subject:START_ID predicate:TYPE object:END_ID primary_knowledge_source:string knowledge_level:string agent_type:string original_subject:string original_object:string snpeff_effect:string distance_to_feature:int ligand:string protein:string affinity_parameter:string supporting_affinities:float[] publications:string[] affinity:float object_aspect_qualifier:string object_direction_qualifier:string qualified_predicate:string hetio_source:string[] tmkp_confidence_score:float sentences:string tmkp_ids:string[] detection_method:string expressed_in:string[] p_value:float[] slope:float[] species_context_qualifier:string pubchem_assay_ids:string[] patent_ids:string[] aggregator_knowledge_source:string[] id:string category:string[] provided_by:string has_evidence:string[] FAERS_llr:float disease_context_qualifier:string score:float description:string[] taxon:string has_count:string has_percentage:string has_quotient:string has_total:string frequency_qualifier:string stage_qualifier:string ASSERTION:string APPLIED_EVIDENCE_CODES_MET:string APPLIED_EVIDENCE_CODES_NOT_MET:string SUMMARY:string EXPERT_PANEL:string EVIDENCE_REPO_LINK:string APPROVAL_DATA:string PUBLISHED_DATE:string MODE_OF_INHERITANCE:string HPO_FOR_MODE_OF_INHERITANCE:string[] DIRECTION:string anatomical_context_qualifier:string phosphorylation_sites:string[] onset_qualifier:string CLINGEN_VALIDITY_CLASSIFICATION:string CLINGEN_CLASSIFICATION_DATE:string CLINGEN_CLASSIFICATION_REPORT:string CLINGEN_MODE_OF_INHERITANCE:string NORMALIZED_MODE_OF_INHERITANCE:string HPO_FOR_NORMALIZED_MODE_OF_INHERITANCE:string object_specialization_qualifier:string drugmechdb_path_id:string[] GUIDELINE:string TRIPLOSENSITIVITY_DESCRIPTION:string TRIPLOSENSITIVITY_SCORE:string negated:boolean HAPLOINSUFFICIENCY_DESCRIPTION:string HAPLOINSUFFICIENCY_SCORE:string complex_context:string[] primaryTarget:boolean endogenous:boolean sex_qualifier:string population_context_qualifier:string causal_mechanism_qualifier:string subject_context_qualifier:string object_form_or_variant_qualifier:string subject_specialization_qualifier:string object_part_qualifier:string subject_part_qualifier:string NCBIGene:84061 biolink:gene_associated_with_condition MONDO:0026729 infores:ubergraph knowledge_assertion manual_agent HGNC:28880 MONDO:0026729 NCBIGene:203859 biolink:gene_associated_with_condition MONDO:0008151 infores:clingen HGNC:27337 MONDO:0008151 Definitive 2025-02-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef25799d-71a4-414c-8826-6d90c5b24d4b-2025-02-03T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5621 biolink:gene_associated_with_condition MONDO:0011299 infores:ubergraph knowledge_assertion manual_agent HGNC:9449 MONDO:0011299 NCBIGene:6137 biolink:gene_associated_with_condition MONDO:0032885 infores:ubergraph knowledge_assertion manual_agent HGNC:10303 MONDO:0032885 NCBIGene:3054 biolink:gene_associated_with_condition MONDO:0010657 infores:ubergraph knowledge_assertion manual_agent HGNC:4839 MONDO:0010657 NCBIGene:771 biolink:gene_associated_with_condition MONDO:0007747 infores:ubergraph knowledge_assertion manual_agent HGNC:1371 MONDO:0007747 NCBIGene:55806 biolink:gene_associated_with_condition MONDO:0008757 infores:ubergraph knowledge_assertion manual_agent HGNC:5172 MONDO:0008757 NCBIGene:51807 biolink:gene_associated_with_condition MONDO:0013172 infores:clingen HGNC:12410 MONDO:0013172 Disputed 2023-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bd5681e-2a42-4bbb-be5f-dabe6efa5334-2023-12-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:26053 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:14262 MONDO:0000508 Definitive 2020-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_582999f6-b3b4-46de-90a0-8f44e22df469-2020-09-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:25914 biolink:gene_associated_with_condition MONDO:0018764 infores:clingen HGNC:18654 MONDO:0018764 Definitive 2024-10-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebfb3367-c465-4e77-9256-ab34683c8ba7-2024-10-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8879 biolink:gene_associated_with_condition MONDO:0033203 infores:clingen HGNC:10817 MONDO:0033203 Definitive 2024-09-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9aea8b-0361-46c5-af9d-e45eba0723d7-2024-09-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8701 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8701 MONDO:0700096 No evidence available 0 true NCBIGene:118429 biolink:gene_associated_with_condition MONDO:0009229 infores:clingen NCBIGene:118429 MONDO:0009229 Definitive 2022-11-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0368b332-6765-451e-867b-71dd93e05ae4-2022-11-22T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9785 biolink:gene_associated_with_condition MONDO:0032604 infores:ubergraph knowledge_assertion manual_agent HGNC:17211 MONDO:0032604 NCBIGene:9361 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:9479 MONDO:0009723 Limited 2021-04-09T14:02:15.539Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da0a308-3a7e-4101-b40b-1f23db106aea-2021-04-09T140215.539Z AR Autosomal Recessive 0000007 NCBIGene:5831 biolink:gene_associated_with_condition MONDO:0013051 infores:ubergraph knowledge_assertion manual_agent HGNC:9721 MONDO:0013051 NCBIGene:5718 biolink:gene_associated_with_condition MONDO:0054591 infores:clingen HGNC:9557 MONDO:0054591 Definitive 2024-03-05T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ca4eea6-b6b2-41dd-8420-84f886e6d849-2024-03-05T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:8111 biolink:gene_associated_with_condition MONDO:0014971 infores:ubergraph knowledge_assertion manual_agent HGNC:4519 MONDO:0014971 NCBIGene:83879 biolink:gene_associated_with_condition MONDO:0014828 infores:clingen HGNC:14628 MONDO:0014828 Limited 2023-04-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_357faf0e-a1db-4240-8268-bc9925a2c0ef-2023-04-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10000 biolink:gene_associated_with_condition MONDO:0800485 infores:ubergraph knowledge_assertion manual_agent HGNC:393 MONDO:0800485 NCBIGene:60681 biolink:gene_associated_with_condition MONDO:0012592 infores:ubergraph knowledge_assertion manual_agent HGNC:18169 MONDO:0012592 NCBIGene:10730 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:12843 MONDO:0044970 Limited 2024-07-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b403159f-e5ae-446c-bb17-222dc8eebded-2024-07-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:776 biolink:gene_associated_with_condition MONDO:0013960 infores:clingen HGNC:1391 MONDO:0013960 Moderate 2024-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8249f2c1-ff59-4ea2-8e7e-11256c73433e-2024-04-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57728 biolink:gene_associated_with_condition MONDO:0014579 infores:ubergraph knowledge_assertion manual_agent HGNC:18340 MONDO:0014579 NCBIGene:3329 biolink:gene_associated_with_condition MONDO:0011532 infores:ubergraph knowledge_assertion manual_agent HGNC:5261 MONDO:0011532 NCBIGene:11253 biolink:gene_associated_with_condition MONDO:0018349 infores:clingen HGNC:6823 MONDO:0018349 Definitive 2020-08-04T11:47:02.993Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0f50bc5-f7ac-4e0a-9762-d6cad9cc4585-2020-08-04T114702.993Z AR Autosomal Recessive 0000007 NCBIGene:2664 biolink:gene_associated_with_condition MONDO:0010451 infores:ubergraph knowledge_assertion manual_agent HGNC:4226 MONDO:0010451 NCBIGene:7080 biolink:gene_associated_with_condition MONDO:0100520 infores:ubergraph knowledge_assertion manual_agent HGNC:11825 MONDO:0100520 NCBIGene:2916 biolink:gene_associated_with_condition MONDO:0009758 infores:clingen NCBIGene:2916 MONDO:0009758 Gene associated with autosomal recessive phenotype 30 NCBIGene:54931 biolink:gene_associated_with_condition MONDO:0014856 infores:ubergraph knowledge_assertion manual_agent HGNC:26022 MONDO:0014856 NCBIGene:2312 biolink:gene_associated_with_condition MONDO:0007810 infores:ubergraph knowledge_assertion manual_agent HGNC:3748 MONDO:0007810 NCBIGene:196527 biolink:gene_associated_with_condition MONDO:0009885 infores:ubergraph knowledge_assertion manual_agent HGNC:25240 MONDO:0009885 NCBIGene:3703 biolink:gene_associated_with_condition MONDO:0859223 infores:clingen HGNC:6172 MONDO:0859223 Definitive 2025-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1b6f608-2884-4d76-96d4-35a5e9848a40-2025-06-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3945 biolink:gene_associated_with_condition MONDO:0013587 infores:ubergraph knowledge_assertion manual_agent HGNC:6541 MONDO:0013587 NCBIGene:102 biolink:gene_associated_with_condition MONDO:0014265 infores:ubergraph knowledge_assertion manual_agent HGNC:188 MONDO:0014265 NCBIGene:3423 biolink:gene_associated_with_condition MONDO:0010674 infores:ubergraph knowledge_assertion manual_agent HGNC:5389 MONDO:0010674 NCBIGene:818 biolink:gene_associated_with_condition MONDO:0032795 infores:ubergraph knowledge_assertion manual_agent HGNC:1463 MONDO:0032795 NCBIGene:3483 biolink:gene_associated_with_condition MONDO:0014420 infores:ubergraph knowledge_assertion manual_agent HGNC:5468 MONDO:0014420 NCBIGene:4437 biolink:gene_associated_with_condition MONDO:0044300 infores:clingen NCBIGene:4437 MONDO:0044300 Definitive 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec777aa-af6a-4cc6-ace1-b22e4b493457-2024-08-29T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:165918 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:165918 MONDO:0700096 No evidence available 0 true NCBIGene:84888 biolink:gene_associated_with_condition MONDO:0030448 infores:ubergraph knowledge_assertion manual_agent HGNC:30227 MONDO:0030448 NCBIGene:4703 biolink:gene_associated_with_condition MONDO:0009725 infores:ubergraph knowledge_assertion manual_agent HGNC:7720 MONDO:0009725 NCBIGene:1593 biolink:gene_associated_with_condition MONDO:0008948 infores:clingen NCBIGene:1593 MONDO:0008948 Definitive 2024-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84f4b8c1-a978-49ab-a21c-578e5d4fcdec-2024-09-23T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4695 biolink:gene_associated_with_condition MONDO:0032618 infores:ubergraph knowledge_assertion manual_agent HGNC:7685 MONDO:0032618 NCBIGene:8913 biolink:gene_associated_with_condition MONDO:0014776 infores:ubergraph knowledge_assertion manual_agent HGNC:1394 MONDO:0014776 NCBIGene:7386 biolink:gene_associated_with_condition MONDO:0032909 infores:ubergraph knowledge_assertion manual_agent HGNC:12587 MONDO:0032909 NCBIGene:79798 biolink:gene_associated_with_condition MONDO:0014416 infores:ubergraph knowledge_assertion manual_agent HGNC:25781 MONDO:0014416 NCBIGene:137492 biolink:gene_associated_with_condition MONDO:0013962 infores:ubergraph knowledge_assertion manual_agent HGNC:24928 MONDO:0013962 NCBIGene:7401 biolink:gene_associated_with_condition MONDO:0010170 infores:ubergraph knowledge_assertion manual_agent HGNC:12605 MONDO:0010170 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0957875 infores:ubergraph knowledge_assertion manual_agent HGNC:11273 MONDO:0957875 NCBIGene:4791 biolink:gene_associated_with_condition MONDO:0014260 infores:ubergraph knowledge_assertion manual_agent HGNC:7795 MONDO:0014260 NCBIGene:4649 biolink:gene_associated_with_condition MONDO:0032597 infores:ubergraph knowledge_assertion manual_agent HGNC:7608 MONDO:0032597 NCBIGene:3670 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6132 MONDO:0005453 Definitive 2024-08-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad4a2c95-f9fb-45a3-84e4-2e1d0d71c779-2024-08-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55703 biolink:gene_associated_with_condition MONDO:0700277 infores:clingen HGNC:30348 MONDO:0700277 Definitive 2025-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37ac0331-b1f2-42d7-96fa-e70d6a701152-2025-09-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:162514 biolink:gene_associated_with_condition MONDO:0100296 infores:ubergraph knowledge_assertion manual_agent HGNC:18084 MONDO:0100296 NCBIGene:147372 biolink:gene_associated_with_condition MONDO:0009337 infores:clingen NCBIGene:147372 MONDO:0009337 Gene associated with autosomal recessive phenotype 30 NCBIGene:27010 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:17358 MONDO:0009723 Moderate 2021-01-14T21:28:00.773Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74e89426-cb27-4474-b892-dc303a9de644-2021-01-14T212800.773Z AR Autosomal Recessive 0000007 NCBIGene:3037 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4819 MONDO:0005453 Limited 2023-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_613d44ec-b161-43e6-9571-eecf427dc8de-2023-11-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10262 biolink:gene_associated_with_condition MONDO:0800483 infores:clingen HGNC:10771 MONDO:0800483 Definitive 2023-05-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1dd38d7-8eac-460d-bcc1-c884cd503455-2023-05-18T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:23761 biolink:gene_associated_with_condition MONDO:0030045 infores:ubergraph knowledge_assertion manual_agent HGNC:8999 MONDO:0030045 NCBIGene:440435 biolink:gene_associated_with_condition MONDO:0800396 infores:ubergraph knowledge_assertion manual_agent HGNC:31371 MONDO:0800396 NCBIGene:107 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:232 MONDO:0019497 Limited 2024-10-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc7be09-eeed-4bd3-8a00-ab4e89af3bae-2024-10-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1376 biolink:gene_associated_with_condition MONDO:0015515 infores:clingen HGNC:2330 MONDO:0015515 Definitive 2018-03-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a57ea10-6ca0-4311-94f1-0ad036a38ca6-2018-03-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:199221 biolink:gene_associated_with_condition MONDO:0033281 infores:ubergraph knowledge_assertion manual_agent HGNC:26551 MONDO:0033281 NCBIGene:338 biolink:gene_associated_with_condition MONDO:0007751 infores:clingen HGNC:603 MONDO:0007751 Definitive 2018-11-14T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c26b83b-409e-47c7-9c53-6ca79472d6fc-2018-11-14T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:401024 biolink:gene_associated_with_condition MONDO:0029148 infores:ubergraph knowledge_assertion manual_agent HGNC:21675 MONDO:0029148 NCBIGene:10846 biolink:gene_associated_with_condition MONDO:0044637 infores:ubergraph knowledge_assertion manual_agent HGNC:8772 MONDO:0044637 NCBIGene:3910 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:6484 MONDO:0005021 Limited 2024-11-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e937f98e-7577-48bd-a24a-361634ba0a8d-2024-11-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:200734 biolink:gene_associated_with_condition MONDO:0030679 infores:ubergraph knowledge_assertion manual_agent HGNC:17722 MONDO:0030679 NCBIGene:2593 biolink:gene_associated_with_condition MONDO:0012999 infores:clingen NCBIGene:2593 MONDO:0012999 Definitive 2019-01-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0a84d45-57f8-4763-b1c5-7a283cef5f71-2019-01-25T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:137196 biolink:gene_associated_with_condition MONDO:0013096 infores:ubergraph knowledge_assertion manual_agent HGNC:28416 MONDO:0013096 NCBIGene:3034 biolink:gene_associated_with_condition MONDO:0009345 infores:clingen HGNC:4806 MONDO:0009345 Limited 2023-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5764eb8-2aad-419e-be57-99f8c6859ebb-2023-11-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3188 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:5042 MONDO:0100148 Definitive 2024-06-13T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e303e734-0f37-4906-bc96-ca8e7f2d21b5-2024-06-13T100000.000Z XL X-linked 0001417 NCBIGene:6949 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6949 MONDO:0700096 No evidence available 0 true NCBIGene:3376 biolink:gene_associated_with_condition MONDO:0014911 infores:ubergraph knowledge_assertion manual_agent HGNC:5330 MONDO:0014911 NCBIGene:23184 biolink:gene_associated_with_condition MONDO:0032846 infores:ubergraph knowledge_assertion manual_agent HGNC:13520 MONDO:0032846 NCBIGene:10216 biolink:gene_associated_with_condition MONDO:0008828 infores:clingen NCBIGene:10216 MONDO:0008828 Definitive 2021-07-30T13:07:37.801Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b4be938-664c-421e-922b-dc6ac83e5dec-2021-07-30T130737.801Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:55835 biolink:gene_associated_with_condition MONDO:0700054 infores:clingen HGNC:17272 MONDO:0700054 Definitive 2022-05-21T10:44:14.354Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c10510c1-2c0e-466e-928a-77d896159d06-2022-05-21T104414.354Z AR Autosomal Recessive 0000007 NCBIGene:7036 biolink:gene_associated_with_condition MONDO:0011417 infores:clingen NCBIGene:7036 MONDO:0011417 Definitive 2025-08-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f0c700b-3f93-465d-8a23-7c4cf6d4afde-2025-08-22T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4081 biolink:gene_associated_with_condition MONDO:0032774 infores:clingen HGNC:6757 MONDO:0032774 Strong 2024-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fae9544-f1fa-4155-8ff4-7719efb37d1a-2024-04-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5015 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5015 MONDO:0700096 No evidence available 0 true NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0007844 infores:clingen NCBIGene:2260 MONDO:0007844 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3166 biolink:gene_associated_with_condition MONDO:0012802 infores:clingen HGNC:5017 MONDO:0012802 Definitive 2021-05-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf66ec9-77a4-4e48-83a4-970639ad5373-2021-05-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8822 biolink:gene_associated_with_condition MONDO:0014106 infores:ubergraph knowledge_assertion manual_agent HGNC:3673 MONDO:0014106 NCBIGene:6533 biolink:gene_associated_with_condition MONDO:0007777 infores:ubergraph knowledge_assertion manual_agent HGNC:11052 MONDO:0007777 NCBIGene:81622 biolink:gene_associated_with_condition MONDO:0024563 infores:ubergraph knowledge_assertion manual_agent HGNC:13481 MONDO:0024563 NCBIGene:5580 biolink:gene_associated_with_condition MONDO:8000024 infores:ubergraph knowledge_assertion manual_agent HGNC:9399 MONDO:8000024 NCBIGene:90167 biolink:gene_associated_with_condition MONDO:0010693 infores:ubergraph knowledge_assertion manual_agent HGNC:8079 MONDO:0010693 NCBIGene:89795 biolink:gene_associated_with_condition MONDO:0976285 infores:ubergraph knowledge_assertion manual_agent HGNC:15998 MONDO:0976285 NCBIGene:79840 biolink:gene_associated_with_condition MONDO:0975809 infores:ubergraph knowledge_assertion manual_agent HGNC:25737 MONDO:0975809 NCBIGene:6005 biolink:gene_associated_with_condition MONDO:0008493 infores:ubergraph knowledge_assertion manual_agent HGNC:10006 MONDO:0008493 NCBIGene:204219 biolink:gene_associated_with_condition MONDO:0014010 infores:ubergraph knowledge_assertion manual_agent HGNC:23752 MONDO:0014010 NCBIGene:79753 biolink:gene_associated_with_condition MONDO:0013787 infores:ubergraph knowledge_assertion manual_agent HGNC:30587 MONDO:0013787 NCBIGene:8929 biolink:gene_associated_with_condition MONDO:0800026 infores:clingen HGNC:9143 MONDO:0800026 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ed68efa-cafc-4e28-ab56-ab9b65666c15-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:1824 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1824 MONDO:0700096 No evidence available 0 true NCBIGene:3035 biolink:gene_associated_with_condition MONDO:0014711 infores:ubergraph knowledge_assertion manual_agent HGNC:4816 MONDO:0014711 NCBIGene:23435 biolink:gene_associated_with_condition MONDO:0012790 infores:ubergraph knowledge_assertion manual_agent HGNC:11571 MONDO:0012790 NCBIGene:100996717 biolink:gene_associated_with_condition MONDO:0030027 infores:ubergraph knowledge_assertion manual_agent HGNC:53924 MONDO:0030027 NCBIGene:57010 biolink:gene_associated_with_condition MONDO:0012490 infores:ubergraph knowledge_assertion manual_agent HGNC:1386 MONDO:0012490 NCBIGene:79644 biolink:gene_associated_with_condition MONDO:0012991 infores:ubergraph knowledge_assertion manual_agent HGNC:25812 MONDO:0012991 NCBIGene:11322 biolink:gene_associated_with_condition MONDO:0100045 infores:ubergraph knowledge_assertion manual_agent HGNC:18021 MONDO:0100045 NCBIGene:153129 biolink:gene_associated_with_condition MONDO:0002561 infores:clingen HGNC:26907 MONDO:0002561 No Known Disease Relationship 2022-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34c72694-90be-4ba1-a876-4f77562e7e72-2022-08-02T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:2891 biolink:gene_associated_with_condition MONDO:0030060 infores:ubergraph knowledge_assertion manual_agent HGNC:4572 MONDO:0030060 NCBIGene:10352 biolink:gene_associated_with_condition MONDO:0060578 infores:ubergraph knowledge_assertion manual_agent HGNC:12730 MONDO:0060578 NCBIGene:43849 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:43849 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:54345 biolink:gene_associated_with_condition MONDO:0019073 infores:ubergraph knowledge_assertion manual_agent HGNC:11194 MONDO:0019073 NCBIGene:7072 biolink:gene_associated_with_condition MONDO:0011466 infores:ubergraph knowledge_assertion manual_agent HGNC:11802 MONDO:0011466 NCBIGene:3235 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3235 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:54892 biolink:gene_associated_with_condition MONDO:0032764 infores:ubergraph knowledge_assertion manual_agent HGNC:21904 MONDO:0032764 NCBIGene:51099 biolink:gene_associated_with_condition MONDO:0010155 infores:clingen HGNC:21396 MONDO:0010155 Definitive 2022-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19bf65b3-0c75-46e2-8796-5664ce6dd371-2022-08-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3643 biolink:gene_associated_with_condition MONDO:0012381 infores:ubergraph knowledge_assertion manual_agent HGNC:6091 MONDO:0012381 NCBIGene:9731 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:24866 MONDO:0005308 Definitive 2025-01-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be550486-4da7-4de4-9db4-6f5cdb98ff39-2025-01-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79718 biolink:gene_associated_with_condition MONDO:0011213 infores:ubergraph knowledge_assertion manual_agent HGNC:29529 MONDO:0011213 NCBIGene:65266 biolink:gene_associated_with_condition MONDO:0013777 infores:ubergraph knowledge_assertion manual_agent HGNC:14544 MONDO:0013777 NCBIGene:54862 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:30237 MONDO:0100038 Definitive 2020-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63def86b-765e-4f12-93a3-94ef911c3190-2020-01-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3070 biolink:gene_associated_with_condition MONDO:0014829 infores:clingen HGNC:4861 MONDO:0014829 Moderate 2025-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9414c2ab-4eab-4ee0-9a68-ba78a5774f0a-2025-06-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:490 biolink:gene_associated_with_condition MONDO:0030891 infores:ubergraph knowledge_assertion manual_agent HGNC:814 MONDO:0030891 NCBIGene:8322 biolink:gene_associated_with_condition MONDO:0007589 infores:clingen NCBIGene:8322 MONDO:0007589 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3075 biolink:gene_associated_with_condition MONDO:0016244 infores:clingen HGNC:4883 MONDO:0016244 Definitive 2023-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0a234f8-1d8e-4a26-a76f-40219591c75c-2023-07-02T160000.000Z SD Semidominant 0032113 NCBIGene:57798 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:29941 MONDO:0005021 Limited 2024-08-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56933afb-863f-46f5-884d-17522adb31a8-2024-08-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:14674 MONDO:0019497 Limited 2018-06-19T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48910592-40d6-4eb7-a53c-4b0883070287-2018-06-19T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:340061 biolink:gene_associated_with_condition MONDO:0014405 infores:ubergraph knowledge_assertion manual_agent HGNC:27962 MONDO:0014405 NCBIGene:80217 biolink:gene_associated_with_condition MONDO:0009366 infores:clingen HGNC:26684 MONDO:0009366 Limited 2022-12-13T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff67c788-1b69-4da8-84df-f37741c9913f-2022-12-13T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:154881 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen NCBIGene:154881 MONDO:0020074 Definitive 2022-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6068b08-413e-4105-b8dc-97426d64c6c4-2022-09-07T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51284 biolink:gene_associated_with_condition MONDO:0859083 infores:clingen HGNC:15631 MONDO:0859083 Moderate 2024-10-11T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ad2864d-9d38-46ad-9bb0-5020b87cbe55-2024-10-11T190000.000Z XL X-linked 0001417 NCBIGene:686 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:1122 MONDO:0009723 Moderate 2021-06-14T14:03:27.018Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74599afe-02f9-4225-9e50-63306f04a552-2021-06-14T140327.018Z AR Autosomal Recessive 0000007 NCBIGene:3198 biolink:gene_associated_with_condition MONDO:0011099 infores:ubergraph knowledge_assertion manual_agent HGNC:5099 MONDO:0011099 NCBIGene:9533 biolink:gene_associated_with_condition MONDO:0700278 infores:ubergraph knowledge_assertion manual_agent HGNC:20194 MONDO:0700278 NCBIGene:970 biolink:gene_associated_with_condition MONDO:0034054 infores:clingen HGNC:11937 MONDO:0034054 Definitive 2025-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69aa819c-1f25-42fe-8469-4641fc088a57-2025-02-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3861 biolink:gene_associated_with_condition MONDO:0010976 infores:ubergraph knowledge_assertion manual_agent HGNC:6416 MONDO:0010976 NCBIGene:55180 biolink:gene_associated_with_condition MONDO:0013702 infores:ubergraph knowledge_assertion manual_agent HGNC:30922 MONDO:0013702 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0030268 infores:ubergraph knowledge_assertion manual_agent HGNC:10585 MONDO:0030268 NCBIGene:6299 biolink:gene_associated_with_condition MONDO:0054581 infores:ubergraph knowledge_assertion manual_agent HGNC:10524 MONDO:0054581 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0957813 infores:ubergraph knowledge_assertion manual_agent HGNC:11273 MONDO:0957813 NCBIGene:55163 biolink:gene_associated_with_condition MONDO:0012407 infores:ubergraph knowledge_assertion manual_agent HGNC:30260 MONDO:0012407 NCBIGene:3778 biolink:gene_associated_with_condition MONDO:0060551 infores:ubergraph knowledge_assertion manual_agent HGNC:6284 MONDO:0060551 NCBIGene:22808 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:7227 MONDO:0018997 Moderate 2022-12-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04ca29c1-6b44-474c-b54b-1c8be52de172-2022-12-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:65062 biolink:gene_associated_with_condition MONDO:0013745 infores:clingen NCBIGene:65062 MONDO:0013745 Definitive 2021-04-26T12:10:51.373Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6b843c9-8fc3-4d61-8195-29aed5e7d700-2021-04-26T121051.373Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6927 biolink:gene_associated_with_condition MONDO:0012919 infores:ubergraph knowledge_assertion manual_agent HGNC:11621 MONDO:0012919 NCBIGene:10982 biolink:gene_associated_with_condition MONDO:0014755 infores:ubergraph knowledge_assertion manual_agent HGNC:6891 MONDO:0014755 NCBIGene:4728 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:4728 MONDO:0009723 Moderate 2019-11-25T15:24:06.734Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01a27520-f92a-4b81-b63b-c15132c873be-2019-11-25T152406.734Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 HGNC:5541 biolink:gene_associated_with_condition MONDO:0020729 infores:clingen HGNC:5541 MONDO:0020729 Definitive 2021-06-15T12:06:59.636Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51719b80-54fb-4a55-a63c-7d7a943da1e3-2021-06-15T120659.636Z AR Autosomal Recessive 0000007 NCBIGene:6999 biolink:gene_associated_with_condition MONDO:0010907 infores:ubergraph knowledge_assertion manual_agent HGNC:11708 MONDO:0010907 NCBIGene:3845 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:6407 MONDO:0009026 Disputed 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc9a82d0-8447-454c-8d54-def792d20e1d-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0044327 infores:ubergraph knowledge_assertion manual_agent HGNC:6697 MONDO:0044327 NCBIGene:1050 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1050 MONDO:0700096 No evidence available 0 true NCBIGene:1280 biolink:gene_associated_with_condition MONDO:1030002 infores:clingen HGNC:2200 MONDO:1030002 Definitive 2024-08-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dd39f77-cafb-405c-871e-ce34eb55b5e0-2024-08-06T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5290 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:22 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:48 MONDO:0044970 Moderate 2023-09-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff096d-abfb-47df-8ac1-c942a98828b0-2023-09-28T160000.000Z XL X-linked 0001417 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0012013 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0012013 NCBIGene:5551 biolink:gene_associated_with_condition MONDO:0011337 infores:clingen HGNC:9360 MONDO:0011337 Definitive 2023-08-15T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6705dc54-6e7e-4d7f-8377-4e87bb093819-2023-08-15T110000.000Z AR Autosomal Recessive 0000007 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0011581 infores:ubergraph knowledge_assertion manual_agent HGNC:3052 MONDO:0011581 NCBIGene:5269 biolink:gene_associated_with_condition MONDO:0013269 infores:clingen NCBIGene:5269 MONDO:0013269 Gene associated with autosomal recessive phenotype 30 NCBIGene:10084 biolink:gene_associated_with_condition MONDO:0010653 infores:clingen NCBIGene:10084 MONDO:0010653 Definitive 2018-11-07T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8128f36b-f273-49ee-bfd8-bee64b4df921-2018-11-07T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3313 biolink:gene_associated_with_condition MONDO:0014801 infores:ubergraph knowledge_assertion manual_agent HGNC:5244 MONDO:0014801 NCBIGene:253017 biolink:gene_associated_with_condition MONDO:0013529 infores:ubergraph knowledge_assertion manual_agent HGNC:27365 MONDO:0013529 NCBIGene:1411 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1411 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4634 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:7584 MONDO:0016587 Limited 2019-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1d5e9bf-ca57-445a-a432-27fe221484bf-2019-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2677 biolink:gene_associated_with_condition MONDO:0012570 infores:ubergraph knowledge_assertion manual_agent HGNC:4247 MONDO:0012570 NCBIGene:7355 biolink:gene_associated_with_condition MONDO:0010478 infores:clingen NCBIGene:7355 MONDO:0010478 Sufficient evidence for dosage pathogenicity 3 NCBIGene:139411 biolink:gene_associated_with_condition MONDO:0010440 infores:clingen NCBIGene:139411 MONDO:0010440 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1291 biolink:gene_associated_with_condition MONDO:0024530 infores:ubergraph knowledge_assertion manual_agent HGNC:2211 MONDO:0024530 NCBIGene:6548 biolink:gene_associated_with_condition MONDO:0014572 infores:ubergraph knowledge_assertion manual_agent HGNC:11071 MONDO:0014572 NCBIGene:50939 biolink:gene_associated_with_condition MONDO:0700242 infores:ubergraph knowledge_assertion manual_agent HGNC:18362 MONDO:0700242 NCBIGene:164045 biolink:gene_associated_with_condition MONDO:0014322 infores:clingen NCBIGene:164045 MONDO:0014322 Gene associated with autosomal recessive phenotype 30 NCBIGene:23592 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23592 MONDO:0700096 No evidence available 0 true NCBIGene:63895 biolink:gene_associated_with_condition MONDO:0014941 infores:ubergraph knowledge_assertion manual_agent HGNC:26270 MONDO:0014941 NCBIGene:56172 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:56172 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51168 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7594 MONDO:0019497 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf0898e-5e63-4327-9341-fdf26490beee-2017-11-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79577 biolink:gene_associated_with_condition MONDO:0012004 infores:ubergraph knowledge_assertion manual_agent HGNC:16783 MONDO:0012004 NCBIGene:122481 biolink:gene_associated_with_condition MONDO:0054731 infores:clingen HGNC:20091 MONDO:0054731 Limited 2023-03-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54a1d538-0afb-47b9-a7b2-e1f8b0afbcc8-2023-03-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23334 biolink:gene_associated_with_condition MONDO:0014201 infores:ubergraph knowledge_assertion manual_agent HGNC:29040 MONDO:0014201 NCBIGene:190 biolink:gene_associated_with_condition MONDO:0010226 infores:ubergraph knowledge_assertion manual_agent HGNC:7960 MONDO:0010226 NCBIGene:85440 biolink:gene_associated_with_condition MONDO:0014371 infores:clingen NCBIGene:85440 MONDO:0014371 Gene associated with autosomal recessive phenotype 30 NCBIGene:5096 biolink:gene_associated_with_condition MONDO:0011628 infores:clingen HGNC:8654 MONDO:0011628 Definitive 2018-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cd49a9b-08c2-49db-8e97-e334f171e34d-2018-12-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:207 biolink:gene_associated_with_condition MONDO:0008318 infores:ubergraph knowledge_assertion manual_agent HGNC:391 MONDO:0008318 NCBIGene:10021 biolink:gene_associated_with_condition MONDO:0008102 infores:clingen HGNC:16882 MONDO:0008102 Definitive 2025-06-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c7f333b-2a94-42e9-a50e-b19240c3ccaf-2025-06-24T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:23040 biolink:gene_associated_with_condition MONDO:0014678 infores:ubergraph knowledge_assertion manual_agent HGNC:7623 MONDO:0014678 NCBIGene:10133 biolink:gene_associated_with_condition MONDO:0011693 infores:clingen HGNC:17142 MONDO:0011693 Definitive 2022-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22efb828-c989-4584-97f9-e1d795b7468f-2022-11-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5189 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen NCBIGene:5189 MONDO:0019234 Definitive 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a345ba65-9dcd-43dd-a1c2-1778c1a921ea-2023-09-06T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4540 biolink:gene_associated_with_condition MONDO:0800039 infores:ubergraph knowledge_assertion manual_agent HGNC:7461 MONDO:0800039 NCBIGene:374291 biolink:gene_associated_with_condition MONDO:0032608 infores:ubergraph knowledge_assertion manual_agent HGNC:7714 MONDO:0032608 NCBIGene:54101 biolink:gene_associated_with_condition MONDO:0009901 infores:ubergraph knowledge_assertion manual_agent HGNC:496 MONDO:0009901 NCBIGene:1285 biolink:gene_associated_with_condition MONDO:0007086 infores:ubergraph knowledge_assertion manual_agent HGNC:2204 MONDO:0007086 NCBIGene:11212 biolink:gene_associated_with_condition MONDO:0015005 infores:ubergraph knowledge_assertion manual_agent HGNC:9457 MONDO:0015005 NCBIGene:220136 biolink:gene_associated_with_condition MONDO:0013887 infores:clingen NCBIGene:220136 MONDO:0013887 Gene associated with autosomal recessive phenotype 30 NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:6840 MONDO:0018997 Limited 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1eafd4b1-29b1-4a17-a7ac-2c555f2e2648-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4915 biolink:gene_associated_with_condition MONDO:0033367 infores:ubergraph knowledge_assertion manual_agent HGNC:8032 MONDO:0033367 NCBIGene:4689 biolink:gene_associated_with_condition MONDO:0013507 infores:clingen NCBIGene:4689 MONDO:0013507 Gene associated with autosomal recessive phenotype 30 NCBIGene:9939 biolink:gene_associated_with_condition MONDO:0010121 infores:ubergraph knowledge_assertion manual_agent HGNC:9905 MONDO:0010121 NCBIGene:1788 biolink:gene_associated_with_condition MONDO:0032882 infores:clingen HGNC:2978 MONDO:0032882 Limited 2023-06-07T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c4959e0-72fe-49e2-8e7e-639539dc9095-2023-06-07T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:81704 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:81704 MONDO:0700096 No evidence available 0 true NCBIGene:57094 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:17245 MONDO:0005027 Refuted 2021-07-29T13:25:27.108Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cb32379-82a8-425d-ac80-3d740e1cc10b-2021-07-29T132527.108Z AD Autosomal Dominant 0000006 NCBIGene:23362 biolink:gene_associated_with_condition MONDO:0008339 infores:clingen HGNC:19093 MONDO:0008339 Limited 2016-11-24T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4845 AD Autosomal Dominant 0000006 NCBIGene:1717 biolink:gene_associated_with_condition MONDO:0010035 infores:clingen NCBIGene:1717 MONDO:0010035 Definitive 2023-08-15T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5ed71c9-a76b-44c0-b5c0-44d604f2e0e9-2023-08-15T060000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0008104 infores:ubergraph knowledge_assertion manual_agent HGNC:9644 MONDO:0008104 NCBIGene:5921 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:9871 MONDO:0018997 Disputed 2018-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a957c2df-eeec-4bdf-b423-6f1667f66abd-2018-06-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2737 biolink:gene_associated_with_condition MONDO:0008287 infores:ubergraph knowledge_assertion manual_agent HGNC:4319 MONDO:0008287 NCBIGene:51601 biolink:gene_associated_with_condition MONDO:0014576 infores:ubergraph knowledge_assertion manual_agent HGNC:29569 MONDO:0014576 NCBIGene:284217 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:284217 MONDO:0700096 No evidence available 0 true NCBIGene:2160 biolink:gene_associated_with_condition MONDO:0012897 infores:ubergraph knowledge_assertion manual_agent HGNC:3529 MONDO:0012897 NCBIGene:10801 biolink:gene_associated_with_condition MONDO:0017362 infores:clingen HGNC:7323 MONDO:0017362 Moderate 2023-08-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d2bb3b1-6fd0-4ee9-8273-322c33597eff-2023-08-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:147007 biolink:gene_associated_with_condition MONDO:0014790 infores:ubergraph knowledge_assertion manual_agent HGNC:18085 MONDO:0014790 NCBIGene:79867 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79867 MONDO:0700096 No evidence available 0 true NCBIGene:80208 biolink:gene_associated_with_condition MONDO:0011445 infores:clingen HGNC:11226 MONDO:0011445 Definitive 2023-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d32f521e-3d88-4b35-94e6-5fc4124c159c-2023-06-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0009964 infores:ubergraph knowledge_assertion manual_agent HGNC:29077 MONDO:0009964 NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0013752 infores:ubergraph knowledge_assertion manual_agent HGNC:2488 MONDO:0013752 NCBIGene:27247 biolink:gene_associated_with_condition MONDO:0975796 infores:ubergraph knowledge_assertion manual_agent HGNC:16287 MONDO:0975796 NCBIGene:84062 biolink:gene_associated_with_condition MONDO:0013559 infores:clingen HGNC:17328 MONDO:0013559 Definitive 2021-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_785a39b1-9c7b-4745-94b6-be6a9376ac97-2021-02-24T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5921 biolink:gene_associated_with_condition MONDO:0020783 infores:ubergraph knowledge_assertion manual_agent HGNC:9871 MONDO:0020783 NCBIGene:54808 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54808 MONDO:0700096 No evidence available 0 true NCBIGene:3861 biolink:gene_associated_with_condition MONDO:0007551 infores:ubergraph knowledge_assertion manual_agent HGNC:6416 MONDO:0007551 NCBIGene:9414 biolink:gene_associated_with_condition MONDO:0014381 infores:ubergraph knowledge_assertion manual_agent HGNC:11828 MONDO:0014381 NCBIGene:84693 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84693 MONDO:0700096 No evidence available 0 true NCBIGene:4070 biolink:gene_associated_with_condition MONDO:0008777 infores:ubergraph knowledge_assertion manual_agent HGNC:11530 MONDO:0008777 NCBIGene:7516 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:12829 MONDO:0016419 Refuted 2023-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7f253e9-bb78-44c5-bab1-6e8017eeb69c-2023-03-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0017630 infores:ubergraph knowledge_assertion manual_agent HGNC:6470 MONDO:0017630 NCBIGene:3162 biolink:gene_associated_with_condition MONDO:0013536 infores:ubergraph knowledge_assertion manual_agent HGNC:5013 MONDO:0013536 NCBIGene:27063 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:15819 MONDO:0005045 Disputed 2023-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f241e6c-2fc8-4f23-b976-3b79d90fad3e-2023-02-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2896 biolink:gene_associated_with_condition MONDO:0011842 infores:ubergraph knowledge_assertion manual_agent HGNC:4601 MONDO:0011842 NCBIGene:51117 biolink:gene_associated_with_condition MONDO:0958009 infores:ubergraph knowledge_assertion manual_agent HGNC:19693 MONDO:0958009 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0011416 infores:ubergraph knowledge_assertion manual_agent HGNC:10586 MONDO:0011416 NCBIGene:4566 biolink:gene_associated_with_condition MONDO:0800035 infores:ubergraph knowledge_assertion manual_agent HGNC:7489 MONDO:0800035 NCBIGene:64864 biolink:gene_associated_with_condition MONDO:0957228 infores:ubergraph knowledge_assertion manual_agent HGNC:25777 MONDO:0957228 NCBIGene:1534 biolink:gene_associated_with_condition MONDO:0020751 infores:ubergraph knowledge_assertion manual_agent HGNC:2571 MONDO:0020751 NCBIGene:9702 biolink:gene_associated_with_condition MONDO:0013582 infores:clingen HGNC:30794 MONDO:0013582 Definitive 2019-11-22T14:53:03.972Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c44921de-14cf-4907-8bef-1525329ee89c-2019-11-22T145303.972Z AR Autosomal Recessive 0000007 NCBIGene:1019 biolink:gene_associated_with_condition MONDO:0012183 infores:clingen NCBIGene:1019 MONDO:0012183 Definitive 2020-01-13T19:44:34.667Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca76579b-1432-4edc-84e8-b3332dce4ede-2020-01-13T194434.667Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:291 biolink:gene_associated_with_condition MONDO:0014175 infores:ubergraph knowledge_assertion manual_agent HGNC:10990 MONDO:0014175 NCBIGene:715 biolink:gene_associated_with_condition MONDO:0020684 infores:ubergraph knowledge_assertion manual_agent HGNC:1246 MONDO:0020684 NCBIGene:7259 biolink:gene_associated_with_condition MONDO:0012124 infores:ubergraph knowledge_assertion manual_agent HGNC:12382 MONDO:0012124 NCBIGene:8546 biolink:gene_associated_with_condition MONDO:0011997 infores:ubergraph knowledge_assertion manual_agent HGNC:566 MONDO:0011997 NCBIGene:3479 biolink:gene_associated_with_condition MONDO:0012110 infores:ubergraph knowledge_assertion manual_agent HGNC:5464 MONDO:0012110 NCBIGene:699 biolink:gene_associated_with_condition MONDO:0005575 infores:clingen HGNC:1148 MONDO:0005575 Limited 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_018019f0-2a13-42e7-9a03-b7eac3a4c483-2023-12-20T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:4322 biolink:gene_associated_with_condition MONDO:0009597 infores:ubergraph knowledge_assertion manual_agent HGNC:7159 MONDO:0009597 NCBIGene:10681 biolink:gene_associated_with_condition MONDO:0014953 infores:ubergraph knowledge_assertion manual_agent HGNC:4401 MONDO:0014953 NCBIGene:2131 biolink:gene_associated_with_condition MONDO:0008977 infores:ubergraph knowledge_assertion manual_agent HGNC:3512 MONDO:0008977 NCBIGene:261734 biolink:gene_associated_with_condition MONDO:0011756 infores:ubergraph knowledge_assertion manual_agent HGNC:19104 MONDO:0011756 NCBIGene:51185 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen HGNC:30185 MONDO:0001071 Moderate 2021-05-21T13:50:46.004Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_158c9b6b-2ac8-4ee3-bd89-a57d567e675f-2021-05-21T135046.004Z AR Autosomal Recessive 0000007 NCBIGene:1500 biolink:gene_associated_with_condition MONDO:0040503 infores:ubergraph knowledge_assertion manual_agent HGNC:2515 MONDO:0040503 NCBIGene:84100 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:13210 MONDO:0005308 Definitive 2025-07-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9289028a-10d0-4d9a-aa17-13d13d91c732-2025-07-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:30835 biolink:gene_associated_with_condition MONDO:0013713 infores:ubergraph knowledge_assertion manual_agent HGNC:1641 MONDO:0013713 NCBIGene:10262 biolink:gene_associated_with_condition MONDO:0007943 infores:clingen NCBIGene:10262 MONDO:0007943 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8741 biolink:gene_associated_with_condition MONDO:0800149 infores:ubergraph knowledge_assertion manual_agent HGNC:11928 MONDO:0800149 NCBIGene:146713 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:27097 MONDO:0005027 Disputed 2024-11-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_010465d0-daa4-40b7-a5df-ca91113db47e-2024-11-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:112939 biolink:gene_associated_with_condition MONDO:0800475 infores:ubergraph knowledge_assertion manual_agent HGNC:20967 MONDO:0800475 NCBIGene:4010 biolink:gene_associated_with_condition MONDO:0009724 infores:ubergraph knowledge_assertion manual_agent HGNC:6654 MONDO:0009724 NCBIGene:6253 biolink:gene_associated_with_condition MONDO:0971150 infores:ubergraph knowledge_assertion manual_agent HGNC:10468 MONDO:0971150 NCBIGene:5917 biolink:gene_associated_with_condition MONDO:0014506 infores:ubergraph knowledge_assertion manual_agent HGNC:9870 MONDO:0014506 NCBIGene:2775 biolink:gene_associated_with_condition MONDO:0014199 infores:ubergraph knowledge_assertion manual_agent HGNC:4389 MONDO:0014199 NCBIGene:93210 biolink:gene_associated_with_condition MONDO:0014318 infores:clingen NCBIGene:93210 MONDO:0014318 Definitive 2023-09-05T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c63978db-fe31-489a-985c-6b353f0d5243-2023-09-05T100000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:133396 biolink:gene_associated_with_condition MONDO:0013502 infores:ubergraph knowledge_assertion manual_agent HGNC:18969 MONDO:0013502 NCBIGene:9563 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9563 MONDO:0700096 No evidence available 0 true NCBIGene:51256 biolink:gene_associated_with_condition MONDO:0009544 infores:ubergraph knowledge_assertion manual_agent HGNC:21066 MONDO:0009544 NCBIGene:6231 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6231 MONDO:0700096 No evidence available 0 true NCBIGene:23499 biolink:gene_associated_with_condition MONDO:0100472 infores:clingen HGNC:13664 MONDO:0100472 Moderate 2023-07-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67d61f95-4ea3-41a7-ab90-e642c2c65c2a-2023-07-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2475 biolink:gene_associated_with_condition MONDO:0100283 infores:clingen HGNC:3942 MONDO:0100283 Definitive 2021-07-29T21:32:56.506Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92ce0145-031d-41c4-8b74-0f9411629b64-2021-07-29T213256.506Z AD Autosomal Dominant 0000006 NCBIGene:171023 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:171023 MONDO:0700096 No evidence available 0 true NCBIGene:5977 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:9964 MONDO:0015452 Definitive 2023-08-15T02:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc8c072e-7b8d-4a94-97fe-c15c91759f0f-2023-08-15T020000.000Z AD Autosomal Dominant 0000006 NCBIGene:4128 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4128 MONDO:0700096 No evidence available 0 true NCBIGene:4088 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4088 MONDO:0700096 No evidence available 0 true NCBIGene:8659 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8659 MONDO:0700096 No evidence available 0 true NCBIGene:1729 biolink:gene_associated_with_condition MONDO:0014714 infores:ubergraph knowledge_assertion manual_agent HGNC:2876 MONDO:0014714 NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:11949 MONDO:0005045 Moderate 2021-02-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef922dc4-4e41-422b-ac3d-605fea375005-2021-02-04T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:3980 biolink:gene_associated_with_condition MONDO:0030696 infores:ubergraph knowledge_assertion manual_agent HGNC:6600 MONDO:0030696 NCBIGene:81562 biolink:gene_associated_with_condition MONDO:0014815 infores:ubergraph knowledge_assertion manual_agent HGNC:19263 MONDO:0014815 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0017140 infores:clingen HGNC:6470 MONDO:0017140 Definitive 2019-10-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8541f5b-a166-44cd-a7f3-fce263ef8fde-2019-10-02T160000.000Z XL X-linked 0001417 NCBIGene:7102 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:11854 MONDO:0019181 Moderate 2020-12-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2716e7b3-e038-421a-b584-55f6797502a4-2020-12-02T170000.000Z XL X-linked 0001417 NCBIGene:4038 biolink:gene_associated_with_condition MONDO:0014578 infores:ubergraph knowledge_assertion manual_agent HGNC:6696 MONDO:0014578 NCBIGene:55687 biolink:gene_associated_with_condition MONDO:0013111 infores:clingen NCBIGene:55687 MONDO:0013111 Gene associated with autosomal recessive phenotype 30 NCBIGene:2984 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2984 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23345 biolink:gene_associated_with_condition MONDO:0013071 infores:ubergraph knowledge_assertion manual_agent HGNC:17089 MONDO:0013071 NCBIGene:1290 biolink:gene_associated_with_condition MONDO:0019568 infores:ubergraph knowledge_assertion manual_agent HGNC:2210 MONDO:0019568 NCBIGene:10492 biolink:gene_associated_with_condition MONDO:0800456 infores:clingen NCBIGene:10492 MONDO:0800456 Definitive 2025-10-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c69838d-3aa8-4f2e-a2fd-79a6752f665b-2025-10-01T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3199 biolink:gene_associated_with_condition MONDO:0012854 infores:ubergraph knowledge_assertion manual_agent HGNC:5103 MONDO:0012854 NCBIGene:51520 biolink:gene_associated_with_condition MONDO:0024568 infores:ubergraph knowledge_assertion manual_agent HGNC:6512 MONDO:0024568 NCBIGene:3178 biolink:gene_associated_with_condition MONDO:0014179 infores:ubergraph knowledge_assertion manual_agent HGNC:5031 MONDO:0014179 NCBIGene:2165 biolink:gene_associated_with_condition MONDO:0013190 infores:clingen NCBIGene:2165 MONDO:0013190 Definitive 2020-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_403b3588-323c-4103-9207-cc9c8be12281-2020-07-22T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:672 biolink:gene_associated_with_condition MONDO:0054748 infores:ubergraph knowledge_assertion manual_agent HGNC:1100 MONDO:0054748 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0014831 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0014831 NCBIGene:51010 biolink:gene_associated_with_condition MONDO:0013853 infores:clingen NCBIGene:51010 MONDO:0013853 Gene associated with autosomal recessive phenotype 30 NCBIGene:85016 biolink:gene_associated_with_condition MONDO:0054843 infores:clingen HGNC:28188 MONDO:0054843 Definitive 2022-09-08T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bcfa4e4-37a3-43a7-9b4d-60554bc7600c-2022-09-08T110000.000Z AR Autosomal Recessive 0000007 NCBIGene:4091 biolink:gene_associated_with_condition MONDO:0013902 infores:ubergraph knowledge_assertion manual_agent HGNC:6772 MONDO:0013902 NCBIGene:6736 biolink:gene_associated_with_condition MONDO:0020712 infores:clingen NCBIGene:6736 MONDO:0020712 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7424 biolink:gene_associated_with_condition MONDO:0014393 infores:ubergraph knowledge_assertion manual_agent HGNC:12682 MONDO:0014393 NCBIGene:7389 biolink:gene_associated_with_condition MONDO:0100498 infores:clingen NCBIGene:7389 MONDO:0100498 Definitive 2022-08-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992eb049-9b4f-4163-bcb0-c7a0656cb93e-2022-08-12T160000.000Z SD Semidominant 0032113 Some evidence for dosage pathogenicity 2 NCBIGene:2214 biolink:gene_associated_with_condition MONDO:0014313 infores:ubergraph knowledge_assertion manual_agent HGNC:3619 MONDO:0014313 NCBIGene:338429 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:338429 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:881 biolink:gene_associated_with_condition MONDO:0970952 infores:ubergraph knowledge_assertion manual_agent HGNC:1568 MONDO:0970952 NCBIGene:1827 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1827 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6650 biolink:gene_associated_with_condition MONDO:0036189 infores:ubergraph knowledge_assertion manual_agent HGNC:11182 MONDO:0036189 NCBIGene:79645 biolink:gene_associated_with_condition MONDO:0957991 infores:ubergraph knowledge_assertion manual_agent HGNC:25678 MONDO:0957991 NCBIGene:9211 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9211 MONDO:0700096 No evidence available 0 true NCBIGene:22866 biolink:gene_associated_with_condition MONDO:0030909 infores:ubergraph knowledge_assertion manual_agent HGNC:19701 MONDO:0030909 NCBIGene:2719 biolink:gene_associated_with_condition MONDO:0020602 infores:ubergraph knowledge_assertion manual_agent HGNC:4451 MONDO:0020602 NCBIGene:10568 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10568 MONDO:0700096 No evidence available 0 true NCBIGene:6786 biolink:gene_associated_with_condition MONDO:0008051 infores:clingen HGNC:11386 MONDO:0008051 Definitive 2021-04-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:124997 biolink:gene_associated_with_condition MONDO:0012430 infores:ubergraph knowledge_assertion manual_agent HGNC:26600 MONDO:0012430 NCBIGene:6928 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6928 MONDO:0700096 No evidence available 0 true NCBIGene:246329 biolink:gene_associated_with_condition MONDO:0009722 infores:clingen HGNC:28423 MONDO:0009722 Definitive 2020-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940572b9-6a5a-4de1-8ee1-6394f589515f-2020-04-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2516 biolink:gene_associated_with_condition MONDO:0013066 infores:clingen NCBIGene:2516 MONDO:0013066 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4638 biolink:gene_associated_with_condition MONDO:0100354 infores:ubergraph knowledge_assertion manual_agent HGNC:7590 MONDO:0100354 NCBIGene:26580 biolink:gene_associated_with_condition MONDO:0010043 infores:ubergraph knowledge_assertion manual_agent HGNC:15832 MONDO:0010043 NCBIGene:23558 biolink:gene_associated_with_condition MONDO:0033199 infores:ubergraph knowledge_assertion manual_agent HGNC:12738 MONDO:0033199 NCBIGene:84623 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:23204 MONDO:0100038 Disputed 2023-11-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55fd22eb-792f-4e84-926d-846aae0f4733-2023-11-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0007083 infores:ubergraph knowledge_assertion manual_agent HGNC:4274 MONDO:0007083 NCBIGene:4067 biolink:gene_associated_with_condition MONDO:0957271 infores:ubergraph knowledge_assertion manual_agent HGNC:6735 MONDO:0957271 NCBIGene:6868 biolink:gene_associated_with_condition MONDO:0013693 infores:ubergraph knowledge_assertion manual_agent HGNC:195 MONDO:0013693 NCBIGene:4338 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4338 MONDO:0700096 No evidence available 0 true NCBIGene:5271 biolink:gene_associated_with_condition MONDO:0014923 infores:ubergraph knowledge_assertion manual_agent HGNC:8952 MONDO:0014923 NCBIGene:2811 biolink:gene_associated_with_condition MONDO:0008332 infores:clingen HGNC:4439 MONDO:0008332 Definitive 2020-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fef91aa-8c41-4044-b601-da24c2bab351-2020-05-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4566 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7489 MONDO:0009723 Definitive 2021-06-28T15:55:37.306Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f237644-83f5-412e-9bfa-01fbd280c15a-2021-06-28T155537.306Z MT Mitochondrial 0001427 NCBIGene:4669 biolink:gene_associated_with_condition MONDO:0014665 infores:ubergraph knowledge_assertion manual_agent HGNC:7632 MONDO:0014665 NCBIGene:221154 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:31830 MONDO:0044970 Limited 2023-10-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c0069ac-5c56-41c3-a008-f494802e7579-2023-10-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:22895 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22895 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:7337 biolink:gene_associated_with_condition MONDO:0007113 infores:ubergraph knowledge_assertion manual_agent HGNC:12496 MONDO:0007113 NCBIGene:2752 biolink:gene_associated_with_condition MONDO:0012393 infores:clingen NCBIGene:2752 MONDO:0012393 Moderate 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71d7866-437d-48bd-8a98-21e67abdd917-2024-12-13T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9197 biolink:gene_associated_with_condition MONDO:0013772 infores:ubergraph knowledge_assertion manual_agent HGNC:95 MONDO:0013772 NCBIGene:4697 biolink:gene_associated_with_condition MONDO:0033656 infores:ubergraph knowledge_assertion manual_agent HGNC:7687 MONDO:0033656 NCBIGene:4669 biolink:gene_associated_with_condition MONDO:0009656 infores:ubergraph knowledge_assertion manual_agent HGNC:7632 MONDO:0009656 NCBIGene:514 biolink:gene_associated_with_condition MONDO:0013547 infores:ubergraph knowledge_assertion manual_agent HGNC:838 MONDO:0013547 NCBIGene:3851 biolink:gene_associated_with_condition MONDO:0008676 infores:ubergraph knowledge_assertion manual_agent HGNC:6441 MONDO:0008676 NCBIGene:4487 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4487 MONDO:0700096 No evidence available 0 true NCBIGene:147495 biolink:gene_associated_with_condition MONDO:0011549 infores:ubergraph knowledge_assertion manual_agent HGNC:15718 MONDO:0011549 NCBIGene:2077 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2077 MONDO:0700096 No evidence available 0 true NCBIGene:6439 biolink:gene_associated_with_condition MONDO:0009929 infores:clingen HGNC:10801 MONDO:0009929 Definitive 2024-10-17T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4bfa265f-3b7a-4091-8e97-b13a7f4f2de7-2024-10-17T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:5189 biolink:gene_associated_with_condition MONDO:0100259 infores:ubergraph knowledge_assertion manual_agent HGNC:8850 MONDO:0100259 NCBIGene:253827 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen NCBIGene:253827 MONDO:0019497 Definitive 2021-11-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ea7c7e0-dc56-4484-b2b6-5e3899d04013-2021-11-30T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:89869 biolink:gene_associated_with_condition MONDO:0014970 infores:ubergraph knowledge_assertion manual_agent HGNC:19218 MONDO:0014970 NCBIGene:23607 biolink:gene_associated_with_condition MONDO:0005363 infores:clingen HGNC:14258 MONDO:0005363 Moderate 2024-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cae2640-258f-4ba1-8510-2b4db97cf36c-2024-06-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:112812 biolink:gene_associated_with_condition MONDO:0020714 infores:ubergraph knowledge_assertion manual_agent HGNC:30546 MONDO:0020714 NCBIGene:7284 biolink:gene_associated_with_condition MONDO:0012534 infores:ubergraph knowledge_assertion manual_agent HGNC:12420 MONDO:0012534 NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0800477 infores:clingen HGNC:18420 MONDO:0800477 Definitive 2023-10-03T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8d0235a-b48e-4609-8c61-09586a83d1f2-2023-10-03T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:226 biolink:gene_associated_with_condition MONDO:0012747 infores:ubergraph knowledge_assertion manual_agent HGNC:414 MONDO:0012747 NCBIGene:4704 biolink:gene_associated_with_condition MONDO:0032630 infores:ubergraph knowledge_assertion manual_agent HGNC:7693 MONDO:0032630 NCBIGene:7177 biolink:gene_associated_with_condition MONDO:0850201 infores:clingen NCBIGene:7177 MONDO:0850201 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1476 biolink:gene_associated_with_condition MONDO:0009698 infores:clingen NCBIGene:1476 MONDO:0009698 Definitive 2020-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2926506c-5b75-4340-b821-e3ac846b6621-2020-06-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:347733 biolink:gene_associated_with_condition MONDO:0000904 infores:clingen NCBIGene:347733 MONDO:0000904 Definitive 2020-04-26T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81ced164-4ef1-4256-a727-84e79930efcc-2020-04-26T040000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6709 MONDO:0700096 No evidence available 0 true NCBIGene:387787 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:37216 MONDO:0044970 Limited 2024-04-29T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8b411b3-7d8d-4fc4-89a5-f688f8117414-2024-04-29T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:9419 biolink:gene_associated_with_condition MONDO:0014347 infores:ubergraph knowledge_assertion manual_agent HGNC:14312 MONDO:0014347 NCBIGene:4629 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen NCBIGene:4629 MONDO:0019625 Definitive 2016-07-03T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8252 AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:27252 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:25056 MONDO:0100038 Moderate 2025-06-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_753f86af-5043-49d7-84af-e8264f67d18d-2025-06-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9681 biolink:gene_associated_with_condition MONDO:0957780 infores:ubergraph knowledge_assertion manual_agent HGNC:18423 MONDO:0957780 NCBIGene:10806 biolink:gene_associated_with_condition MONDO:0014444 infores:ubergraph knowledge_assertion manual_agent HGNC:10671 MONDO:0014444 NCBIGene:255928 biolink:gene_associated_with_condition MONDO:0013645 infores:ubergraph knowledge_assertion manual_agent HGNC:23143 MONDO:0013645 NCBIGene:3845 biolink:gene_associated_with_condition MONDO:0012371 infores:ubergraph knowledge_assertion manual_agent HGNC:6407 MONDO:0012371 NCBIGene:2752 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2752 MONDO:0700096 No evidence available 0 true NCBIGene:6335 biolink:gene_associated_with_condition MONDO:0007571 infores:ubergraph knowledge_assertion manual_agent HGNC:10597 MONDO:0007571 NCBIGene:5244 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5244 MONDO:0700096 No evidence available 0 true NCBIGene:2643 biolink:gene_associated_with_condition MONDO:0100184 infores:clingen HGNC:4193 MONDO:0100184 Definitive 2020-12-11T20:09:37.286Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed6c1e6c-5856-48aa-aa8f-47328e6b09eb-2020-12-11T200937.286Z SD Semidominant 0032113 NCBIGene:2773 biolink:gene_associated_with_condition MONDO:0011234 infores:ubergraph knowledge_assertion manual_agent HGNC:4387 MONDO:0011234 NCBIGene:53335 biolink:gene_associated_with_condition MONDO:0014914 infores:clingen NCBIGene:53335 MONDO:0014914 Definitive 2020-09-13T17:18:07.228Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9630f9a3-3f90-49c6-ae8b-6313c950b1b2-2020-09-13T171807.228Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1460 biolink:gene_associated_with_condition MONDO:0032889 infores:clingen HGNC:2460 MONDO:0032889 Definitive 2022-04-08T05:09:21.681Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64552de0-3f81-4110-90f7-97de14b0387b-2022-04-08T050921.681Z AD Autosomal Dominant 0000006 NCBIGene:1727 biolink:gene_associated_with_condition MONDO:0009606 infores:ubergraph knowledge_assertion manual_agent HGNC:2873 MONDO:0009606 NCBIGene:84131 biolink:gene_associated_with_condition MONDO:0020778 infores:ubergraph knowledge_assertion manual_agent HGNC:25740 MONDO:0020778 NCBIGene:7168 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:12010 MONDO:0005045 Definitive 2023-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32e7ed58-ee49-4719-b48e-7fad58012319-2023-12-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5078 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:8618 MONDO:0015967 Refuted 2022-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2e54103-c1c4-4095-8a12-d602e5326d90-2022-12-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:11073 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:17008 MONDO:0015924 No Known Disease Relationship 2022-11-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dfd5fc5-a4cb-4beb-8486-eae7675d08af-2022-11-22T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9187 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:10975 MONDO:0019118 Definitive 2024-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3071ba1a-21c2-46a7-a5e9-bc53c015c7a9-2024-09-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2068 biolink:gene_associated_with_condition MONDO:0011125 infores:ubergraph knowledge_assertion manual_agent HGNC:3434 MONDO:0011125 NCBIGene:3816 biolink:gene_associated_with_condition MONDO:0014415 infores:ubergraph knowledge_assertion manual_agent HGNC:6357 MONDO:0014415 NCBIGene:6469 biolink:gene_associated_with_condition MONDO:0007733 infores:ubergraph knowledge_assertion manual_agent HGNC:10848 MONDO:0007733 NCBIGene:91137 biolink:gene_associated_with_condition MONDO:0030260 infores:ubergraph knowledge_assertion manual_agent HGNC:25198 MONDO:0030260 NCBIGene:55755 biolink:gene_associated_with_condition MONDO:0011488 infores:ubergraph knowledge_assertion manual_agent HGNC:18672 MONDO:0011488 NCBIGene:10382 biolink:gene_associated_with_condition MONDO:0007493 infores:ubergraph knowledge_assertion manual_agent HGNC:20774 MONDO:0007493 NCBIGene:51816 biolink:gene_associated_with_condition MONDO:0100317 infores:ubergraph knowledge_assertion manual_agent HGNC:1839 MONDO:0100317 NCBIGene:344 biolink:gene_associated_with_condition MONDO:0008810 infores:clingen NCBIGene:344 MONDO:0008810 Gene associated with autosomal recessive phenotype 30 NCBIGene:149465 biolink:gene_associated_with_condition MONDO:0975747 infores:ubergraph knowledge_assertion manual_agent HGNC:26485 MONDO:0975747 NCBIGene:1500 biolink:gene_associated_with_condition MONDO:0040503 infores:clingen HGNC:2515 MONDO:0040503 Definitive 2024-03-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5000144a-71c1-4ae7-95a9-17ad67a388c5-2024-03-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1959 biolink:gene_associated_with_condition MONDO:0011890 infores:ubergraph knowledge_assertion manual_agent HGNC:3239 MONDO:0011890 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0020341 infores:clingen HGNC:3754 MONDO:0020341 Definitive 2020-12-27T23:11:55.213Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80bc6280-7c21-4168-8a98-93c31fead5d7-2020-12-27T231155.213Z XL X-linked 0001417 NCBIGene:16 biolink:gene_associated_with_condition MONDO:0013212 infores:ubergraph knowledge_assertion manual_agent HGNC:20 MONDO:0013212 NCBIGene:4659 biolink:gene_associated_with_condition MONDO:0032934 infores:ubergraph knowledge_assertion manual_agent HGNC:7618 MONDO:0032934 NCBIGene:7134 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7134 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:120892 biolink:gene_associated_with_condition MONDO:0011764 infores:ubergraph knowledge_assertion manual_agent HGNC:18618 MONDO:0011764 NCBIGene:8398 biolink:gene_associated_with_condition MONDO:0017998 infores:clingen HGNC:9039 MONDO:0017998 Definitive 2024-03-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d183700f-e6cc-482f-a3ed-f18f8154f092-2024-03-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84720 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:23215 MONDO:0100038 Definitive 2021-10-21T00:46:41.341Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_830b11ca-6ec1-4aa9-bb44-379f03f738c7-2021-10-21T004641.341Z AR Autosomal Recessive 0000007 NCBIGene:6594 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen HGNC:11097 MONDO:0100284 Limited 2022-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce97120a-5094-4768-b305-941353791584-2022-08-03T160000.000Z XL X-linked 0001417 NCBIGene:79867 biolink:gene_associated_with_condition MONDO:0014724 infores:ubergraph knowledge_assertion manual_agent HGNC:25774 MONDO:0014724 NCBIGene:23162 biolink:gene_associated_with_condition MONDO:0032755 infores:ubergraph knowledge_assertion manual_agent HGNC:6884 MONDO:0032755 NCBIGene:10464 biolink:gene_associated_with_condition MONDO:0033311 infores:ubergraph knowledge_assertion manual_agent HGNC:23352 MONDO:0033311 NCBIGene:5295 biolink:gene_associated_with_condition MONDO:0014083 infores:clingen HGNC:8979 MONDO:0014083 Limited 2021-05-20T15:34:38.351Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e019aaad-09a8-44c4-9fc0-12a1d53e79db-2021-05-20T153438.351Z AR Autosomal Recessive 0000007 NCBIGene:54014 biolink:gene_associated_with_condition MONDO:0957396 infores:ubergraph knowledge_assertion manual_agent HGNC:12760 MONDO:0957396 NCBIGene:374462 biolink:gene_associated_with_condition MONDO:0033260 infores:ubergraph knowledge_assertion manual_agent HGNC:9679 MONDO:0033260 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0100455 infores:clingen HGNC:6296 MONDO:0100455 Definitive 2022-06-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a631c0a5-8751-42df-878f-4b4ee9d1ec5c-2022-06-21T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:56006 biolink:gene_associated_with_condition MONDO:0859274 infores:ubergraph knowledge_assertion manual_agent HGNC:25763 MONDO:0859274 NCBIGene:5575 biolink:gene_associated_with_condition MONDO:0859214 infores:ubergraph knowledge_assertion manual_agent HGNC:9390 MONDO:0859214 NCBIGene:2992 biolink:gene_associated_with_condition MONDO:0014526 infores:clingen HGNC:4699 MONDO:0014526 Definitive 2023-03-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5a4546e-f7a6-4d4a-bd0d-763e2b7dca74-2023-03-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6840 biolink:gene_associated_with_condition MONDO:0033620 infores:ubergraph knowledge_assertion manual_agent HGNC:11480 MONDO:0033620 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:10586 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10158 AD Autosomal Dominant 0000006 NCBIGene:148867 biolink:gene_associated_with_condition MONDO:0957595 infores:ubergraph knowledge_assertion manual_agent HGNC:19306 MONDO:0957595 NCBIGene:56983 biolink:gene_associated_with_condition MONDO:0014307 infores:ubergraph knowledge_assertion manual_agent HGNC:22954 MONDO:0014307 NCBIGene:284252 biolink:gene_associated_with_condition MONDO:0008404 infores:ubergraph knowledge_assertion manual_agent HGNC:18249 MONDO:0008404 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0007222 infores:ubergraph knowledge_assertion manual_agent HGNC:5136 MONDO:0007222 NCBIGene:1758 biolink:gene_associated_with_condition MONDO:0009430 infores:clingen NCBIGene:1758 MONDO:0009430 Gene associated with autosomal recessive phenotype 30 NCBIGene:58497 biolink:gene_associated_with_condition MONDO:0060490 infores:ubergraph knowledge_assertion manual_agent HGNC:13420 MONDO:0060490 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0007078 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0007078 NCBIGene:339829 biolink:gene_associated_with_condition MONDO:0013434 infores:ubergraph knowledge_assertion manual_agent HGNC:25244 MONDO:0013434 NCBIGene:203190 biolink:gene_associated_with_condition MONDO:0859277 infores:ubergraph knowledge_assertion manual_agent HGNC:18711 MONDO:0859277 NCBIGene:166929 biolink:gene_associated_with_condition MONDO:0007470 infores:ubergraph knowledge_assertion manual_agent HGNC:28395 MONDO:0007470 NCBIGene:203547 biolink:gene_associated_with_condition MONDO:0010684 infores:ubergraph knowledge_assertion manual_agent HGNC:22082 MONDO:0010684 NCBIGene:190 biolink:gene_associated_with_condition MONDO:0010264 infores:ubergraph knowledge_assertion manual_agent HGNC:7960 MONDO:0010264 NCBIGene:26153 biolink:gene_associated_with_condition MONDO:0000904 infores:clingen HGNC:20226 MONDO:0000904 Strong 2024-03-12T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3056587d-5d40-4bef-bac8-4e84c3f657bf-2024-03-12T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:3795 biolink:gene_associated_with_condition MONDO:0009252 infores:ubergraph knowledge_assertion manual_agent HGNC:6315 MONDO:0009252 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0010317 infores:ubergraph knowledge_assertion manual_agent HGNC:18060 MONDO:0010317 NCBIGene:1499 biolink:gene_associated_with_condition MONDO:0100571 infores:clingen HGNC:2514 MONDO:0100571 Definitive 2024-02-08T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e119aceb-a011-4811-9abd-6731c5b3d15d-2024-02-08T110000.000Z AD Autosomal Dominant 0000006 NCBIGene:1829 biolink:gene_associated_with_condition MONDO:0013030 infores:ubergraph knowledge_assertion manual_agent HGNC:3049 MONDO:0013030 NCBIGene:1763 biolink:gene_associated_with_condition MONDO:0970950 infores:ubergraph knowledge_assertion manual_agent HGNC:2939 MONDO:0970950 NCBIGene:9371 biolink:gene_associated_with_condition MONDO:0030071 infores:ubergraph knowledge_assertion manual_agent HGNC:6320 MONDO:0030071 NCBIGene:51057 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51057 MONDO:0700096 No evidence available 0 true NCBIGene:23250 biolink:gene_associated_with_condition MONDO:0030724 infores:ubergraph knowledge_assertion manual_agent HGNC:13552 MONDO:0030724 NCBIGene:7345 biolink:gene_associated_with_condition MONDO:0013340 infores:ubergraph knowledge_assertion manual_agent HGNC:12513 MONDO:0013340 NCBIGene:8540 biolink:gene_associated_with_condition MONDO:0100274 infores:clingen HGNC:327 MONDO:0100274 Definitive 2022-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba640e2-c95d-414b-8c72-d22769e4366a-2022-04-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1825 biolink:gene_associated_with_condition MONDO:0013136 infores:clingen NCBIGene:1825 MONDO:0013136 Gene associated with autosomal recessive phenotype 30 NCBIGene:4306 biolink:gene_associated_with_condition MONDO:0011517 infores:clingen HGNC:7979 MONDO:0011517 Limited 2021-07-15T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26410755-d552-4111-9f23-14dbeaa99293-2021-07-15T023000.000Z AD Autosomal Dominant 0000006 NCBIGene:710 biolink:gene_associated_with_condition MONDO:0033946 infores:clingen HGNC:1228 MONDO:0033946 Definitive 2022-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb571a69-47a6-4e28-a837-b9df492526c9-2022-12-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6660 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6660 MONDO:0700096 No evidence available 0 true NCBIGene:84984 biolink:gene_associated_with_condition MONDO:0014309 infores:ubergraph knowledge_assertion manual_agent HGNC:28209 MONDO:0014309 NCBIGene:114609 biolink:gene_associated_with_condition MONDO:0013723 infores:ubergraph knowledge_assertion manual_agent HGNC:17192 MONDO:0013723 NCBIGene:5885 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5885 MONDO:0700096 No evidence available 0 true NCBIGene:25970 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25970 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:129563 biolink:gene_associated_with_condition MONDO:0009965 infores:clingen NCBIGene:129563 MONDO:0009965 Definitive 2019-11-21T19:30:52.781Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e68b93df-e0e7-4d46-8934-8b86064c0b37-2019-11-21T193052.781Z AR Autosomal Recessive 0000007 true Little evidence for dosage pathogenicity 1 NCBIGene:51728 biolink:gene_associated_with_condition MONDO:0030263 infores:clingen HGNC:14121 MONDO:0030263 Limited 2025-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a973db0-b454-4779-a63d-c3f98ca979ab-2025-11-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4771 biolink:gene_associated_with_condition MONDO:0007039 infores:clingen NCBIGene:4771 MONDO:0007039 Definitive 2019-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a185a859-a499-4c4a-bebe-996b16fb3cf3-2019-02-27T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:56623 biolink:gene_associated_with_condition MONDO:0008944 infores:clingen NCBIGene:56623 MONDO:0008944 Definitive 2021-09-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5fb970a-8747-4c3e-8465-d8cb007c1428-2021-09-08T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10715 biolink:gene_associated_with_condition MONDO:0014545 infores:ubergraph knowledge_assertion manual_agent HGNC:14253 MONDO:0014545 NCBIGene:8526 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8526 MONDO:0700096 No evidence available 0 true NCBIGene:2584 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2584 MONDO:0700096 No evidence available 0 true NCBIGene:4035 biolink:gene_associated_with_condition MONDO:0958037 infores:ubergraph knowledge_assertion manual_agent HGNC:6692 MONDO:0958037 NCBIGene:1001 biolink:gene_associated_with_condition MONDO:0009155 infores:ubergraph knowledge_assertion manual_agent HGNC:1762 MONDO:0009155 NCBIGene:2055 biolink:gene_associated_with_condition MONDO:0010830 infores:ubergraph knowledge_assertion manual_agent HGNC:2079 MONDO:0010830 NCBIGene:7128 biolink:gene_associated_with_condition MONDO:0100222 infores:ubergraph knowledge_assertion manual_agent HGNC:11896 MONDO:0100222 NCBIGene:1639 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:2711 MONDO:0004976 Moderate 2023-08-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd19f2c-2499-417f-94c8-2bd4bedf34ef-2023-08-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2065 biolink:gene_associated_with_condition MONDO:0011868 infores:ubergraph knowledge_assertion manual_agent HGNC:3431 MONDO:0011868 NCBIGene:9126 biolink:gene_associated_with_condition MONDO:0012555 infores:ubergraph knowledge_assertion manual_agent HGNC:2468 MONDO:0012555 NCBIGene:3032 biolink:gene_associated_with_condition MONDO:0958185 infores:ubergraph knowledge_assertion manual_agent HGNC:4803 MONDO:0958185 NCBIGene:4677 biolink:gene_associated_with_condition MONDO:0100348 infores:clingen HGNC:7643 MONDO:0100348 Moderate 2024-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c46ba676-3297-4e2c-a88f-bc479c32de60-2024-03-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:26057 biolink:gene_associated_with_condition MONDO:0859186 infores:ubergraph knowledge_assertion manual_agent HGNC:23575 MONDO:0859186 NCBIGene:282996 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:27424 MONDO:0005045 Limited 2023-10-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35dd9f5a-7575-4899-aadf-3e1234a44f2d-2023-10-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:238 biolink:gene_associated_with_condition MONDO:0013083 infores:ubergraph knowledge_assertion manual_agent HGNC:427 MONDO:0013083 NCBIGene:55005 biolink:gene_associated_with_condition MONDO:0013969 infores:ubergraph knowledge_assertion manual_agent HGNC:21176 MONDO:0013969 NCBIGene:8048 biolink:gene_associated_with_condition MONDO:0011840 infores:ubergraph knowledge_assertion manual_agent HGNC:2472 MONDO:0011840 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0007350 infores:ubergraph knowledge_assertion manual_agent HGNC:8620 MONDO:0007350 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0976267 infores:ubergraph knowledge_assertion manual_agent HGNC:29077 MONDO:0976267 NCBIGene:7043 biolink:gene_associated_with_condition MONDO:0014262 infores:ubergraph knowledge_assertion manual_agent HGNC:11769 MONDO:0014262 NCBIGene:83552 biolink:gene_associated_with_condition MONDO:0012605 infores:ubergraph knowledge_assertion manual_agent HGNC:18121 MONDO:0012605 NCBIGene:388552 biolink:gene_associated_with_condition MONDO:0013560 infores:ubergraph knowledge_assertion manual_agent HGNC:20914 MONDO:0013560 NCBIGene:5931 biolink:gene_associated_with_condition MONDO:0976123 infores:ubergraph knowledge_assertion manual_agent HGNC:9890 MONDO:0976123 NCBIGene:56683 biolink:gene_associated_with_condition MONDO:0014211 infores:clingen HGNC:1301 MONDO:0014211 Moderate 2023-08-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f29143ae-869e-4e4c-8464-8c61f2c2663c-2023-08-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0020459 infores:clingen HGNC:4827 MONDO:0020459 Definitive 2024-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_814a7d4b-c79b-4f68-9873-0d8477ee95a2-2024-02-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:51567 biolink:gene_associated_with_condition MONDO:0014846 infores:ubergraph knowledge_assertion manual_agent HGNC:17768 MONDO:0014846 NCBIGene:5159 biolink:gene_associated_with_condition MONDO:0014004 infores:ubergraph knowledge_assertion manual_agent HGNC:8804 MONDO:0014004 NCBIGene:4882 biolink:gene_associated_with_condition MONDO:0011275 infores:ubergraph knowledge_assertion manual_agent HGNC:7944 MONDO:0011275 NCBIGene:4534 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4534 MONDO:0700096 No evidence available 0 true NCBIGene:2627 biolink:gene_associated_with_condition MONDO:0100540 infores:ubergraph knowledge_assertion manual_agent HGNC:4174 MONDO:0100540 NCBIGene:55362 biolink:gene_associated_with_condition MONDO:0800503 infores:ubergraph knowledge_assertion manual_agent HGNC:17735 MONDO:0800503 NCBIGene:916 biolink:gene_associated_with_condition MONDO:0014278 infores:clingen NCBIGene:916 MONDO:0014278 Definitive 2021-01-26T17:29:08.775Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29d6bb32-65b3-4c78-9c94-da71cc591565-2021-01-26T172908.775Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:149465 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:26485 MONDO:0016575 Limited 2022-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50ed292f-0044-4c82-9419-a040cbcaf205-2022-06-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4564 biolink:gene_associated_with_condition MONDO:0800034 infores:ubergraph knowledge_assertion manual_agent HGNC:7487 MONDO:0800034 NCBIGene:3839 biolink:gene_associated_with_condition MONDO:0859309 infores:ubergraph knowledge_assertion manual_agent HGNC:6396 MONDO:0859309 NCBIGene:283847 biolink:gene_associated_with_condition MONDO:0030493 infores:ubergraph knowledge_assertion manual_agent HGNC:26675 MONDO:0030493 NCBIGene:2743 biolink:gene_associated_with_condition MONDO:0013828 infores:ubergraph knowledge_assertion manual_agent HGNC:4329 MONDO:0013828 NCBIGene:2904 biolink:gene_associated_with_condition MONDO:0013509 infores:ubergraph knowledge_assertion manual_agent HGNC:4586 MONDO:0013509 NCBIGene:6123 biolink:gene_associated_with_condition MONDO:0030300 infores:ubergraph knowledge_assertion manual_agent HGNC:10351 MONDO:0030300 NCBIGene:79053 biolink:gene_associated_with_condition MONDO:0011969 infores:ubergraph knowledge_assertion manual_agent HGNC:23161 MONDO:0011969 NCBIGene:84976 biolink:gene_associated_with_condition MONDO:0976262 infores:ubergraph knowledge_assertion manual_agent HGNC:19711 MONDO:0976262 NCBIGene:8456 biolink:gene_associated_with_condition MONDO:0011132 infores:clingen HGNC:12765 MONDO:0011132 Definitive 2021-11-05T18:16:26.460Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4518c986-fb1d-4f9a-a24a-ab38891a0162-2021-11-05T181626.460Z SD Semidominant 0032113 NCBIGene:1327 biolink:gene_associated_with_condition MONDO:0033651 infores:ubergraph knowledge_assertion manual_agent HGNC:2265 MONDO:0033651 NCBIGene:5077 biolink:gene_associated_with_condition MONDO:0008670 infores:clingen NCBIGene:5077 MONDO:0008670 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6598 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6598 MONDO:0700096 No evidence available 0 true NCBIGene:25939 biolink:gene_associated_with_condition MONDO:0700260 infores:clingen NCBIGene:25939 MONDO:0700260 Definitive 2024-07-01T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdb550bf-9374-440d-b5cd-29ba7c64c49d-2024-07-01T180000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51135 biolink:gene_associated_with_condition MONDO:0011888 infores:ubergraph knowledge_assertion manual_agent HGNC:17967 MONDO:0011888 NCBIGene:708 biolink:gene_associated_with_condition MONDO:0054677 infores:ubergraph knowledge_assertion manual_agent HGNC:1243 MONDO:0054677 NCBIGene:525 biolink:gene_associated_with_condition MONDO:0009968 infores:ubergraph knowledge_assertion manual_agent HGNC:853 MONDO:0009968 NCBIGene:64072 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:13733 MONDO:0019497 Definitive 2018-05-22T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5799772-f233-4004-99a8-e6a0dddf0e8b-2018-05-22T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:255738 biolink:gene_associated_with_condition MONDO:0011369 infores:clingen NCBIGene:255738 MONDO:0011369 Definitive 2018-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf710ddc-c189-419f-ab70-25300b067db2-2018-11-14T170000.000Z AD Autosomal Dominant 0000006 true Dosage sensitivity unlikely 40 NCBIGene:90167 biolink:gene_associated_with_condition MONDO:0010693 infores:clingen NCBIGene:90167 MONDO:0010693 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5191 biolink:gene_associated_with_condition MONDO:0013945 infores:ubergraph knowledge_assertion manual_agent HGNC:8860 MONDO:0013945 NCBIGene:4854 biolink:gene_associated_with_condition MONDO:0000914 infores:ubergraph knowledge_assertion manual_agent HGNC:7883 MONDO:0000914 NCBIGene:2162 biolink:gene_associated_with_condition MONDO:0013187 infores:ubergraph knowledge_assertion manual_agent HGNC:3531 MONDO:0013187 NCBIGene:5340 biolink:gene_associated_with_condition MONDO:0100538 infores:ubergraph knowledge_assertion manual_agent HGNC:9071 MONDO:0100538 NCBIGene:7422 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen NCBIGene:7422 MONDO:0005453 Limited 2024-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd2d1e9f-ef0b-4294-8f70-2ed0ab594332-2024-05-07T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:124842 biolink:gene_associated_with_condition MONDO:0019588 infores:clingen HGNC:26991 MONDO:0019588 Limited 2022-01-26T16:32:40.414Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_867fc085-f2f4-40f6-8b96-565d131fd964-2022-01-26T163240.414Z AR Autosomal Recessive 0000007 NCBIGene:6834 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:11474 MONDO:0044970 Definitive 2024-10-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb277c3-4551-4bd1-ae88-ca2c8c56692e-2024-10-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:144568 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:23336 MONDO:0018997 Disputed 2018-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d910a9d8-516e-443d-acba-8d61f7574792-2018-06-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:144165 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:17019 MONDO:0005027 Disputed 2020-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71a3c632-fd63-4103-a069-5e9e413043e7-2020-09-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8289 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:11110 MONDO:0015452 Definitive 2021-07-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aaf6d47a-656a-49ca-ba9e-169f25bf03e7-2021-07-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23479 biolink:gene_associated_with_condition MONDO:0009706 infores:ubergraph knowledge_assertion manual_agent HGNC:29882 MONDO:0009706 NCBIGene:4568 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7491 MONDO:0009723 Disputed 2021-04-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cee9c77-e47a-4b2f-8029-b1da28799df6-2021-04-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:54795 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:17993 MONDO:0015263 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10164 AD Autosomal Dominant 0000006 NCBIGene:8556 biolink:gene_associated_with_condition MONDO:0012091 infores:ubergraph knowledge_assertion manual_agent HGNC:1718 MONDO:0012091 NCBIGene:4724 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7711 MONDO:0009723 Definitive 2019-04-08T16:29:53.550Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ed6ae7f-8c64-4ca3-a71b-6e97ae21d71d-2019-04-08T162953.550Z AR Autosomal Recessive 0000007 NCBIGene:10518 biolink:gene_associated_with_condition MONDO:0013935 infores:ubergraph knowledge_assertion manual_agent HGNC:24579 MONDO:0013935 NCBIGene:6899 biolink:gene_associated_with_condition MONDO:0008564 infores:ubergraph knowledge_assertion manual_agent HGNC:11592 MONDO:0008564 NCBIGene:4329 biolink:gene_associated_with_condition MONDO:0013579 infores:clingen HGNC:7179 MONDO:0013579 Limited 2022-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ca1521-9336-4769-bc55-240089dab917-2022-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:64175 biolink:gene_associated_with_condition MONDO:0012581 infores:clingen NCBIGene:64175 MONDO:0012581 Gene associated with autosomal recessive phenotype 30 NCBIGene:1954 biolink:gene_associated_with_condition MONDO:0013998 infores:clingen HGNC:3233 MONDO:0013998 Moderate 2021-12-23T19:30:47.075Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd9400f1-2c0b-4ffd-989a-486b81779a53-2021-12-23T193047.075Z AR Autosomal Recessive 0000007 NCBIGene:221322 biolink:gene_associated_with_condition MONDO:0009795 infores:ubergraph knowledge_assertion manual_agent HGNC:21485 MONDO:0009795 NCBIGene:1729 biolink:gene_associated_with_condition MONDO:0044635 infores:clingen HGNC:2876 MONDO:0044635 Definitive 2018-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43c017fd-ce70-4fbe-ad30-90f216adaa7d-2018-01-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:11112 biolink:gene_associated_with_condition MONDO:0009371 infores:clingen HGNC:4907 MONDO:0009371 Limited 2023-03-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9c11f5a-a86b-4d60-ba51-7c2c8592f60a-2023-03-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:91875 biolink:gene_associated_with_condition MONDO:0030999 infores:ubergraph knowledge_assertion manual_agent HGNC:19274 MONDO:0030999 NCBIGene:64432 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14511 MONDO:0044970 Limited 2024-06-20T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c0105a1-52a1-4674-b0d2-61bba99d1d9a-2024-06-20T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:11232 biolink:gene_associated_with_condition MONDO:0012415 infores:ubergraph knowledge_assertion manual_agent HGNC:9180 MONDO:0012415 NCBIGene:23133 biolink:gene_associated_with_condition MONDO:0010286 infores:ubergraph knowledge_assertion manual_agent HGNC:20672 MONDO:0010286 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0011633 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0011633 NCBIGene:162 biolink:gene_associated_with_condition MONDO:0009440 infores:clingen HGNC:554 MONDO:0009440 Definitive 2024-08-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_670db330-6dc2-44b1-9e65-c7758b1aecb2-2024-08-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:157657 biolink:gene_associated_with_condition MONDO:0044308 infores:ubergraph knowledge_assertion manual_agent HGNC:27232 MONDO:0044308 NCBIGene:5897 biolink:gene_associated_with_condition MONDO:0000573 infores:clingen HGNC:9832 MONDO:0000573 Definitive 2021-08-19T14:05:20.555Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e9918ba-b94a-4526-bd99-09abef894225-2021-08-19T140520.555Z AR Autosomal Recessive 0000007 NCBIGene:440 biolink:gene_associated_with_condition MONDO:0014258 infores:clingen HGNC:753 MONDO:0014258 Definitive 2020-06-29T17:44:49.301Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1cea57d-fe02-469e-8c52-a383c3f5a0c6-2020-06-29T174449.301Z AR Autosomal Recessive 0000007 NCBIGene:25839 biolink:gene_associated_with_condition MONDO:0013281 infores:ubergraph knowledge_assertion manual_agent HGNC:18620 MONDO:0013281 NCBIGene:5934 biolink:gene_associated_with_condition MONDO:0859217 infores:ubergraph knowledge_assertion manual_agent HGNC:9894 MONDO:0859217 NCBIGene:197322 biolink:gene_associated_with_condition MONDO:0013661 infores:ubergraph knowledge_assertion manual_agent HGNC:27288 MONDO:0013661 NCBIGene:55252 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55252 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3908 biolink:gene_associated_with_condition MONDO:0100228 infores:ubergraph knowledge_assertion manual_agent HGNC:6482 MONDO:0100228 NCBIGene:9147 biolink:gene_associated_with_condition MONDO:0030849 infores:clingen HGNC:10663 MONDO:0030849 Strong 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67f2bf82-cc3e-4006-a8e6-3f6f1dcb2513-2023-10-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0007548 infores:ubergraph knowledge_assertion manual_agent HGNC:2214 MONDO:0007548 NCBIGene:8450 biolink:gene_associated_with_condition MONDO:0010306 infores:ubergraph knowledge_assertion manual_agent HGNC:2555 MONDO:0010306 NCBIGene:9024 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:11405 MONDO:0100038 Definitive 2021-02-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_327881a5-52fd-42bd-a500-c94514a7aed3-2021-02-03T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:291 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:10990 MONDO:0009723 Limited 2021-06-14T15:17:38.675Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a6890a4-e2d5-4895-956d-3f3103ec6a2b-2021-06-14T151738.675Z AD Autosomal Dominant 0000006 NCBIGene:23414 biolink:gene_associated_with_condition MONDO:0012431 infores:ubergraph knowledge_assertion manual_agent HGNC:16700 MONDO:0012431 NCBIGene:167691 biolink:gene_associated_with_condition MONDO:0100445 infores:clingen HGNC:31923 MONDO:0100445 Definitive 2021-10-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ece57d88-4307-420a-aedb-4b5900248ea1-2021-10-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2588 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2588 MONDO:0700096 No evidence available 0 true NCBIGene:5818 biolink:gene_associated_with_condition MONDO:0009151 infores:ubergraph knowledge_assertion manual_agent HGNC:9706 MONDO:0009151 NCBIGene:151 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:282 MONDO:0005027 Refuted 2024-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef3edc91-d4fd-4704-895e-c08f45f88fe7-2024-06-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5244 biolink:gene_associated_with_condition MONDO:0010939 infores:ubergraph knowledge_assertion manual_agent HGNC:45 MONDO:0010939 NCBIGene:10655 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10655 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:229 biolink:gene_associated_with_condition MONDO:0009249 infores:clingen HGNC:417 MONDO:0009249 Definitive 2025-09-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9997dba9-812f-4480-98d8-d0b3a050dbc7-2025-09-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1291 biolink:gene_associated_with_condition MONDO:0100225 infores:clingen HGNC:2211 MONDO:0100225 Definitive 2022-09-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95ee3b63-8083-49e2-9e20-a1006ac168dd-2022-09-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:527 biolink:gene_associated_with_condition MONDO:0958196 infores:ubergraph knowledge_assertion manual_agent HGNC:855 MONDO:0958196 NCBIGene:64834 biolink:gene_associated_with_condition MONDO:0032798 infores:ubergraph knowledge_assertion manual_agent HGNC:14418 MONDO:0032798 NCBIGene:5965 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:9948 MONDO:0016248 No Known Disease Relationship 2016-09-14T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8701 AD Autosomal Dominant 0000006 NCBIGene:26277 biolink:gene_associated_with_condition MONDO:0013522 infores:ubergraph knowledge_assertion manual_agent HGNC:11824 MONDO:0013522 NCBIGene:51086 biolink:gene_associated_with_condition MONDO:0014500 infores:ubergraph knowledge_assertion manual_agent HGNC:19661 MONDO:0014500 NCBIGene:23236 biolink:gene_associated_with_condition MONDO:0013389 infores:clingen NCBIGene:23236 MONDO:0013389 Gene associated with autosomal recessive phenotype 30 NCBIGene:81846 biolink:gene_associated_with_condition MONDO:0011475 infores:clingen NCBIGene:81846 MONDO:0011475 Definitive 2021-03-22T20:13:09.257Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01893bf4-e95d-4206-9d2e-e3822f778b7a-2021-03-22T201309.257Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:256471 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:28486 MONDO:0016295 Definitive 2020-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f42cb66-5f28-4674-8f5a-76e15880bbfc-2020-12-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:50506 biolink:gene_associated_with_condition MONDO:0011792 infores:ubergraph knowledge_assertion manual_agent HGNC:13273 MONDO:0011792 NCBIGene:10299 biolink:gene_associated_with_condition MONDO:0013322 infores:ubergraph knowledge_assertion manual_agent HGNC:30550 MONDO:0013322 NCBIGene:6915 biolink:gene_associated_with_condition MONDO:0800446 infores:ubergraph knowledge_assertion manual_agent HGNC:11608 MONDO:0800446 NCBIGene:8729 biolink:gene_associated_with_condition MONDO:0011675 infores:ubergraph knowledge_assertion manual_agent HGNC:4181 MONDO:0011675 NCBIGene:10518 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:24579 MONDO:0019497 Definitive 2018-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4187cb6-182f-43fc-aeec-d27297c36bdb-2018-02-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10730 biolink:gene_associated_with_condition MONDO:0015011 infores:clingen HGNC:12843 MONDO:0015011 Limited 2025-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a187bfd-89e8-49f1-82a2-b5312960c722-2025-01-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:83990 biolink:gene_associated_with_condition MONDO:0012187 infores:clingen HGNC:20473 MONDO:0012187 Definitive 2019-08-18T16:04:42.255Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40aae4ea-8c9b-42a7-9d02-0f52a184712f-2019-08-18T160442.255Z AR Autosomal Recessive 0000007 NCBIGene:79581 biolink:gene_associated_with_condition MONDO:0013867 infores:clingen HGNC:30224 MONDO:0013867 Definitive 2023-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a500078-4cd5-49db-b22e-c5628ee07304-2023-09-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7498 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7498 MONDO:0700096 No evidence available 0 true NCBIGene:283310 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26901 MONDO:0019497 Definitive 2018-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b962a1-8394-4366-8746-4b71a59cd60b-2018-01-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5456 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen NCBIGene:5456 MONDO:0019497 Definitive 2018-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ab4f4a3-757d-4de3-90e7-42a229c360a0-2018-01-05T170000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3735 MONDO:0700096 No evidence available 0 true NCBIGene:283120 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:283120 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:81607 biolink:gene_associated_with_condition MONDO:0024565 infores:ubergraph knowledge_assertion manual_agent HGNC:19688 MONDO:0024565 NCBIGene:3098 biolink:gene_associated_with_condition MONDO:0009340 infores:ubergraph knowledge_assertion manual_agent HGNC:4922 MONDO:0009340 NCBIGene:79152 biolink:gene_associated_with_condition MONDO:0012866 infores:clingen NCBIGene:79152 MONDO:0012866 Definitive 2025-01-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5cb819a-ac27-4e87-9db3-6997c476d871-2025-01-27T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9020 biolink:gene_associated_with_condition MONDO:0018642 infores:clingen HGNC:6853 MONDO:0018642 Moderate 2025-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3952c8fc-29f9-4c29-be1d-258bb2cd90fc-2025-07-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23233 biolink:gene_associated_with_condition MONDO:0032724 infores:clingen HGNC:17085 MONDO:0032724 Definitive 2025-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_162103c3-57c8-428c-8b31-4befec82aa4c-2025-07-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2475 biolink:gene_associated_with_condition MONDO:0100572 infores:ubergraph knowledge_assertion manual_agent HGNC:3942 MONDO:0100572 NCBIGene:55553 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:16421 MONDO:0100038 Definitive 2024-09-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9a42d99-af9a-47d6-ab3c-e2d874f823f2-2024-09-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:91754 biolink:gene_associated_with_condition MONDO:0014873 infores:ubergraph knowledge_assertion manual_agent HGNC:18591 MONDO:0014873 NCBIGene:84433 biolink:gene_associated_with_condition MONDO:0054697 infores:ubergraph knowledge_assertion manual_agent HGNC:16393 MONDO:0054697 NCBIGene:6683 biolink:gene_associated_with_condition MONDO:0008438 infores:clingen NCBIGene:6683 MONDO:0008438 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54777 biolink:gene_associated_with_condition MONDO:1010146 infores:clingen HGNC:25247 MONDO:1010146 Limited 2025-10-16T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eabe809a-1203-4d42-9052-21f39717754f-2025-10-16T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:10216 biolink:gene_associated_with_condition MONDO:0008828 infores:ubergraph knowledge_assertion manual_agent HGNC:9364 MONDO:0008828 NCBIGene:71 biolink:gene_associated_with_condition MONDO:0013812 infores:clingen HGNC:144 MONDO:0013812 Definitive 2019-01-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9969a221-1ce9-44c6-8ab7-2ad5f7ccd5ab-2019-01-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:80781 biolink:gene_associated_with_condition MONDO:0800167 infores:clingen HGNC:2195 MONDO:0800167 Definitive 2023-02-28T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae24ab5e-a4a9-45eb-a52d-18e6dfebae53-2023-02-28T100000.000Z AR Autosomal Recessive 0000007 NCBIGene:5318 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:9024 MONDO:0005021 Disputed 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a8e26ad-c4ce-48d7-acab-1198d3b12ce5-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9156 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:3511 MONDO:0005835 Refuted 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3981895c-65e4-4553-9e06-234162704eb4-2023-12-20T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:261734 biolink:gene_associated_with_condition MONDO:0011752 infores:ubergraph knowledge_assertion manual_agent HGNC:19104 MONDO:0011752 NCBIGene:1829 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1829 MONDO:0700096 No evidence available 0 true NCBIGene:9210 biolink:gene_associated_with_condition MONDO:0010349 infores:ubergraph knowledge_assertion manual_agent HGNC:1068 MONDO:0010349 NCBIGene:5582 biolink:gene_associated_with_condition MONDO:0011540 infores:ubergraph knowledge_assertion manual_agent HGNC:9402 MONDO:0011540 NCBIGene:8692 biolink:gene_associated_with_condition MONDO:0976127 infores:ubergraph knowledge_assertion manual_agent HGNC:5321 MONDO:0976127 NCBIGene:29895 biolink:gene_associated_with_condition MONDO:0030847 infores:ubergraph knowledge_assertion manual_agent HGNC:29824 MONDO:0030847 NCBIGene:163786 biolink:gene_associated_with_condition MONDO:0014623 infores:ubergraph knowledge_assertion manual_agent HGNC:25403 MONDO:0014623 NCBIGene:2253 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3686 MONDO:0005453 Moderate 2024-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcfc7314-105a-428b-b4a0-0a0da4702192-2024-05-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9837 biolink:gene_associated_with_condition MONDO:0044725 infores:ubergraph knowledge_assertion manual_agent HGNC:28980 MONDO:0044725 NCBIGene:953 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:3363 MONDO:0015150 Definitive 2023-05-06T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8634ea9c-3fce-4d72-94e9-2ac6756e5cb6-2023-05-06T023000.000Z AR Autosomal Recessive 0000007 NCBIGene:4729 biolink:gene_associated_with_condition MONDO:0032612 infores:ubergraph knowledge_assertion manual_agent HGNC:7717 MONDO:0032612 NCBIGene:129880 biolink:gene_associated_with_condition MONDO:1040047 infores:ubergraph knowledge_assertion manual_agent HGNC:970 MONDO:1040047 NCBIGene:80204 biolink:gene_associated_with_condition MONDO:0060760 infores:ubergraph knowledge_assertion manual_agent HGNC:13590 MONDO:0060760 NCBIGene:27235 biolink:gene_associated_with_condition MONDO:0011829 infores:ubergraph knowledge_assertion manual_agent HGNC:25223 MONDO:0011829 NCBIGene:6240 biolink:gene_associated_with_condition MONDO:0957993 infores:ubergraph knowledge_assertion manual_agent HGNC:10451 MONDO:0957993 NCBIGene:4849 biolink:gene_associated_with_condition MONDO:0032864 infores:ubergraph knowledge_assertion manual_agent HGNC:7879 MONDO:0032864 NCBIGene:112 biolink:gene_associated_with_condition MONDO:0014570 infores:ubergraph knowledge_assertion manual_agent HGNC:237 MONDO:0014570 NCBIGene:55670 biolink:gene_associated_with_condition MONDO:0100271 infores:ubergraph knowledge_assertion manual_agent HGNC:22965 MONDO:0100271 NCBIGene:57152 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57152 MONDO:0700096 No evidence available 0 true NCBIGene:4125 biolink:gene_associated_with_condition MONDO:0009561 infores:ubergraph knowledge_assertion manual_agent HGNC:6826 MONDO:0009561 NCBIGene:284382 biolink:gene_associated_with_condition MONDO:0030989 infores:ubergraph knowledge_assertion manual_agent HGNC:28494 MONDO:0030989 NCBIGene:10483 biolink:gene_associated_with_condition MONDO:0009134 infores:clingen NCBIGene:10483 MONDO:0009134 Definitive 2024-11-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6093e90-7ec2-4cdb-9323-b67df78930a3-2024-11-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:60561 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:21876 MONDO:0016248 No Known Disease Relationship 2016-09-14T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8703 AD Autosomal Dominant 0000006 NCBIGene:359948 biolink:gene_associated_with_condition MONDO:0054691 infores:clingen HGNC:21729 MONDO:0054691 Limited 2021-03-16T12:54:03.252Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_025487e5-9447-4c7b-88ad-f650103e09cf-2021-03-16T125403.252Z AD Autosomal Dominant 0000006 NCBIGene:23417 biolink:gene_associated_with_condition MONDO:0009556 infores:clingen NCBIGene:23417 MONDO:0009556 Definitive 2018-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70af8ffa-430b-4c69-bfa9-d6ba2f7b4f32-2018-06-26T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:60676 biolink:gene_associated_with_condition MONDO:0859182 infores:ubergraph knowledge_assertion manual_agent HGNC:14615 MONDO:0859182 NCBIGene:85452 biolink:gene_associated_with_condition MONDO:0859353 infores:ubergraph knowledge_assertion manual_agent HGNC:29368 MONDO:0859353 NCBIGene:201134 biolink:gene_associated_with_condition MONDO:0033622 infores:ubergraph knowledge_assertion manual_agent HGNC:28514 MONDO:0033622 NCBIGene:10020 biolink:gene_associated_with_condition MONDO:0010028 infores:ubergraph knowledge_assertion manual_agent HGNC:23657 MONDO:0010028 NCBIGene:5892 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen NCBIGene:5892 MONDO:0016248 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6597 biolink:gene_associated_with_condition MONDO:0013224 infores:ubergraph knowledge_assertion manual_agent HGNC:11100 MONDO:0013224 NCBIGene:91647 biolink:gene_associated_with_condition MONDO:0011421 infores:ubergraph knowledge_assertion manual_agent HGNC:18802 MONDO:0011421 NCBIGene:2627 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2627 MONDO:0700096 No evidence available 0 true NCBIGene:23370 biolink:gene_associated_with_condition MONDO:0044314 infores:ubergraph knowledge_assertion manual_agent HGNC:17090 MONDO:0044314 NCBIGene:22941 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:22941 MONDO:0100038 Definitive 2019-07-17T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_911cb9ff-e68e-4b47-8639-f6a63ab11b3e-2019-07-17T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57222 biolink:gene_associated_with_condition MONDO:0008823 infores:ubergraph knowledge_assertion manual_agent HGNC:29205 MONDO:0008823 NCBIGene:57215 biolink:gene_associated_with_condition MONDO:0975800 infores:ubergraph knowledge_assertion manual_agent HGNC:23194 MONDO:0975800 NCBIGene:115650 biolink:gene_associated_with_condition MONDO:0013284 infores:ubergraph knowledge_assertion manual_agent HGNC:17755 MONDO:0013284 NCBIGene:54967 biolink:gene_associated_with_condition MONDO:0957202 infores:ubergraph knowledge_assertion manual_agent HGNC:26047 MONDO:0957202 NCBIGene:3549 biolink:gene_associated_with_condition MONDO:0007215 infores:ubergraph knowledge_assertion manual_agent HGNC:5956 MONDO:0007215 NCBIGene:2626 biolink:gene_associated_with_condition MONDO:0011938 infores:clingen NCBIGene:2626 MONDO:0011938 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5318 biolink:gene_associated_with_condition MONDO:0012180 infores:ubergraph knowledge_assertion manual_agent HGNC:9024 MONDO:0012180 NCBIGene:2335 biolink:gene_associated_with_condition MONDO:0011165 infores:clingen HGNC:3778 MONDO:0011165 Moderate 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ffbb09f-bf2d-4d76-9176-4961ce8862e9-2023-10-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1756 biolink:gene_associated_with_condition MONDO:0010542 infores:ubergraph knowledge_assertion manual_agent HGNC:2928 MONDO:0010542 NCBIGene:50964 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:50964 MONDO:0700096 No evidence available 0 true NCBIGene:254428 biolink:gene_associated_with_condition MONDO:0005240 infores:clingen HGNC:19429 MONDO:0005240 Limited 2022-05-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1a853a0-854a-4b61-8b12-eaf8edeabee7-2022-05-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3756 biolink:gene_associated_with_condition MONDO:0100485 infores:clingen NCBIGene:3756 MONDO:0100485 Definitive 2022-04-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b090a30-6065-4337-b930-d40585b142cd-2022-04-05T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:5723 biolink:gene_associated_with_condition MONDO:0018162 infores:clingen HGNC:9577 MONDO:0018162 Moderate 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa832956-c4e9-4620-a2e7-3d6d6e9eea8c-2024-12-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79876 biolink:gene_associated_with_condition MONDO:0014933 infores:ubergraph knowledge_assertion manual_agent HGNC:23230 MONDO:0014933 NCBIGene:1297 biolink:gene_associated_with_condition MONDO:0013590 infores:clingen HGNC:2217 MONDO:0013590 Definitive 2025-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bf2ef93-7886-464c-b177-4ed189c935ff-2025-10-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2706 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:4338 biolink:gene_associated_with_condition MONDO:0009644 infores:clingen NCBIGene:4338 MONDO:0009644 Definitive 2022-12-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd8d7002-1f0a-4fa7-9311-9d63b31b0125-2022-12-09T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3659 biolink:gene_associated_with_condition MONDO:0958011 infores:ubergraph knowledge_assertion manual_agent HGNC:6116 MONDO:0958011 NCBIGene:5456 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5456 MONDO:0700096 No evidence available 0 true NCBIGene:767 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:767 MONDO:0700096 No evidence available 0 true NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:4274 MONDO:0019497 Disputed 2022-03-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e428d8c-42a2-430b-babd-8beceb26197e-2022-03-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51057 biolink:gene_associated_with_condition MONDO:0009008 infores:clingen NCBIGene:51057 MONDO:0009008 Gene associated with autosomal recessive phenotype 30 NCBIGene:54507 biolink:gene_associated_with_condition MONDO:0009152 infores:ubergraph knowledge_assertion manual_agent HGNC:19706 MONDO:0009152 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0018023 infores:clingen HGNC:4827 MONDO:0018023 Definitive 2024-03-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1165f12f-3e9d-41c6-b7c4-1a52037cf017-2024-03-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7134 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:11943 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ad71467-74c0-4a7c-932d-c5ca5747e59e-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7056 biolink:gene_associated_with_condition MONDO:0016244 infores:clingen HGNC:11784 MONDO:0016244 Disputed 2024-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_867df2fb-b300-4f48-8be0-e600bee48bdd-2024-06-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:190 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:190 MONDO:0700096 No evidence available 0 true NCBIGene:22861 biolink:gene_associated_with_condition MONDO:0014089 infores:ubergraph knowledge_assertion manual_agent HGNC:14374 MONDO:0014089 NCBIGene:60529 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:60529 MONDO:0700096 No evidence available 0 true NCBIGene:84705 biolink:gene_associated_with_condition MONDO:0014525 infores:ubergraph knowledge_assertion manual_agent HGNC:14880 MONDO:0014525 NCBIGene:8799 biolink:gene_associated_with_condition MONDO:0013967 infores:clingen NCBIGene:8799 MONDO:0013967 Gene associated with autosomal recessive phenotype 30 NCBIGene:79648 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:6954 MONDO:0016248 No Known Disease Relationship 2017-01-11T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8525 AD Autosomal Dominant 0000006 NCBIGene:83452 biolink:gene_associated_with_condition MONDO:0014087 infores:ubergraph knowledge_assertion manual_agent HGNC:16075 MONDO:0014087 NCBIGene:78987 biolink:gene_associated_with_condition MONDO:0011650 infores:ubergraph knowledge_assertion manual_agent HGNC:14630 MONDO:0011650 NCBIGene:10841 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10841 MONDO:0700096 No evidence available 0 true NCBIGene:7879 biolink:gene_associated_with_condition MONDO:0010949 infores:ubergraph knowledge_assertion manual_agent HGNC:9788 MONDO:0010949 NCBIGene:1834 biolink:gene_associated_with_condition MONDO:0007441 infores:ubergraph knowledge_assertion manual_agent HGNC:3054 MONDO:0007441 NCBIGene:5269 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:8950 MONDO:0019497 Moderate 2022-11-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b84c49a8-3b02-4e07-a0c7-80394c0cf991-2022-11-22T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5428 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:9179 MONDO:0009723 Limited 2021-06-30T14:49:55.983Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1212393e-b517-4430-a8d7-df7e32295aff-2021-06-30T144955.983Z AR Autosomal Recessive 0000007 NCBIGene:161497 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:16035 MONDO:0019497 Definitive 2017-12-19T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_977b98b7-00f4-4200-9b17-f37303889ab4-2017-12-19T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:669 biolink:gene_associated_with_condition MONDO:0009113 infores:ubergraph knowledge_assertion manual_agent HGNC:1093 MONDO:0009113 NCBIGene:5913 biolink:gene_associated_with_condition MONDO:0100102 infores:ubergraph knowledge_assertion manual_agent HGNC:9863 MONDO:0100102 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0010268 infores:ubergraph knowledge_assertion manual_agent HGNC:18060 MONDO:0010268 NCBIGene:10804 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10804 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:25959 biolink:gene_associated_with_condition MONDO:0033280 infores:ubergraph knowledge_assertion manual_agent HGNC:29300 MONDO:0033280 NCBIGene:29880 biolink:gene_associated_with_condition MONDO:0031062 infores:ubergraph knowledge_assertion manual_agent HGNC:20266 MONDO:0031062 NCBIGene:1285 biolink:gene_associated_with_condition MONDO:0958186 infores:ubergraph knowledge_assertion manual_agent HGNC:2204 MONDO:0958186 NCBIGene:4719 biolink:gene_associated_with_condition MONDO:0032610 infores:ubergraph knowledge_assertion manual_agent HGNC:7707 MONDO:0032610 NCBIGene:23363 biolink:gene_associated_with_condition MONDO:0013039 infores:clingen NCBIGene:23363 MONDO:0013039 Gene associated with autosomal recessive phenotype 30 NCBIGene:2984 biolink:gene_associated_with_condition MONDO:0013843 infores:ubergraph knowledge_assertion manual_agent HGNC:4688 MONDO:0013843 NCBIGene:585 biolink:gene_associated_with_condition MONDO:1040044 infores:clingen HGNC:969 MONDO:1040044 Definitive 2023-12-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_988d537d-5595-4b8f-bbc4-8e3aefc025fa-2023-12-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4683 biolink:gene_associated_with_condition MONDO:0009623 infores:ubergraph knowledge_assertion manual_agent HGNC:7652 MONDO:0009623 NCBIGene:10459 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10459 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:81027 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:81027 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:1861 biolink:gene_associated_with_condition MONDO:0007492 infores:ubergraph knowledge_assertion manual_agent HGNC:3098 MONDO:0007492 NCBIGene:51095 biolink:gene_associated_with_condition MONDO:0014487 infores:ubergraph knowledge_assertion manual_agent HGNC:17341 MONDO:0014487 NCBIGene:2956 biolink:gene_associated_with_condition MONDO:0010159 infores:clingen HGNC:7329 MONDO:0010159 Definitive 2018-10-09T14:57:26.378Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7d02927-ac93-4a43-a86d-01cd381f4e9f-2018-10-09T145726.378Z AR Autosomal Recessive 0000007 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0007240 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0007240 NCBIGene:3040 biolink:gene_associated_with_condition MONDO:0054802 infores:clingen HGNC:4824 MONDO:0054802 Limited 2023-10-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cd38d93-3dc1-429c-8f82-2269647f6bb5-2023-10-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10083 biolink:gene_associated_with_condition MONDO:0010171 infores:ubergraph knowledge_assertion manual_agent HGNC:12597 MONDO:0010171 NCBIGene:8991 biolink:gene_associated_with_condition MONDO:0029144 infores:clingen HGNC:10719 MONDO:0029144 Moderate 2025-01-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcd063e5-93af-47d2-a59d-3fef995df556-2025-01-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:91574 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:26784 MONDO:0044970 Definitive 2024-05-23T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27e53978-d972-44e0-8605-0b2c9e35eb51-2024-05-23T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:50814 biolink:gene_associated_with_condition MONDO:0010441 infores:ubergraph knowledge_assertion manual_agent HGNC:13398 MONDO:0010441 NCBIGene:28956 biolink:gene_associated_with_condition MONDO:0012559 infores:ubergraph knowledge_assertion manual_agent HGNC:29796 MONDO:0012559 NCBIGene:212 biolink:gene_associated_with_condition MONDO:0010420 infores:ubergraph knowledge_assertion manual_agent HGNC:397 MONDO:0010420 NCBIGene:9526 biolink:gene_associated_with_condition MONDO:0012211 infores:clingen HGNC:7207 MONDO:0012211 Definitive 2025-07-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d202368-a518-4c8c-81a3-1462d8fd18e6-2025-07-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55275 biolink:gene_associated_with_condition MONDO:0014370 infores:clingen NCBIGene:55275 MONDO:0014370 Gene associated with autosomal recessive phenotype 30 NCBIGene:9871 biolink:gene_associated_with_condition MONDO:0014573 infores:ubergraph knowledge_assertion manual_agent HGNC:10706 MONDO:0014573 NCBIGene:54809 biolink:gene_associated_with_condition MONDO:0012502 infores:clingen NCBIGene:54809 MONDO:0012502 Limited 2025-02-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac34dc9-b3df-4ac7-83e1-af4e4fcee384-2025-02-11T170000.000Z AR Autosomal Recessive 0000007 true No evidence available 0 NCBIGene:197258 biolink:gene_associated_with_condition MONDO:0020777 infores:ubergraph knowledge_assertion manual_agent HGNC:29500 MONDO:0020777 NCBIGene:3955 biolink:gene_associated_with_condition MONDO:0012349 infores:ubergraph knowledge_assertion manual_agent HGNC:6560 MONDO:0012349 NCBIGene:7084 biolink:gene_associated_with_condition MONDO:0012301 infores:ubergraph knowledge_assertion manual_agent HGNC:11831 MONDO:0012301 NCBIGene:145270 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:18319 MONDO:0005027 Limited 2025-01-07T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2247fe32-492c-4a1b-8e1c-5ee13bae944a-2025-01-07T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:23005 biolink:gene_associated_with_condition MONDO:0014997 infores:clingen NCBIGene:23005 MONDO:0014997 Definitive 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8542450-d48b-45ba-bd5f-4e55d210aa6b-2024-06-10T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:29760 biolink:gene_associated_with_condition MONDO:0013289 infores:clingen NCBIGene:29760 MONDO:0013289 Definitive 2021-03-16T13:27:48.373Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e1d2e1b-52a6-4371-9055-0e1cc74da39d-2021-03-16T132748.373Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10939 biolink:gene_associated_with_condition MONDO:0012450 infores:ubergraph knowledge_assertion manual_agent HGNC:315 MONDO:0012450 NCBIGene:123169 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:123169 MONDO:0700096 No evidence available 0 true NCBIGene:1299 biolink:gene_associated_with_condition MONDO:0010964 infores:ubergraph knowledge_assertion manual_agent HGNC:2219 MONDO:0010964 NCBIGene:6017 biolink:gene_associated_with_condition MONDO:0100444 infores:ubergraph knowledge_assertion manual_agent HGNC:10024 MONDO:0100444 NCBIGene:2033 biolink:gene_associated_with_condition MONDO:0020769 infores:ubergraph knowledge_assertion manual_agent HGNC:3373 MONDO:0020769 NCBIGene:1585 biolink:gene_associated_with_condition MONDO:0035320 infores:ubergraph knowledge_assertion manual_agent HGNC:2592 MONDO:0035320 NCBIGene:84947 biolink:gene_associated_with_condition MONDO:0100548 infores:ubergraph knowledge_assertion manual_agent HGNC:21061 MONDO:0100548 NCBIGene:79751 biolink:gene_associated_with_condition MONDO:0012245 infores:ubergraph knowledge_assertion manual_agent HGNC:19954 MONDO:0012245 NCBIGene:5145 biolink:gene_associated_with_condition MONDO:0700224 infores:ubergraph knowledge_assertion manual_agent HGNC:8785 MONDO:0700224 NCBIGene:1438 biolink:gene_associated_with_condition MONDO:0010424 infores:clingen HGNC:2435 MONDO:0010424 Definitive 2025-09-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6037e055-90a1-4727-be41-fa3295982b12-2025-09-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23619 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23619 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9241 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9241 MONDO:0700096 No evidence available 0 true NCBIGene:125988 biolink:gene_associated_with_condition MONDO:0032679 infores:ubergraph knowledge_assertion manual_agent HGNC:33702 MONDO:0032679 NCBIGene:6295 biolink:gene_associated_with_condition MONDO:0859367 infores:ubergraph knowledge_assertion manual_agent HGNC:10521 MONDO:0859367 NCBIGene:9927 biolink:gene_associated_with_condition MONDO:0012231 infores:ubergraph knowledge_assertion manual_agent HGNC:16877 MONDO:0012231 NCBIGene:713 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:713 MONDO:0700096 No evidence available 0 true NCBIGene:79147 biolink:gene_associated_with_condition MONDO:0700066 infores:ubergraph knowledge_assertion manual_agent HGNC:17997 MONDO:0700066 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0700273 infores:ubergraph knowledge_assertion manual_agent HGNC:9820 MONDO:0700273 NCBIGene:7112 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:11875 MONDO:0005045 Limited 2023-04-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1e1bb21-c617-4aac-b9d8-1c2054d76c55-2023-04-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:27068 biolink:gene_associated_with_condition MONDO:0014974 infores:ubergraph knowledge_assertion manual_agent HGNC:28883 MONDO:0014974 NCBIGene:9758 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:29007 MONDO:0100148 Definitive 2022-11-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdc39072-6ab1-4ec6-af69-ce7a2f874f1b-2022-11-02T160000.000Z XL X-linked 0001417 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0010983 infores:ubergraph knowledge_assertion manual_agent HGNC:11005 MONDO:0010983 NCBIGene:2593 biolink:gene_associated_with_condition MONDO:0012999 infores:ubergraph knowledge_assertion manual_agent HGNC:4136 MONDO:0012999 NCBIGene:222546 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:222546 MONDO:0700096 No evidence available 0 true NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:7989 MONDO:0015280 Limited 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d466df2a-8e3d-4d4a-bb96-8e483d4c56e7-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6440 biolink:gene_associated_with_condition MONDO:0018603 infores:clingen HGNC:10802 MONDO:0018603 Definitive 2024-07-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1e252c5-e5d1-478a-ae5f-35ad591939e5-2024-07-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10559 biolink:gene_associated_with_condition MONDO:0011342 infores:ubergraph knowledge_assertion manual_agent HGNC:11021 MONDO:0011342 NCBIGene:139411 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:26392 MONDO:0019181 Definitive 2018-08-14T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05d36fe2-0026-4bbc-af4b-6d952490969b-2018-08-14T220000.000Z XL X-linked 0001417 NCBIGene:1021 biolink:gene_associated_with_condition MONDO:0014484 infores:ubergraph knowledge_assertion manual_agent HGNC:1777 MONDO:0014484 NCBIGene:4913 biolink:gene_associated_with_condition MONDO:0100502 infores:clingen HGNC:8028 MONDO:0100502 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a612b05-25f2-4e60-90a5-70ad6363c1fc-2022-12-30T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:9126 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:9126 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:4621 biolink:gene_associated_with_condition MONDO:0020746 infores:ubergraph knowledge_assertion manual_agent HGNC:7573 MONDO:0020746 NCBIGene:9779 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9779 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:90411 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:90411 MONDO:0700096 No evidence available 0 true NCBIGene:1297 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1297 MONDO:0700096 No evidence available 0 true NCBIGene:29954 biolink:gene_associated_with_condition MONDO:0018276 infores:clingen NCBIGene:29954 MONDO:0018276 Gene associated with autosomal recessive phenotype 30 NCBIGene:338917 biolink:gene_associated_with_condition MONDO:0012409 infores:ubergraph knowledge_assertion manual_agent HGNC:1975 MONDO:0012409 NCBIGene:1742 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1742 MONDO:0700096 No evidence available 0 true NCBIGene:9841 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9841 MONDO:0700096 No evidence available 0 true NCBIGene:57187 biolink:gene_associated_with_condition MONDO:0010496 infores:ubergraph knowledge_assertion manual_agent HGNC:19073 MONDO:0010496 NCBIGene:4438 biolink:gene_associated_with_condition MONDO:0030975 infores:ubergraph knowledge_assertion manual_agent HGNC:7327 MONDO:0030975 NCBIGene:27022 biolink:gene_associated_with_condition MONDO:0011919 infores:ubergraph knowledge_assertion manual_agent HGNC:3804 MONDO:0011919 NCBIGene:7390 biolink:gene_associated_with_condition MONDO:0009902 infores:ubergraph knowledge_assertion manual_agent HGNC:12592 MONDO:0009902 NCBIGene:27125 biolink:gene_associated_with_condition MONDO:0014609 infores:ubergraph knowledge_assertion manual_agent HGNC:17869 MONDO:0014609 NCBIGene:2255 biolink:gene_associated_with_condition MONDO:0007872 infores:clingen NCBIGene:2255 MONDO:0007872 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1073 biolink:gene_associated_with_condition MONDO:0012538 infores:clingen NCBIGene:1073 MONDO:0012538 Definitive 2019-11-25T15:01:39.061Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c04b972-6797-42e7-87e8-ee97eb0bbad7-2019-11-25T150139.061Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:340533 biolink:gene_associated_with_condition MONDO:0010483 infores:ubergraph knowledge_assertion manual_agent HGNC:29433 MONDO:0010483 NCBIGene:1410 biolink:gene_associated_with_condition MONDO:0014073 infores:ubergraph knowledge_assertion manual_agent HGNC:2389 MONDO:0014073 NCBIGene:7068 biolink:gene_associated_with_condition MONDO:0010131 infores:ubergraph knowledge_assertion manual_agent HGNC:11799 MONDO:0010131 NCBIGene:1776 biolink:gene_associated_with_condition MONDO:0013743 infores:clingen HGNC:2959 MONDO:0013743 Definitive 2024-05-08T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77450e46-30fa-4be0-aa0e-4e31f04a117e-2024-05-08T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0007962 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0007962 NCBIGene:7552 biolink:gene_associated_with_condition MONDO:0010430 infores:clingen NCBIGene:7552 MONDO:0010430 true Little evidence for dosage pathogenicity 1 NCBIGene:79135 biolink:gene_associated_with_condition MONDO:0100138 infores:ubergraph knowledge_assertion manual_agent HGNC:28727 MONDO:0100138 NCBIGene:64332 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:29805 MONDO:0018630 Limited 2017-07-10T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9867 AD Autosomal Dominant 0000006 NCBIGene:23314 biolink:gene_associated_with_condition MONDO:0100147 infores:ubergraph knowledge_assertion manual_agent HGNC:21637 MONDO:0100147 NCBIGene:10483 biolink:gene_associated_with_condition MONDO:0014802 infores:ubergraph knowledge_assertion manual_agent HGNC:10702 MONDO:0014802 NCBIGene:200205 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:27302 MONDO:0044970 Definitive 2023-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a005d270-eb33-4843-9ea8-2ee58f443437-2023-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:54870 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54870 MONDO:0700096 No evidence available 0 true NCBIGene:22808 biolink:gene_associated_with_condition MONDO:0032786 infores:ubergraph knowledge_assertion manual_agent HGNC:7227 MONDO:0032786 NCBIGene:37 biolink:gene_associated_with_condition MONDO:0008723 infores:clingen NCBIGene:37 MONDO:0008723 Definitive 2018-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_130ca053-9f40-4fd5-b89c-b9b374694fda-2018-02-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23522 biolink:gene_associated_with_condition MONDO:0011640 infores:ubergraph knowledge_assertion manual_agent HGNC:17582 MONDO:0011640 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0007365 infores:clingen NCBIGene:3785 MONDO:0007365 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79633 biolink:gene_associated_with_condition MONDO:0014242 infores:ubergraph knowledge_assertion manual_agent HGNC:23109 MONDO:0014242 NCBIGene:6253 biolink:gene_associated_with_condition MONDO:0011489 infores:ubergraph knowledge_assertion manual_agent HGNC:10468 MONDO:0011489 NCBIGene:9085 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9085 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2068 biolink:gene_associated_with_condition MONDO:0010212 infores:clingen NCBIGene:2068 MONDO:0010212 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d0c244-d958-4358-8b92-cefefbce3843-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:54806 biolink:gene_associated_with_condition MONDO:0012078 infores:ubergraph knowledge_assertion manual_agent HGNC:21575 MONDO:0012078 NCBIGene:653361 biolink:gene_associated_with_condition MONDO:0009309 infores:clingen NCBIGene:653361 MONDO:0009309 Gene associated with autosomal recessive phenotype 30 NCBIGene:4194 biolink:gene_associated_with_condition MONDO:0030015 infores:clingen HGNC:6974 MONDO:0030015 Moderate 2024-12-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c4e0701-22d0-4e73-bf76-a23e9472fe3d-2024-12-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:81846 biolink:gene_associated_with_condition MONDO:0011475 infores:ubergraph knowledge_assertion manual_agent HGNC:2135 MONDO:0011475 NCBIGene:10695 biolink:gene_associated_with_condition MONDO:0033369 infores:ubergraph knowledge_assertion manual_agent HGNC:11968 MONDO:0033369 NCBIGene:3932 biolink:gene_associated_with_condition MONDO:0014334 infores:ubergraph knowledge_assertion manual_agent HGNC:6524 MONDO:0014334 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0013919 infores:ubergraph knowledge_assertion manual_agent HGNC:11005 MONDO:0013919 NCBIGene:11113 biolink:gene_associated_with_condition MONDO:0014908 infores:ubergraph knowledge_assertion manual_agent HGNC:1985 MONDO:0014908 NCBIGene:55180 biolink:gene_associated_with_condition MONDO:0013702 infores:clingen NCBIGene:55180 MONDO:0013702 Gene associated with autosomal recessive phenotype 30 NCBIGene:28952 biolink:gene_associated_with_condition MONDO:0010499 infores:ubergraph knowledge_assertion manual_agent HGNC:28909 MONDO:0010499 NCBIGene:10075 biolink:gene_associated_with_condition MONDO:0010407 infores:clingen NCBIGene:10075 MONDO:0010407 No evidence available 0 true No evidence available 0 NCBIGene:3747 biolink:gene_associated_with_condition MONDO:0030957 infores:ubergraph knowledge_assertion manual_agent HGNC:6234 MONDO:0030957 NCBIGene:93166 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:93166 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2182 biolink:gene_associated_with_condition MONDO:0010313 infores:clingen NCBIGene:2182 MONDO:0010313 true Little evidence for dosage pathogenicity 1 NCBIGene:25923 biolink:gene_associated_with_condition MONDO:0014286 infores:ubergraph knowledge_assertion manual_agent HGNC:24526 MONDO:0014286 NCBIGene:64127 biolink:gene_associated_with_condition MONDO:0008523 infores:clingen HGNC:5331 MONDO:0008523 Definitive 2020-10-07T17:18:07.983Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fd650d7-6a84-4b33-b86e-d34cab5b7d57-2020-10-07T171807.983Z AD Autosomal Dominant 0000006 NCBIGene:58 biolink:gene_associated_with_condition MONDO:0859517 infores:ubergraph knowledge_assertion manual_agent HGNC:129 MONDO:0859517 NCBIGene:146059 biolink:gene_associated_with_condition MONDO:0009135 infores:ubergraph knowledge_assertion manual_agent HGNC:1713 MONDO:0009135 NCBIGene:1161 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1161 MONDO:0700096 No evidence available 0 true NCBIGene:340665 biolink:gene_associated_with_condition MONDO:0013997 infores:ubergraph knowledge_assertion manual_agent HGNC:20577 MONDO:0013997 NCBIGene:283310 biolink:gene_associated_with_condition MONDO:0013984 infores:ubergraph knowledge_assertion manual_agent HGNC:26901 MONDO:0013984 NCBIGene:6712 biolink:gene_associated_with_condition MONDO:0010848 infores:clingen HGNC:11276 MONDO:0010848 Definitive 2025-09-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_634f17d6-d189-4141-a57f-998639db0a4f-2025-09-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:116986 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:116986 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1410 biolink:gene_associated_with_condition MONDO:0012130 infores:ubergraph knowledge_assertion manual_agent HGNC:2389 MONDO:0012130 NCBIGene:2707 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:4285 MONDO:0019497 Disputed 2018-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f83e013a-685f-405b-89d6-a8e80aefaf6e-2018-02-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:165829 biolink:gene_associated_with_condition MONDO:0957825 infores:ubergraph knowledge_assertion manual_agent HGNC:20844 MONDO:0957825 NCBIGene:5621 biolink:gene_associated_with_condition MONDO:0011703 infores:ubergraph knowledge_assertion manual_agent HGNC:9449 MONDO:0011703 NCBIGene:219844 biolink:gene_associated_with_condition MONDO:0006037 infores:clingen HGNC:26558 MONDO:0006037 Moderate 2025-08-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1be90c8e-071c-443b-9f30-807b6f3b71ce-2025-08-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:25953 biolink:gene_associated_with_condition MONDO:0700089 infores:ubergraph knowledge_assertion manual_agent HGNC:9153 MONDO:0700089 NCBIGene:8905 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8905 MONDO:0700096 No evidence available 0 true NCBIGene:10083 biolink:gene_associated_with_condition MONDO:0010168 infores:clingen HGNC:12597 MONDO:0010168 Definitive 2017-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5664 AR Autosomal Recessive 0000007 NCBIGene:5518 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:9302 MONDO:0100038 Definitive 2022-11-16T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aae8155-7cb1-44ee-9cee-17bb22e6a0ad-2022-11-16T110000.000Z AD Autosomal Dominant 0000006 NCBIGene:6392 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen NCBIGene:6392 MONDO:0017366 Definitive 2021-06-17T01:53:16.638Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d0b732e-81e4-4834-8fe6-fe71f694399e-2021-06-17T015316.638Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:64327 biolink:gene_associated_with_condition MONDO:0008700 infores:ubergraph knowledge_assertion manual_agent HGNC:13243 MONDO:0008700 NCBIGene:127833 biolink:gene_associated_with_condition MONDO:0014468 infores:ubergraph knowledge_assertion manual_agent HGNC:11510 MONDO:0014468 NCBIGene:50615 biolink:gene_associated_with_condition MONDO:0021094 infores:clingen HGNC:6006 MONDO:0021094 Definitive 2022-12-31T12:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dbeac16-997c-43c0-9fb6-eaa98d0816f9-2022-12-31T120000.000Z AR Autosomal Recessive 0000007 NCBIGene:1185 biolink:gene_associated_with_condition MONDO:0030947 infores:clingen HGNC:2024 MONDO:0030947 Moderate 2024-06-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6226904f-234f-490b-8353-7d6c63bd8724-2024-06-07T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:347686 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:347686 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:103 biolink:gene_associated_with_condition MONDO:0700261 infores:clingen HGNC:225 MONDO:0700261 Definitive 2024-10-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cf90ec8-f2fd-4b93-89ca-d20e628a6109-2024-10-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7138 biolink:gene_associated_with_condition MONDO:0018958 infores:clingen HGNC:11948 MONDO:0018958 Limited 2025-03-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5e1f9d1-b21e-46f6-94ce-10cb551ea92a-2025-03-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8243 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8243 MONDO:0700096 No evidence available 0 true NCBIGene:476 biolink:gene_associated_with_condition MONDO:0054833 infores:clingen HGNC:799 MONDO:0054833 Moderate 2022-10-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65182954-6603-4880-85fa-352700bd784b-2022-10-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54084 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:1268 MONDO:0019497 Disputed 2024-10-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0928b06-d3bb-41fe-8222-d7f0e6c0a25a-2024-10-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1311 biolink:gene_associated_with_condition MONDO:0030883 infores:ubergraph knowledge_assertion manual_agent HGNC:2227 MONDO:0030883 NCBIGene:2072 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2072 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:727857 biolink:gene_associated_with_condition MONDO:0012271 infores:ubergraph knowledge_assertion manual_agent HGNC:35126 MONDO:0012271 NCBIGene:9231 biolink:gene_associated_with_condition MONDO:0958205 infores:ubergraph knowledge_assertion manual_agent HGNC:2904 MONDO:0958205 NCBIGene:3814 biolink:gene_associated_with_condition MONDO:0013915 infores:clingen NCBIGene:3814 MONDO:0013915 Gene associated with autosomal recessive phenotype 30 NCBIGene:8573 biolink:gene_associated_with_condition MONDO:0010318 infores:ubergraph knowledge_assertion manual_agent HGNC:1497 MONDO:0010318 NCBIGene:54919 biolink:gene_associated_with_condition MONDO:0013940 infores:ubergraph knowledge_assertion manual_agent HGNC:26013 MONDO:0013940 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0011852 infores:ubergraph knowledge_assertion manual_agent HGNC:2214 MONDO:0011852 NCBIGene:2775 biolink:gene_associated_with_condition MONDO:0005395 infores:clingen HGNC:4389 MONDO:0005395 Definitive 2019-02-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_418a5a18-3d0e-4cef-84b4-74c5accc0df1-2019-02-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7066 biolink:gene_associated_with_condition MONDO:0800451 infores:clingen HGNC:11795 MONDO:0800451 Definitive 2024-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cc3bbfe-9347-4514-916a-15b5db0129bb-2024-05-01T160000.000Z SD Semidominant 0032113 NCBIGene:6342 biolink:gene_associated_with_condition MONDO:0013391 infores:clingen HGNC:10606 MONDO:0013391 Definitive 2025-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea6abbdb-3724-4d1e-a31e-c61b0157a86a-2025-02-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3211 biolink:gene_associated_with_condition MONDO:0013880 infores:ubergraph knowledge_assertion manual_agent HGNC:5111 MONDO:0013880 NCBIGene:63894 biolink:gene_associated_with_condition MONDO:0013255 infores:ubergraph knowledge_assertion manual_agent HGNC:20347 MONDO:0013255 NCBIGene:5119 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5119 MONDO:0700096 No evidence available 0 true NCBIGene:2555 biolink:gene_associated_with_condition MONDO:0032812 infores:ubergraph knowledge_assertion manual_agent HGNC:4076 MONDO:0032812 NCBIGene:27077 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:24123 MONDO:0005308 Definitive 2023-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d682069-b65a-46d5-973a-6b43ba1a80e1-2023-05-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4536 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7456 MONDO:0009723 Limited 2021-04-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80f1dcc9-aaf3-45f7-987a-4e0d83140913-2021-04-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:3651 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3651 MONDO:0700096 No evidence available 0 true NCBIGene:50964 biolink:gene_associated_with_condition MONDO:0010016 infores:clingen NCBIGene:50964 MONDO:0010016 Gene associated with autosomal recessive phenotype 30 NCBIGene:1289 biolink:gene_associated_with_condition MONDO:0859151 infores:ubergraph knowledge_assertion manual_agent HGNC:2209 MONDO:0859151 NCBIGene:56154 biolink:gene_associated_with_condition MONDO:0054729 infores:ubergraph knowledge_assertion manual_agent HGNC:11738 MONDO:0054729 NCBIGene:93517 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:93517 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:284361 biolink:gene_associated_with_condition MONDO:0031011 infores:ubergraph knowledge_assertion manual_agent HGNC:27609 MONDO:0031011 NCBIGene:114548 biolink:gene_associated_with_condition MONDO:0008633 infores:ubergraph knowledge_assertion manual_agent HGNC:16400 MONDO:0008633 NCBIGene:54463 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54463 MONDO:0700096 No evidence available 0 true NCBIGene:1145 biolink:gene_associated_with_condition MONDO:1040021 infores:ubergraph knowledge_assertion manual_agent HGNC:1966 MONDO:1040021 NCBIGene:1499 biolink:gene_associated_with_condition MONDO:0007564 infores:ubergraph knowledge_assertion manual_agent HGNC:2514 MONDO:0007564 NCBIGene:7915 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7915 MONDO:0700096 No evidence available 0 true NCBIGene:118813 biolink:gene_associated_with_condition MONDO:0012448 infores:ubergraph knowledge_assertion manual_agent HGNC:26559 MONDO:0012448 NCBIGene:9719 biolink:gene_associated_with_condition MONDO:0009269 infores:ubergraph knowledge_assertion manual_agent HGNC:14631 MONDO:0009269 NCBIGene:2628 biolink:gene_associated_with_condition MONDO:0024525 infores:ubergraph knowledge_assertion manual_agent HGNC:4175 MONDO:0024525 NCBIGene:114803 biolink:gene_associated_with_condition MONDO:0020856 infores:ubergraph knowledge_assertion manual_agent HGNC:29401 MONDO:0020856 NCBIGene:1181 biolink:gene_associated_with_condition MONDO:0011576 infores:ubergraph knowledge_assertion manual_agent HGNC:2020 MONDO:0011576 NCBIGene:11154 biolink:gene_associated_with_condition MONDO:0100176 infores:clingen HGNC:575 MONDO:0100176 Definitive 2023-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652e2cbe-22aa-4cd4-ba41-5bacca69af13-2023-04-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:96459 biolink:gene_associated_with_condition MONDO:0030528 infores:ubergraph knowledge_assertion manual_agent HGNC:29418 MONDO:0030528 NCBIGene:7187 biolink:gene_associated_with_condition MONDO:0976228 infores:ubergraph knowledge_assertion manual_agent HGNC:12033 MONDO:0976228 NCBIGene:8443 biolink:gene_associated_with_condition MONDO:0009112 infores:clingen NCBIGene:8443 MONDO:0009112 Gene associated with autosomal recessive phenotype 30 NCBIGene:6569 biolink:gene_associated_with_condition MONDO:0014851 infores:ubergraph knowledge_assertion manual_agent HGNC:11019 MONDO:0014851 NCBIGene:54084 biolink:gene_associated_with_condition MONDO:0013929 infores:ubergraph knowledge_assertion manual_agent HGNC:1268 MONDO:0013929 NCBIGene:3192 biolink:gene_associated_with_condition MONDO:0033363 infores:ubergraph knowledge_assertion manual_agent HGNC:5048 MONDO:0033363 NCBIGene:54440 biolink:gene_associated_with_condition MONDO:0024781 infores:ubergraph knowledge_assertion manual_agent HGNC:15975 MONDO:0024781 NCBIGene:2898 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2898 MONDO:0700096 No evidence available 0 true NCBIGene:55243 biolink:gene_associated_with_condition MONDO:0030962 infores:ubergraph knowledge_assertion manual_agent HGNC:15734 MONDO:0030962 NCBIGene:129563 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:129563 MONDO:0700096 No evidence available 0 true NCBIGene:493856 biolink:gene_associated_with_condition MONDO:0018105 infores:clingen HGNC:24212 MONDO:0018105 Definitive 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a18d59c-c00c-4bb3-b6d6-1e59b92d1313-2023-06-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:164045 biolink:gene_associated_with_condition MONDO:0014322 infores:ubergraph knowledge_assertion manual_agent HGNC:20193 MONDO:0014322 NCBIGene:89839 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:89839 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0007893 infores:clingen HGNC:9644 MONDO:0007893 Definitive 2018-07-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6c41f3b-c2d1-4d66-a1a3-a5beaa304578-2018-07-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:287 biolink:gene_associated_with_condition MONDO:0010958 infores:ubergraph knowledge_assertion manual_agent HGNC:493 MONDO:0010958 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0008150 infores:ubergraph knowledge_assertion manual_agent HGNC:3688 MONDO:0008150 NCBIGene:65109 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:20439 MONDO:0100148 Definitive 2019-07-02T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1caf030-ef58-4f8f-ba40-aabbf81cf6b1-2019-07-02T220000.000Z XL X-linked 0001417 NCBIGene:10111 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10111 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:51099 biolink:gene_associated_with_condition MONDO:0010155 infores:ubergraph knowledge_assertion manual_agent HGNC:21396 MONDO:0010155 NCBIGene:2736 biolink:gene_associated_with_condition MONDO:0012563 infores:ubergraph knowledge_assertion manual_agent HGNC:4318 MONDO:0012563 NCBIGene:2735 biolink:gene_associated_with_condition MONDO:0029130 infores:ubergraph knowledge_assertion manual_agent HGNC:4317 MONDO:0029130 NCBIGene:55650 biolink:gene_associated_with_condition MONDO:0009398 infores:clingen HGNC:26031 MONDO:0009398 Moderate 2025-06-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba42b0b-dace-44ef-acf4-59350de2199e-2025-06-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4621 biolink:gene_associated_with_condition MONDO:0032751 infores:ubergraph knowledge_assertion manual_agent HGNC:7573 MONDO:0032751 NCBIGene:6101 biolink:gene_associated_with_condition MONDO:0800399 infores:ubergraph knowledge_assertion manual_agent HGNC:10263 MONDO:0800399 NCBIGene:23322 biolink:gene_associated_with_condition MONDO:0012695 infores:ubergraph knowledge_assertion manual_agent HGNC:29168 MONDO:0012695 NCBIGene:56098 biolink:gene_associated_with_condition MONDO:0859252 infores:ubergraph knowledge_assertion manual_agent HGNC:8717 MONDO:0859252 NCBIGene:1814 biolink:gene_associated_with_condition MONDO:0008590 infores:ubergraph knowledge_assertion manual_agent HGNC:3024 MONDO:0008590 NCBIGene:6223 biolink:gene_associated_with_condition MONDO:0015253 infores:clingen HGNC:10402 MONDO:0015253 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bceef5ee-7596-4a90-91ce-b36385f9669b-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23030 biolink:gene_associated_with_condition MONDO:0023657 infores:clingen HGNC:29136 MONDO:0023657 Strong 2024-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_703aa9ae-30ab-48c2-bb38-05be24558879-2024-11-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10730 biolink:gene_associated_with_condition MONDO:0015011 infores:ubergraph knowledge_assertion manual_agent HGNC:12843 MONDO:0015011 NCBIGene:92211 biolink:gene_associated_with_condition MONDO:0013348 infores:ubergraph knowledge_assertion manual_agent HGNC:14550 MONDO:0013348 NCBIGene:7450 biolink:gene_associated_with_condition MONDO:0008668 infores:ubergraph knowledge_assertion manual_agent HGNC:12726 MONDO:0008668 NCBIGene:10801 biolink:gene_associated_with_condition MONDO:0008076 infores:ubergraph knowledge_assertion manual_agent HGNC:7323 MONDO:0008076 NCBIGene:331 biolink:gene_associated_with_condition MONDO:0010385 infores:clingen NCBIGene:331 MONDO:0010385 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8243 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:11111 MONDO:0100148 Definitive 2019-06-19T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c281f5fd-d868-4425-a7b4-8e39e3b2090e-2019-06-19T100000.000Z XL X-linked 0001417 NCBIGene:2122 biolink:gene_associated_with_condition MONDO:0100458 infores:ubergraph knowledge_assertion manual_agent HGNC:3498 MONDO:0100458 NCBIGene:51594 biolink:gene_associated_with_condition MONDO:0014659 infores:ubergraph knowledge_assertion manual_agent HGNC:15625 MONDO:0014659 NCBIGene:25942 biolink:gene_associated_with_condition MONDO:0013256 infores:clingen NCBIGene:25942 MONDO:0013256 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2146 biolink:gene_associated_with_condition MONDO:0010193 infores:clingen HGNC:3527 MONDO:0010193 Definitive 2022-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dcf5941-6076-4486-94be-7ba3944abaee-2022-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84720 biolink:gene_associated_with_condition MONDO:0013882 infores:ubergraph knowledge_assertion manual_agent HGNC:23215 MONDO:0013882 NCBIGene:54499 biolink:gene_associated_with_condition MONDO:0800436 infores:ubergraph knowledge_assertion manual_agent HGNC:18188 MONDO:0800436 NCBIGene:2290 biolink:gene_associated_with_condition MONDO:0100040 infores:clingen NCBIGene:2290 MONDO:0100040 Definitive 2018-07-02T14:08:27.839Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f14c6c5-b051-4c94-b9c6-3b80771eed22-2018-07-02T140827.839Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4284 biolink:gene_associated_with_condition MONDO:0014110 infores:ubergraph knowledge_assertion manual_agent HGNC:7103 MONDO:0014110 NCBIGene:85365 biolink:gene_associated_with_condition MONDO:0011933 infores:ubergraph knowledge_assertion manual_agent HGNC:23159 MONDO:0011933 NCBIGene:10916 biolink:gene_associated_with_condition MONDO:0010503 infores:clingen HGNC:16353 MONDO:0010503 Definitive 2022-03-17T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89215cc7-7d55-4cc9-a53a-d8636f786e6d-2022-03-17T060000.000Z XL X-linked 0001417 NCBIGene:7276 biolink:gene_associated_with_condition MONDO:0971004 infores:ubergraph knowledge_assertion manual_agent HGNC:12405 MONDO:0971004 NCBIGene:5742 biolink:gene_associated_with_condition MONDO:0011588 infores:clingen HGNC:9604 MONDO:0011588 Limited 2023-02-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d979e26e-bf9b-4f6a-a37c-2df0f2d35129-2023-02-01T170000.000Z SD Semidominant 0032113 NCBIGene:54583 biolink:gene_associated_with_condition MONDO:0012353 infores:ubergraph knowledge_assertion manual_agent HGNC:1232 MONDO:0012353 NCBIGene:4035 biolink:gene_associated_with_condition MONDO:0018855 infores:ubergraph knowledge_assertion manual_agent HGNC:6692 MONDO:0018855 NCBIGene:25959 biolink:gene_associated_with_condition MONDO:0014492 infores:ubergraph knowledge_assertion manual_agent HGNC:29300 MONDO:0014492 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:1097 MONDO:0009026 Disputed 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f229eceb-8f5e-4ecb-a484-7863b8dc7d19-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55603 biolink:gene_associated_with_condition MONDO:0044329 infores:ubergraph knowledge_assertion manual_agent HGNC:18345 MONDO:0044329 NCBIGene:23495 biolink:gene_associated_with_condition MONDO:0012291 infores:ubergraph knowledge_assertion manual_agent HGNC:18153 MONDO:0012291 NCBIGene:2538 biolink:gene_associated_with_condition MONDO:0002413 infores:clingen HGNC:4056 MONDO:0002413 Definitive 2024-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_951fef4e-a9ac-400c-b94a-5d6531086d9f-2024-09-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9851 biolink:gene_associated_with_condition MONDO:0030356 infores:ubergraph knowledge_assertion manual_agent HGNC:29110 MONDO:0030356 NCBIGene:9688 biolink:gene_associated_with_condition MONDO:0014817 infores:ubergraph knowledge_assertion manual_agent HGNC:28958 MONDO:0014817 NCBIGene:54101 biolink:gene_associated_with_condition MONDO:0008959 infores:ubergraph knowledge_assertion manual_agent HGNC:496 MONDO:0008959 NCBIGene:7109 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7109 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9917 biolink:gene_associated_with_condition MONDO:0015286 infores:clingen HGNC:23017 MONDO:0015286 Limited 2025-04-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72f70309-971d-4adf-8409-8aab95aad5e6-2025-04-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0010378 infores:ubergraph knowledge_assertion manual_agent HGNC:8768 MONDO:0010378 NCBIGene:2978 biolink:gene_associated_with_condition MONDO:0011193 infores:clingen HGNC:4678 MONDO:0011193 Definitive 2025-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e610e6de-7901-4fad-8db5-f71db38fbdff-2025-05-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2187 biolink:gene_associated_with_condition MONDO:0010351 infores:clingen NCBIGene:2187 MONDO:0010351 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb559b04-602e-42cc-aad3-ce634c145c26-2022-12-30T180000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1186 biolink:gene_associated_with_condition MONDO:0012676 infores:clingen HGNC:2025 MONDO:0012676 Definitive 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_651b6ac5-131e-48b2-9869-71f2a9b42dbe-2023-10-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4641 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7597 MONDO:0019497 Disputed 2018-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f27e3d88-0a3d-44f8-bbbc-1f668e596541-2018-06-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6663 biolink:gene_associated_with_condition MONDO:0012698 infores:ubergraph knowledge_assertion manual_agent HGNC:11190 MONDO:0012698 NCBIGene:4700 biolink:gene_associated_with_condition MONDO:0032636 infores:ubergraph knowledge_assertion manual_agent HGNC:7690 MONDO:0032636 NCBIGene:2022 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2022 MONDO:0700096 No evidence available 0 true NCBIGene:80208 biolink:gene_associated_with_condition MONDO:0014726 infores:ubergraph knowledge_assertion manual_agent HGNC:11226 MONDO:0014726 NCBIGene:5376 biolink:gene_associated_with_condition MONDO:0007309 infores:ubergraph knowledge_assertion manual_agent HGNC:9118 MONDO:0007309 NCBIGene:10939 biolink:gene_associated_with_condition MONDO:0033549 infores:ubergraph knowledge_assertion manual_agent HGNC:315 MONDO:0033549 NCBIGene:79955 biolink:gene_associated_with_condition MONDO:0033201 infores:ubergraph knowledge_assertion manual_agent HGNC:26257 MONDO:0033201 NCBIGene:27295 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:20767 MONDO:0005045 Limited 2023-02-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76cba060-8080-42b1-b9ea-2193fea658b0-2023-02-23T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7289 biolink:gene_associated_with_condition MONDO:0859254 infores:ubergraph knowledge_assertion manual_agent HGNC:12425 MONDO:0859254 NCBIGene:3371 biolink:gene_associated_with_condition MONDO:0014283 infores:ubergraph knowledge_assertion manual_agent HGNC:5318 MONDO:0014283 NCBIGene:729920 biolink:gene_associated_with_condition MONDO:0100530 infores:clingen HGNC:37276 MONDO:0100530 Definitive 2023-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d774637-2d63-48fc-b670-da4d9e57377c-2023-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9987 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9987 MONDO:0700096 No evidence available 0 true NCBIGene:8295 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8295 MONDO:0700096 No evidence available 0 true NCBIGene:10370 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:1987 MONDO:0005453 Moderate 2023-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007f4832-e639-4b27-9cc0-8b8cfaf45534-2023-09-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1105 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:1915 MONDO:0100038 Limited 2024-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c8b091b-7709-4344-947b-ec74e8dbad58-2024-04-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:27249 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27249 MONDO:0700096 No evidence available 0 true NCBIGene:2998 biolink:gene_associated_with_condition MONDO:0009414 infores:clingen NCBIGene:2998 MONDO:0009414 Definitive 2024-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd645894-0fa6-4d63-8b8d-16731978ca6b-2024-03-22T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:745 biolink:gene_associated_with_condition MONDO:0010836 infores:ubergraph knowledge_assertion manual_agent HGNC:1181 MONDO:0010836 NCBIGene:286464 biolink:gene_associated_with_condition MONDO:0020642 infores:clingen HGNC:26708 MONDO:0020642 Disputed 2025-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da276c83-09e0-428f-a58e-6cd3bf517d00-2025-02-10T170000.000Z XL X-linked 0001417 NCBIGene:6898 biolink:gene_associated_with_condition MONDO:0010160 infores:ubergraph knowledge_assertion manual_agent HGNC:11573 MONDO:0010160 NCBIGene:10804 biolink:gene_associated_with_condition MONDO:0012975 infores:ubergraph knowledge_assertion manual_agent HGNC:4288 MONDO:0012975 NCBIGene:64858 biolink:gene_associated_with_condition MONDO:0859319 infores:ubergraph knowledge_assertion manual_agent HGNC:17641 MONDO:0859319 NCBIGene:5970 biolink:gene_associated_with_condition MONDO:0032659 infores:ubergraph knowledge_assertion manual_agent HGNC:9955 MONDO:0032659 NCBIGene:2561 biolink:gene_associated_with_condition MONDO:0020631 infores:ubergraph knowledge_assertion manual_agent HGNC:4082 MONDO:0020631 NCBIGene:726 biolink:gene_associated_with_condition MONDO:0100450 infores:ubergraph knowledge_assertion manual_agent HGNC:1482 MONDO:0100450 NCBIGene:254065 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:254065 MONDO:0700096 No evidence available 0 true NCBIGene:56159 biolink:gene_associated_with_condition MONDO:0010647 infores:ubergraph knowledge_assertion manual_agent HGNC:11733 MONDO:0010647 NCBIGene:6566 biolink:gene_associated_with_condition MONDO:0012396 infores:ubergraph knowledge_assertion manual_agent HGNC:10922 MONDO:0012396 NCBIGene:6329 biolink:gene_associated_with_condition MONDO:0957247 infores:ubergraph knowledge_assertion manual_agent HGNC:10591 MONDO:0957247 NCBIGene:79868 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen NCBIGene:79868 MONDO:0100062 Definitive 2018-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f14dd634-ec5c-48cc-a375-e3cfd0c6e832-2018-04-19T160000.000Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:64802 biolink:gene_associated_with_condition MONDO:0800101 infores:ubergraph knowledge_assertion manual_agent HGNC:17877 MONDO:0800101 NCBIGene:5991 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:9984 MONDO:0100038 Definitive 2024-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_645576b3-2538-445d-a39e-d52c198db9f5-2024-04-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9129 biolink:gene_associated_with_condition MONDO:0011075 infores:ubergraph knowledge_assertion manual_agent HGNC:17348 MONDO:0011075 NCBIGene:11133 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:6404 MONDO:0100038 Definitive 2025-07-16T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7047f1c0-edd6-4807-88d4-94f698481a40-2025-07-16T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:4094 biolink:gene_associated_with_condition MONDO:0012437 infores:ubergraph knowledge_assertion manual_agent HGNC:6776 MONDO:0012437 NCBIGene:2956 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:7329 MONDO:0016419 Disputed 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3c3cce5-7d58-4800-a956-e83c092071de-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0020459 infores:clingen HGNC:4823 MONDO:0020459 Moderate 2023-11-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b58582d7-d863-4179-8e4d-76b8e70adde4-2023-11-22T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2066 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2066 MONDO:0700096 No evidence available 0 true NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0013178 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0013178 NCBIGene:2155 biolink:gene_associated_with_condition MONDO:0009211 infores:clingen NCBIGene:2155 MONDO:0009211 Gene associated with autosomal recessive phenotype 30 NCBIGene:9820 biolink:gene_associated_with_condition MONDO:0010117 infores:ubergraph knowledge_assertion manual_agent HGNC:21024 MONDO:0010117 NCBIGene:55210 biolink:gene_associated_with_condition MONDO:0032931 infores:ubergraph knowledge_assertion manual_agent HGNC:25567 MONDO:0032931 NCBIGene:114902 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:14344 MONDO:0019118 Definitive 2024-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ac4ac55-5f45-4ca8-ab83-7065e31f4efc-2024-09-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5831 biolink:gene_associated_with_condition MONDO:0013755 infores:ubergraph knowledge_assertion manual_agent HGNC:9721 MONDO:0013755 NCBIGene:4853 biolink:gene_associated_with_condition MONDO:0007318 infores:clingen HGNC:7882 MONDO:0007318 Definitive 2025-02-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_044f1413-e1cd-4212-9e9a-a4d9c66c08dc-2025-02-26T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010650 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010650 NCBIGene:100303755 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:40045 MONDO:0009723 Limited 2019-05-20T19:18:05.361Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69d9bbe0-ba3f-44f0-b340-d6d824cb969f-2019-05-20T191805.361Z AR Autosomal Recessive 0000007 NCBIGene:9968 biolink:gene_associated_with_condition MONDO:0100000 infores:ubergraph knowledge_assertion manual_agent HGNC:11957 MONDO:0100000 NCBIGene:238 biolink:gene_associated_with_condition MONDO:0013083 infores:clingen HGNC:427 MONDO:0013083 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9f692d-9b6d-4d46-8bfa-009ec20ae538-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:64376 biolink:gene_associated_with_condition MONDO:0030867 infores:clingen HGNC:14283 MONDO:0030867 Limited 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3d7d24b-1fb8-4951-9508-b27035a000a0-2023-09-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4141 biolink:gene_associated_with_condition MONDO:0014566 infores:ubergraph knowledge_assertion manual_agent HGNC:6898 MONDO:0014566 NCBIGene:6850 biolink:gene_associated_with_condition MONDO:0030308 infores:ubergraph knowledge_assertion manual_agent HGNC:11491 MONDO:0030308 NCBIGene:23511 biolink:gene_associated_with_condition MONDO:0032926 infores:ubergraph knowledge_assertion manual_agent HGNC:17859 MONDO:0032926 NCBIGene:6875 biolink:gene_associated_with_condition MONDO:0014365 infores:ubergraph knowledge_assertion manual_agent HGNC:11538 MONDO:0014365 NCBIGene:139411 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:139411 MONDO:0700096 No evidence available 0 true NCBIGene:84992 biolink:gene_associated_with_condition MONDO:0014780 infores:ubergraph knowledge_assertion manual_agent HGNC:28213 MONDO:0014780 NCBIGene:3033 biolink:gene_associated_with_condition MONDO:0012382 infores:ubergraph knowledge_assertion manual_agent HGNC:4799 MONDO:0012382 NCBIGene:29899 biolink:gene_associated_with_condition MONDO:0011411 infores:clingen NCBIGene:29899 MONDO:0011411 Definitive 2018-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd40cf49-a25c-450b-be6b-b80eef958f4c-2018-05-01T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4214 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4214 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23476 biolink:gene_associated_with_condition MONDO:0957921 infores:ubergraph knowledge_assertion manual_agent HGNC:13575 MONDO:0957921 NCBIGene:2067 biolink:gene_associated_with_condition MONDO:0012554 infores:ubergraph knowledge_assertion manual_agent HGNC:3433 MONDO:0012554 NCBIGene:2355 biolink:gene_associated_with_condition MONDO:0968978 infores:clingen NCBIGene:2355 MONDO:0968978 true No evidence available 0 NCBIGene:256764 biolink:gene_associated_with_condition MONDO:0019507 infores:clingen HGNC:26790 MONDO:0019507 Definitive 2021-12-16T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af7fe285-29ab-4f6c-bba1-a582d03972af-2021-12-16T013000.000Z AR Autosomal Recessive 0000007 NCBIGene:352909 biolink:gene_associated_with_condition MONDO:0011718 infores:ubergraph knowledge_assertion manual_agent HGNC:30492 MONDO:0011718 NCBIGene:10491 biolink:gene_associated_with_condition MONDO:0012536 infores:ubergraph knowledge_assertion manual_agent HGNC:2379 MONDO:0012536 NCBIGene:5978 biolink:gene_associated_with_condition MONDO:0012902 infores:ubergraph knowledge_assertion manual_agent HGNC:9966 MONDO:0012902 NCBIGene:26229 biolink:gene_associated_with_condition MONDO:0009511 infores:ubergraph knowledge_assertion manual_agent HGNC:923 MONDO:0009511 NCBIGene:30011 biolink:gene_associated_with_condition MONDO:0010296 infores:clingen HGNC:13867 MONDO:0010296 Limited 2021-11-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cc42cdd-5484-467b-9e35-7529716114dd-2021-11-16T170000.000Z XL X-linked 0001417 NCBIGene:10075 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:30892 MONDO:0019181 Definitive 2017-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ded2ea2f-63ff-428a-8061-7c62c276163b-2017-10-20T160000.000Z XL X-linked 0001417 NCBIGene:940 biolink:gene_associated_with_condition MONDO:0971177 infores:clingen HGNC:1653 MONDO:0971177 Moderate 2024-10-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01ff1097-4da6-4dfb-be34-9161c65f986e-2024-10-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2956 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2956 MONDO:0700096 No evidence available 0 true NCBIGene:56983 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:22954 MONDO:0015152 Definitive 2024-08-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3396945-a664-4ada-bb7f-c123ec50b849-2024-08-14T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:7067 biolink:gene_associated_with_condition MONDO:0013757 infores:ubergraph knowledge_assertion manual_agent HGNC:11796 MONDO:0013757 NCBIGene:104 biolink:gene_associated_with_condition MONDO:0030025 infores:ubergraph knowledge_assertion manual_agent HGNC:226 MONDO:0030025 NCBIGene:9320 biolink:gene_associated_with_condition MONDO:0030914 infores:ubergraph knowledge_assertion manual_agent HGNC:12306 MONDO:0030914 NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0018875 infores:ubergraph knowledge_assertion manual_agent HGNC:11998 MONDO:0018875 NCBIGene:112755 biolink:gene_associated_with_condition MONDO:0014517 infores:ubergraph knowledge_assertion manual_agent HGNC:18539 MONDO:0014517 NCBIGene:2137 biolink:gene_associated_with_condition MONDO:0044312 infores:ubergraph knowledge_assertion manual_agent HGNC:3518 MONDO:0044312 NCBIGene:6235 biolink:gene_associated_with_condition MONDO:0014394 infores:ubergraph knowledge_assertion manual_agent HGNC:10419 MONDO:0014394 NCBIGene:79827 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79827 MONDO:0700096 No evidence available 0 true NCBIGene:388962 biolink:gene_associated_with_condition MONDO:0013675 infores:ubergraph knowledge_assertion manual_agent HGNC:24415 MONDO:0013675 NCBIGene:4773 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:7776 MONDO:0005453 Disputed 2024-03-11T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f22ef84-1ac1-412a-a134-bbe7617cf47f-2024-03-11T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:3290 biolink:gene_associated_with_condition MONDO:0013842 infores:ubergraph knowledge_assertion manual_agent HGNC:5208 MONDO:0013842 NCBIGene:54084 biolink:gene_associated_with_condition MONDO:0859339 infores:ubergraph knowledge_assertion manual_agent HGNC:1268 MONDO:0859339 NCBIGene:11145 biolink:gene_associated_with_condition MONDO:0958034 infores:ubergraph knowledge_assertion manual_agent HGNC:17825 MONDO:0958034 NCBIGene:3257 biolink:gene_associated_with_condition MONDO:0008748 infores:ubergraph knowledge_assertion manual_agent HGNC:5163 MONDO:0008748 NCBIGene:6443 biolink:gene_associated_with_condition MONDO:0016142 infores:ubergraph knowledge_assertion manual_agent HGNC:10806 MONDO:0016142 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0100061 infores:ubergraph knowledge_assertion manual_agent HGNC:9462 MONDO:0100061 NCBIGene:4352 biolink:gene_associated_with_condition MONDO:0011173 infores:clingen HGNC:7217 MONDO:0011173 Definitive 2020-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23b39955-2760-46aa-978b-d27d4a212567-2020-07-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8292 biolink:gene_associated_with_condition MONDO:0011281 infores:ubergraph knowledge_assertion manual_agent HGNC:2226 MONDO:0011281 NCBIGene:79983 biolink:gene_associated_with_condition MONDO:0010373 infores:ubergraph knowledge_assertion manual_agent HGNC:13711 MONDO:0010373 NCBIGene:55212 biolink:gene_associated_with_condition MONDO:1040042 infores:ubergraph knowledge_assertion manual_agent HGNC:18758 MONDO:1040042 NCBIGene:113612 biolink:gene_associated_with_condition MONDO:0019064 infores:clingen HGNC:20582 MONDO:0019064 Definitive 2023-01-16T02:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2d550d2-5653-45dc-a8a3-2dccf4bb49f6-2023-01-16T020000.000Z AR Autosomal Recessive 0000007 NCBIGene:91869 biolink:gene_associated_with_condition MONDO:0012783 infores:clingen HGNC:30220 MONDO:0012783 Moderate 2023-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_850304c8-4ac4-4d58-aaee-1ffa577cccf7-2023-09-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57178 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:16493 MONDO:0100038 Definitive 2022-07-05T02:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6047476-9d50-4b42-a00a-e983c7481f19-2022-07-05T020000.000Z AD Autosomal Dominant 0000006 NCBIGene:87178 biolink:gene_associated_with_condition MONDO:0013978 infores:ubergraph knowledge_assertion manual_agent HGNC:23166 MONDO:0013978 NCBIGene:2072 biolink:gene_associated_with_condition MONDO:0010215 infores:ubergraph knowledge_assertion manual_agent HGNC:3436 MONDO:0010215 NCBIGene:83861 biolink:gene_associated_with_condition MONDO:0014657 infores:clingen HGNC:21054 MONDO:0014657 Definitive 2024-08-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_988a074a-14e9-41e3-a1a6-fff72dda3936-2024-08-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:29081 biolink:gene_associated_with_condition MONDO:0032860 infores:ubergraph knowledge_assertion manual_agent HGNC:25006 MONDO:0032860 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5979 MONDO:0700096 No evidence available 0 true NCBIGene:51733 biolink:gene_associated_with_condition MONDO:0013164 infores:ubergraph knowledge_assertion manual_agent HGNC:16297 MONDO:0013164 NCBIGene:65260 biolink:gene_associated_with_condition MONDO:0020770 infores:ubergraph knowledge_assertion manual_agent HGNC:25716 MONDO:0020770 NCBIGene:1785 biolink:gene_associated_with_condition MONDO:0011674 infores:ubergraph knowledge_assertion manual_agent HGNC:2974 MONDO:0011674 NCBIGene:55624 biolink:gene_associated_with_condition MONDO:0014929 infores:ubergraph knowledge_assertion manual_agent HGNC:19139 MONDO:0014929 NCBIGene:6424 biolink:gene_associated_with_condition MONDO:0009943 infores:ubergraph knowledge_assertion manual_agent HGNC:10778 MONDO:0009943 NCBIGene:6598 biolink:gene_associated_with_condition MONDO:0012252 infores:clingen NCBIGene:6598 MONDO:0012252 Definitive 2018-10-12T20:59:53.762Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d7390e7-0bb1-4ba1-b97e-7f666b52c86b-2018-10-12T205953.762Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54471 biolink:gene_associated_with_condition MONDO:0957824 infores:ubergraph knowledge_assertion manual_agent HGNC:25979 MONDO:0957824 NCBIGene:3777 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6278 MONDO:0015924 Definitive 2021-05-08T15:27:19.928Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e20d0ee0-4a14-4569-a451-729348ce8d23-2021-05-08T152719.928Z AD Autosomal Dominant 0000006 NCBIGene:729359 biolink:gene_associated_with_condition MONDO:0011155 infores:ubergraph knowledge_assertion manual_agent HGNC:29393 MONDO:0011155 NCBIGene:9342 biolink:gene_associated_with_condition MONDO:0012290 infores:clingen NCBIGene:9342 MONDO:0012290 Gene associated with autosomal recessive phenotype 30 NCBIGene:4507 biolink:gene_associated_with_condition MONDO:0007205 infores:clingen NCBIGene:4507 MONDO:0007205 Moderate 2021-06-15T23:29:51.915Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c2243ec-a10f-4aab-aaf9-99153d805455-2021-06-15T232951.915Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0008420 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0008420 NCBIGene:54681 biolink:gene_associated_with_condition MONDO:0032780 infores:ubergraph knowledge_assertion manual_agent HGNC:28858 MONDO:0032780 NCBIGene:23479 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:29882 MONDO:0044970 Definitive 2023-10-19T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_636c0bfd-1dfd-4eb8-af33-3cbb652a2634-2023-10-19T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:161882 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:19762 MONDO:0005453 Limited 2024-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcbabd13-b62a-429e-8122-09a4e1d61e3c-2024-07-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55898 biolink:gene_associated_with_condition MONDO:0859164 infores:ubergraph knowledge_assertion manual_agent HGNC:30594 MONDO:0859164 NCBIGene:23384 biolink:gene_associated_with_condition MONDO:0800025 infores:ubergraph knowledge_assertion manual_agent HGNC:29022 MONDO:0800025 NCBIGene:57459 biolink:gene_associated_with_condition MONDO:0014034 infores:ubergraph knowledge_assertion manual_agent HGNC:30778 MONDO:0014034 NCBIGene:56171 biolink:gene_associated_with_condition MONDO:0957252 infores:ubergraph knowledge_assertion manual_agent HGNC:18661 MONDO:0957252 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0957564 infores:ubergraph knowledge_assertion manual_agent HGNC:132 MONDO:0957564 NCBIGene:3689 biolink:gene_associated_with_condition MONDO:0007293 infores:clingen NCBIGene:3689 MONDO:0007293 Gene associated with autosomal recessive phenotype 30 NCBIGene:4578 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7501 MONDO:0009723 Limited 2021-06-28T15:05:50.120Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dc54202-27f3-4bf4-883f-5273a49dcb70-2021-06-28T150550.120Z MT Mitochondrial 0001427 NCBIGene:1019 biolink:gene_associated_with_condition MONDO:0012183 infores:ubergraph knowledge_assertion manual_agent HGNC:1773 MONDO:0012183 NCBIGene:10525 biolink:gene_associated_with_condition MONDO:0009305 infores:clingen HGNC:16931 MONDO:0009305 Limited 2025-01-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1d9da94-991f-4fea-aabe-484578dfb2eb-2025-01-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51181 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51181 MONDO:0700096 No evidence available 0 true NCBIGene:10290 biolink:gene_associated_with_condition MONDO:0014418 infores:ubergraph knowledge_assertion manual_agent HGNC:16901 MONDO:0014418 NCBIGene:291 biolink:gene_associated_with_condition MONDO:0014959 infores:ubergraph knowledge_assertion manual_agent HGNC:10990 MONDO:0014959 NCBIGene:1770 biolink:gene_associated_with_condition MONDO:0032664 infores:clingen HGNC:2953 MONDO:0032664 Definitive 2024-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d4c2324-1f4e-48d6-b7e9-cc66f7a9dda3-2024-09-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:730 biolink:gene_associated_with_condition MONDO:0012412 infores:ubergraph knowledge_assertion manual_agent HGNC:1346 MONDO:0012412 NCBIGene:57538 biolink:gene_associated_with_condition MONDO:0054838 infores:ubergraph knowledge_assertion manual_agent HGNC:17574 MONDO:0054838 NCBIGene:11136 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11136 MONDO:0700096 No evidence available 0 true NCBIGene:4233 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7029 MONDO:0019497 Limited 2021-03-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0e6f9ac-f807-48fd-a5b6-bf67c4607e14-2021-03-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8029 biolink:gene_associated_with_condition MONDO:0100156 infores:clingen NCBIGene:8029 MONDO:0100156 Gene associated with autosomal recessive phenotype 30 NCBIGene:2328 biolink:gene_associated_with_condition MONDO:0018767 infores:ubergraph knowledge_assertion manual_agent HGNC:3771 MONDO:0018767 NCBIGene:2627 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:4174 MONDO:0005021 No Known Disease Relationship 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0153e88-f3f1-4767-b325-f245ec2f907d-2024-12-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:123872 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:123872 MONDO:0700096 No evidence available 0 true NCBIGene:55717 biolink:gene_associated_with_condition MONDO:0013926 infores:ubergraph knowledge_assertion manual_agent HGNC:13831 MONDO:0013926 NCBIGene:773 biolink:gene_associated_with_condition MONDO:0100254 infores:ubergraph knowledge_assertion manual_agent HGNC:1388 MONDO:0100254 NCBIGene:10531 biolink:gene_associated_with_condition MONDO:0030318 infores:ubergraph knowledge_assertion manual_agent HGNC:17663 MONDO:0030318 NCBIGene:79625 biolink:gene_associated_with_condition MONDO:0030010 infores:ubergraph knowledge_assertion manual_agent HGNC:26256 MONDO:0030010 NCBIGene:23426 biolink:gene_associated_with_condition MONDO:0054739 infores:ubergraph knowledge_assertion manual_agent HGNC:18708 MONDO:0054739 NCBIGene:9469 biolink:gene_associated_with_condition MONDO:0007738 infores:clingen HGNC:1971 MONDO:0007738 Definitive 2025-08-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d3d5a41-bc8d-4a05-bd99-abe526bd391a-2025-08-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8379 biolink:gene_associated_with_condition MONDO:0859346 infores:ubergraph knowledge_assertion manual_agent HGNC:6762 MONDO:0859346 NCBIGene:175 biolink:gene_associated_with_condition MONDO:0008830 infores:clingen HGNC:318 MONDO:0008830 Definitive 2022-09-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f315b4a-1a3b-4deb-90fd-2b73f732a4ba-2022-09-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1311 biolink:gene_associated_with_condition MONDO:0100593 infores:clingen HGNC:2227 MONDO:0100593 Definitive 2025-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9905abef-52f7-4beb-9232-7651967d9f27-2025-02-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:80206 biolink:gene_associated_with_condition MONDO:0030317 infores:ubergraph knowledge_assertion manual_agent HGNC:26178 MONDO:0030317 NCBIGene:27329 biolink:gene_associated_with_condition MONDO:0011505 infores:ubergraph knowledge_assertion manual_agent HGNC:491 MONDO:0011505 NCBIGene:4099 biolink:gene_associated_with_condition MONDO:0014729 infores:ubergraph knowledge_assertion manual_agent HGNC:6783 MONDO:0014729 NCBIGene:1000 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:1759 MONDO:0005021 Limited 2025-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73900af1-14ee-4933-b5dc-832753e6cc6c-2025-05-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:22820 biolink:gene_associated_with_condition MONDO:0800136 infores:clingen HGNC:2236 MONDO:0800136 Limited 2024-01-18T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d3aaced-2415-425a-b2c7-b59c7a687a2c-2024-01-18T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:4774 biolink:gene_associated_with_condition MONDO:0100478 infores:clingen HGNC:7784 MONDO:0100478 Definitive 2022-10-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d5a5b89-8315-495a-b13d-448f9ba9c553-2022-10-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7802 biolink:gene_associated_with_condition MONDO:0957250 infores:ubergraph knowledge_assertion manual_agent HGNC:14353 MONDO:0957250 NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0011493 infores:clingen NCBIGene:1301 MONDO:0011493 true Little evidence for dosage pathogenicity 1 NCBIGene:9992 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:6242 MONDO:0002442 Disputed 2020-12-15T00:23:41.412Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9912be79-b172-46ca-a67c-99698de5590b-2020-12-15T002341.412Z AD Autosomal Dominant 0000006 NCBIGene:5236 biolink:gene_associated_with_condition MONDO:0013968 infores:ubergraph knowledge_assertion manual_agent HGNC:8905 MONDO:0013968 NCBIGene:2582 biolink:gene_associated_with_condition MONDO:0009257 infores:clingen HGNC:4116 MONDO:0009257 Definitive 2023-09-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab7f5785-45a0-47dd-b646-6792c901d2d8-2023-09-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8802 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:11449 MONDO:0009723 Moderate 2019-04-18T18:14:48.882Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd0a5a96-69b8-47fb-9b7b-17de29439ecc-2019-04-18T181448.882Z AR Autosomal Recessive 0000007 NCBIGene:8564 biolink:gene_associated_with_condition MONDO:0019975 infores:clingen HGNC:6381 MONDO:0019975 No Known Disease Relationship 2023-05-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47847642-c495-43ac-92d4-854ecdd773ba-2023-05-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:18060 MONDO:0100148 Definitive 2020-12-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccf3ab49-ee8f-4980-aa04-ca13c21c124a-2020-12-01T170000.000Z XL X-linked 0001417 NCBIGene:9997 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:10604 MONDO:0009723 Definitive 2019-03-28T15:42:45.471Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_011dd1c7-94bb-4a70-8b95-cc25432a5ea2-2019-03-28T154245.471Z AR Autosomal Recessive 0000007 NCBIGene:80331 biolink:gene_associated_with_condition MONDO:0019260 infores:clingen HGNC:16235 MONDO:0019260 Moderate 2025-01-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67f55ef1-b312-4aac-bc04-67beb2405b4f-2025-01-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:219285 biolink:gene_associated_with_condition MONDO:0008038 infores:ubergraph knowledge_assertion manual_agent HGNC:1349 MONDO:0008038 NCBIGene:2619 biolink:gene_associated_with_condition MONDO:0016296 infores:clingen HGNC:4165 MONDO:0016296 Limited 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cd8c663-391d-4f50-812b-9daae61c8fd4-2023-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6595 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6595 MONDO:0700096 No evidence available 0 true NCBIGene:7026 biolink:gene_associated_with_condition MONDO:0014344 infores:ubergraph knowledge_assertion manual_agent HGNC:7976 MONDO:0014344 NCBIGene:7716 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:12949 MONDO:0005021 No Known Disease Relationship 2025-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17572620-69e6-4e55-9d4f-bc4ff78f452b-2025-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23126 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23126 MONDO:0700096 No evidence available 0 true NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1832 MONDO:0700096 No evidence available 0 true NCBIGene:3630 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3630 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1394 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1394 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23022 biolink:gene_associated_with_condition MONDO:0011739 infores:ubergraph knowledge_assertion manual_agent HGNC:17068 MONDO:0011739 NCBIGene:64131 biolink:gene_associated_with_condition MONDO:0014343 infores:ubergraph knowledge_assertion manual_agent HGNC:15516 MONDO:0014343 NCBIGene:23204 biolink:gene_associated_with_condition MONDO:0014304 infores:clingen NCBIGene:23204 MONDO:0014304 Gene associated with autosomal recessive phenotype 30 NCBIGene:1349 biolink:gene_associated_with_condition MONDO:0010474 infores:ubergraph knowledge_assertion manual_agent HGNC:2291 MONDO:0010474 NCBIGene:10787 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:10787 MONDO:0100038 Definitive 2023-12-06T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd76936d-edb5-4c9b-9727-eb8e568f3ed2-2023-12-06T070000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4232 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4232 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7391 biolink:gene_associated_with_condition MONDO:0011237 infores:ubergraph knowledge_assertion manual_agent HGNC:12593 MONDO:0011237 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0018663 infores:clingen HGNC:6518 MONDO:0018663 Moderate 2023-08-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9363af5e-5076-4f7b-bff3-3c15751bca92-2023-08-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2660 biolink:gene_associated_with_condition MONDO:0013598 infores:ubergraph knowledge_assertion manual_agent HGNC:4223 MONDO:0013598 NCBIGene:6204 biolink:gene_associated_with_condition MONDO:0015253 infores:clingen HGNC:10383 MONDO:0015253 Definitive 2017-01-19T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3205 AD Autosomal Dominant 0000006 NCBIGene:25828 biolink:gene_associated_with_condition MONDO:0014781 infores:ubergraph knowledge_assertion manual_agent HGNC:17772 MONDO:0014781 NCBIGene:25942 biolink:gene_associated_with_condition MONDO:0044699 infores:ubergraph knowledge_assertion manual_agent HGNC:19353 MONDO:0044699 NCBIGene:79443 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79443 MONDO:0700096 No evidence available 0 true NCBIGene:2178 biolink:gene_associated_with_condition MONDO:0010953 infores:ubergraph knowledge_assertion manual_agent HGNC:3586 MONDO:0010953 NCBIGene:55249 biolink:gene_associated_with_condition MONDO:0011243 infores:ubergraph knowledge_assertion manual_agent HGNC:30935 MONDO:0011243 NCBIGene:55851 biolink:gene_associated_with_condition MONDO:0013397 infores:ubergraph knowledge_assertion manual_agent HGNC:30100 MONDO:0013397 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0700273 infores:clingen HGNC:9820 MONDO:0700273 Definitive 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31cb27be-dd32-4bb7-86bd-43c4b1eabaf5-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:57148 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:57148 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:7171 biolink:gene_associated_with_condition MONDO:0957580 infores:ubergraph knowledge_assertion manual_agent HGNC:12013 MONDO:0957580 NCBIGene:6708 biolink:gene_associated_with_condition MONDO:0007533 infores:ubergraph knowledge_assertion manual_agent HGNC:11272 MONDO:0007533 NCBIGene:4791 biolink:gene_associated_with_condition MONDO:0014260 infores:clingen HGNC:7795 MONDO:0014260 Definitive 2021-10-13T13:26:01.192Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b546f1-5683-4588-a5bc-030ebbd5b401-2021-10-13T132601.192Z AD Autosomal Dominant 0000006 NCBIGene:11285 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11285 MONDO:0700096 No evidence available 0 true NCBIGene:10388 biolink:gene_associated_with_condition MONDO:0009776 infores:ubergraph knowledge_assertion manual_agent HGNC:11490 MONDO:0009776 NCBIGene:39 biolink:gene_associated_with_condition MONDO:0013548 infores:clingen HGNC:94 MONDO:0013548 No Known Disease Relationship 2021-01-25T19:48:53.212Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cb46678-6e33-4d34-86ba-fdf59e59fb80-2021-01-25T194853.212Z UD Undetermined Mode of Inheritance NCBIGene:9750 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:13872 MONDO:0019587 Limited 2024-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64425d70-9de8-4b24-946d-338d86cecf48-2024-05-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6777 biolink:gene_associated_with_condition MONDO:0100211 infores:ubergraph knowledge_assertion manual_agent HGNC:11367 MONDO:0100211 NCBIGene:9736 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:20066 MONDO:0005453 Limited 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a75413c-7a13-4511-895b-64ca7decc25e-2024-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10087 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10087 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23219 biolink:gene_associated_with_condition MONDO:0030695 infores:ubergraph knowledge_assertion manual_agent HGNC:29046 MONDO:0030695 NCBIGene:10491 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10491 MONDO:0700096 No evidence available 0 true NCBIGene:147409 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:147409 MONDO:0700096 No evidence available 0 true NCBIGene:3912 biolink:gene_associated_with_condition MONDO:0014077 infores:ubergraph knowledge_assertion manual_agent HGNC:6486 MONDO:0014077 NCBIGene:5479 biolink:gene_associated_with_condition MONDO:0009805 infores:ubergraph knowledge_assertion manual_agent HGNC:9255 MONDO:0009805 NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0013489 infores:ubergraph knowledge_assertion manual_agent HGNC:6215 MONDO:0013489 NCBIGene:10269 biolink:gene_associated_with_condition MONDO:0012074 infores:ubergraph knowledge_assertion manual_agent HGNC:12877 MONDO:0012074 NCBIGene:23636 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:8066 MONDO:0009723 Disputed 2020-12-16T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8441b4db-da7d-49a2-816c-9f868a96ffab-2020-12-16T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:8526 biolink:gene_associated_with_condition MONDO:0014005 infores:clingen NCBIGene:8526 MONDO:0014005 Gene associated with autosomal recessive phenotype 30 NCBIGene:23086 biolink:gene_associated_with_condition MONDO:0014014 infores:ubergraph knowledge_assertion manual_agent HGNC:30578 MONDO:0014014 NCBIGene:23529 biolink:gene_associated_with_condition MONDO:0012467 infores:ubergraph knowledge_assertion manual_agent HGNC:17412 MONDO:0012467 NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4488 MONDO:0700096 No evidence available 0 true NCBIGene:22827 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22827 MONDO:0700096 No evidence available 0 true NCBIGene:5092 biolink:gene_associated_with_condition MONDO:0009908 infores:clingen HGNC:8646 MONDO:0009908 Definitive 2021-07-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d305c30f-50c1-491a-846f-4af6a2ad8aff-2021-07-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2048 biolink:gene_associated_with_condition MONDO:0032765 infores:clingen HGNC:3393 MONDO:0032765 Limited 2024-09-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f895977-6c0c-49f1-97b6-cf4d0fd3a894-2024-09-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:435 biolink:gene_associated_with_condition MONDO:0008815 infores:ubergraph knowledge_assertion manual_agent HGNC:746 MONDO:0008815 NCBIGene:4920 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4920 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:78989 biolink:gene_associated_with_condition MONDO:0009927 infores:clingen NCBIGene:78989 MONDO:0009927 Gene associated with autosomal recessive phenotype 30 NCBIGene:23600 biolink:gene_associated_with_condition MONDO:0013681 infores:ubergraph knowledge_assertion manual_agent HGNC:451 MONDO:0013681 NCBIGene:26276 biolink:gene_associated_with_condition MONDO:0859278 infores:ubergraph knowledge_assertion manual_agent HGNC:12712 MONDO:0859278 NCBIGene:4552 biolink:gene_associated_with_condition MONDO:0009354 infores:ubergraph knowledge_assertion manual_agent HGNC:7473 MONDO:0009354 NCBIGene:493753 biolink:gene_associated_with_condition MONDO:0014667 infores:ubergraph knowledge_assertion manual_agent HGNC:33848 MONDO:0014667 NCBIGene:388939 biolink:gene_associated_with_condition MONDO:0800404 infores:clingen HGNC:34383 MONDO:0800404 Definitive 2022-10-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afbc5168-51f6-4f69-bf41-41b9a1d9d665-2022-10-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1298 biolink:gene_associated_with_condition MONDO:0013666 infores:ubergraph knowledge_assertion manual_agent HGNC:2218 MONDO:0013666 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2200 MONDO:0700096 No evidence available 0 true NCBIGene:6519 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6519 MONDO:0700096 No evidence available 0 true NCBIGene:10848 biolink:gene_associated_with_condition MONDO:0957795 infores:ubergraph knowledge_assertion manual_agent HGNC:18838 MONDO:0957795 NCBIGene:124583 biolink:gene_associated_with_condition MONDO:0009629 infores:ubergraph knowledge_assertion manual_agent HGNC:19721 MONDO:0009629 NCBIGene:51057 biolink:gene_associated_with_condition MONDO:0014443 infores:ubergraph knowledge_assertion manual_agent HGNC:28027 MONDO:0014443 NCBIGene:5981 biolink:gene_associated_with_condition MONDO:0044720 infores:clingen HGNC:9969 MONDO:0044720 Definitive 2024-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca97da22-8a5e-47d8-837c-46433ee398a9-2024-10-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:22880 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:23573 MONDO:0009723 Limited 2021-06-14T14:29:52.247Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23358115-fe60-41c7-b01e-44d1cb8329b1-2021-06-14T142952.247Z AD Autosomal Dominant 0000006 NCBIGene:100506658 biolink:gene_associated_with_condition MONDO:0020789 infores:ubergraph knowledge_assertion manual_agent HGNC:8104 MONDO:0020789 NCBIGene:114034 biolink:gene_associated_with_condition MONDO:0013993 infores:ubergraph knowledge_assertion manual_agent HGNC:15954 MONDO:0013993 NCBIGene:26154 biolink:gene_associated_with_condition MONDO:0011026 infores:ubergraph knowledge_assertion manual_agent HGNC:14637 MONDO:0011026 NCBIGene:2317 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2317 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4692 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4692 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3720 biolink:gene_associated_with_condition MONDO:0859306 infores:ubergraph knowledge_assertion manual_agent HGNC:6196 MONDO:0859306 NCBIGene:64412 biolink:gene_associated_with_condition MONDO:0060556 infores:ubergraph knowledge_assertion manual_agent HGNC:15808 MONDO:0060556 NCBIGene:5133 biolink:gene_associated_with_condition MONDO:0007179 infores:clingen HGNC:8760 MONDO:0007179 Limited 2025-02-02T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d444b18e-13e7-41dc-874c-eec705f26708-2025-02-02T100000.000Z AR Autosomal Recessive 0000007 NCBIGene:6683 biolink:gene_associated_with_condition MONDO:0100523 infores:ubergraph knowledge_assertion manual_agent HGNC:11233 MONDO:0100523 NCBIGene:8216 biolink:gene_associated_with_condition MONDO:0011531 infores:ubergraph knowledge_assertion manual_agent HGNC:6742 MONDO:0011531 NCBIGene:11117 biolink:gene_associated_with_condition MONDO:0971179 infores:ubergraph knowledge_assertion manual_agent HGNC:19880 MONDO:0971179 NCBIGene:57167 biolink:gene_associated_with_condition MONDO:0007836 infores:ubergraph knowledge_assertion manual_agent HGNC:15924 MONDO:0007836 NCBIGene:3145 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3145 MONDO:0700096 No evidence available 0 true NCBIGene:1795 biolink:gene_associated_with_condition MONDO:0032661 infores:ubergraph knowledge_assertion manual_agent HGNC:2989 MONDO:0032661 NCBIGene:5077 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5077 MONDO:0700096 No evidence available 0 true NCBIGene:5340 biolink:gene_associated_with_condition MONDO:0009009 infores:ubergraph knowledge_assertion manual_agent HGNC:9071 MONDO:0009009 NCBIGene:23389 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23389 MONDO:0700096 No evidence available 0 true NCBIGene:27130 biolink:gene_associated_with_condition MONDO:0011190 infores:clingen HGNC:17870 MONDO:0011190 Definitive 2021-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bdaee2a-144d-4bdf-a5c7-78001b991174-2021-02-24T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8974 biolink:gene_associated_with_condition MONDO:0014982 infores:ubergraph knowledge_assertion manual_agent HGNC:8547 MONDO:0014982 NCBIGene:80169 biolink:gene_associated_with_condition MONDO:0024564 infores:clingen NCBIGene:80169 MONDO:0024564 Gene associated with autosomal recessive phenotype 30 NCBIGene:1584 biolink:gene_associated_with_condition MONDO:0008729 infores:ubergraph knowledge_assertion manual_agent HGNC:2591 MONDO:0008729 NCBIGene:3295 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3295 MONDO:0700096 No evidence available 0 true NCBIGene:90411 biolink:gene_associated_with_condition MONDO:0013331 infores:clingen NCBIGene:90411 MONDO:0013331 Definitive 2020-06-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afa4ae2a-c40d-4f25-affe-852a67144cdd-2020-06-24T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:79813 biolink:gene_associated_with_condition MONDO:0012455 infores:clingen HGNC:24650 MONDO:0012455 Definitive 2018-06-06T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db91a861-6a88-4848-b6d5-4772bdef52ff-2018-06-06T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:1131 biolink:gene_associated_with_condition MONDO:0007032 infores:ubergraph knowledge_assertion manual_agent HGNC:1952 MONDO:0007032 NCBIGene:10479 biolink:gene_associated_with_condition MONDO:0010278 infores:ubergraph knowledge_assertion manual_agent HGNC:11079 MONDO:0010278 NCBIGene:10616 biolink:gene_associated_with_condition MONDO:0014389 infores:ubergraph knowledge_assertion manual_agent HGNC:15864 MONDO:0014389 NCBIGene:2070 biolink:gene_associated_with_condition MONDO:0011031 infores:clingen NCBIGene:2070 MONDO:0011031 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9401 biolink:gene_associated_with_condition MONDO:0009039 infores:ubergraph knowledge_assertion manual_agent HGNC:9949 MONDO:0009039 NCBIGene:1789 biolink:gene_associated_with_condition MONDO:0030355 infores:ubergraph knowledge_assertion manual_agent HGNC:2979 MONDO:0030355 NCBIGene:11234 biolink:gene_associated_with_condition MONDO:0013557 infores:ubergraph knowledge_assertion manual_agent HGNC:17022 MONDO:0013557 NCBIGene:3868 biolink:gene_associated_with_condition MONDO:0013073 infores:ubergraph knowledge_assertion manual_agent HGNC:6423 MONDO:0013073 NCBIGene:2720 biolink:gene_associated_with_condition MONDO:0018149 infores:ubergraph knowledge_assertion manual_agent HGNC:4298 MONDO:0018149 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0010979 infores:clingen HGNC:1390 MONDO:0010979 Definitive 2023-04-14T02:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1fc2dfc-d200-40d0-9cd6-421276578e6e-2023-04-14T020000.000Z AD Autosomal Dominant 0000006 NCBIGene:4010 biolink:gene_associated_with_condition MONDO:0008061 infores:clingen NCBIGene:4010 MONDO:0008061 Definitive 2021-07-27T14:42:11.405Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c89e1a52-3ef8-4a61-bf56-1e43cf88fc6e-2021-07-27T144211.405Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7991 biolink:gene_associated_with_condition MONDO:0012615 infores:ubergraph knowledge_assertion manual_agent HGNC:30242 MONDO:0012615 NCBIGene:29978 biolink:gene_associated_with_condition MONDO:0010459 infores:ubergraph knowledge_assertion manual_agent HGNC:12509 MONDO:0010459 NCBIGene:8517 biolink:gene_associated_with_condition MONDO:0800129 infores:ubergraph knowledge_assertion manual_agent HGNC:5961 MONDO:0800129 NCBIGene:9421 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4807 MONDO:0005453 Moderate 2023-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a70bdb1-a3fc-45c5-aabb-4d2829fa6f29-2023-04-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10381 biolink:gene_associated_with_condition MONDO:0100154 infores:clingen HGNC:20772 MONDO:0100154 Definitive 2022-09-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c84fdf7-0c4e-4168-965b-99e925c9d77b-2022-09-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54982 biolink:gene_associated_with_condition MONDO:0008768 infores:ubergraph knowledge_assertion manual_agent HGNC:2077 MONDO:0008768 NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7291 MONDO:0700096 No evidence available 0 true NCBIGene:8930 biolink:gene_associated_with_condition MONDO:0859267 infores:clingen HGNC:6919 MONDO:0859267 Moderate 2024-07-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbd430ad-bb2c-46cc-b16c-5013594d84e8-2024-07-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:197131 biolink:gene_associated_with_condition MONDO:0009479 infores:ubergraph knowledge_assertion manual_agent HGNC:16808 MONDO:0009479 NCBIGene:55997 biolink:gene_associated_with_condition MONDO:0011546 infores:ubergraph knowledge_assertion manual_agent HGNC:18292 MONDO:0011546 NCBIGene:2702 biolink:gene_associated_with_condition MONDO:0007171 infores:ubergraph knowledge_assertion manual_agent HGNC:4279 MONDO:0007171 NCBIGene:6548 biolink:gene_associated_with_condition MONDO:0014572 infores:clingen HGNC:11071 MONDO:0014572 Moderate 2025-07-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1333b89-1442-460f-9fab-11e7b4322117-2025-07-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4604 biolink:gene_associated_with_condition MONDO:0044682 infores:ubergraph knowledge_assertion manual_agent HGNC:7549 MONDO:0044682 NCBIGene:27161 biolink:gene_associated_with_condition MONDO:0030897 infores:clingen HGNC:3263 MONDO:0030897 Definitive 2023-09-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec86c06a-f5a3-448d-be53-277bc91d12de-2023-09-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:65125 biolink:gene_associated_with_condition MONDO:0024309 infores:ubergraph knowledge_assertion manual_agent HGNC:14540 MONDO:0024309 NCBIGene:7436 biolink:gene_associated_with_condition MONDO:0024542 infores:clingen NCBIGene:7436 MONDO:0024542 Definitive 2023-06-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dace100-8e75-4da9-a893-4a694d031a7b-2023-06-13T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:189 biolink:gene_associated_with_condition MONDO:0100278 infores:ubergraph knowledge_assertion manual_agent HGNC:341 MONDO:0100278 NCBIGene:6821 biolink:gene_associated_with_condition MONDO:0010089 infores:ubergraph knowledge_assertion manual_agent HGNC:11460 MONDO:0010089 NCBIGene:3460 biolink:gene_associated_with_condition MONDO:0017902 infores:ubergraph knowledge_assertion manual_agent HGNC:5440 MONDO:0017902 NCBIGene:79784 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:23212 MONDO:0019497 Moderate 2020-08-31T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007697a5-2f83-40d0-b2ea-914e458a1452-2020-08-31T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5915 biolink:gene_associated_with_condition MONDO:0014229 infores:ubergraph knowledge_assertion manual_agent HGNC:9865 MONDO:0014229 NCBIGene:4774 biolink:gene_associated_with_condition MONDO:0013396 infores:clingen NCBIGene:4774 MONDO:0013396 Sufficient evidence for dosage pathogenicity 3 NCBIGene:286 biolink:gene_associated_with_condition MONDO:0008447 infores:ubergraph knowledge_assertion manual_agent HGNC:492 MONDO:0008447 NCBIGene:7979 biolink:gene_associated_with_condition MONDO:0009080 infores:clingen NCBIGene:7979 MONDO:0009080 true No evidence available 0 NCBIGene:36 biolink:gene_associated_with_condition MONDO:0012392 infores:clingen NCBIGene:36 MONDO:0012392 Definitive 2019-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bfa3857-c96c-40ac-b4c1-2cf04fd4eb4f-2019-03-22T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:22891 biolink:gene_associated_with_condition MONDO:0011622 infores:ubergraph knowledge_assertion manual_agent HGNC:18194 MONDO:0011622 NCBIGene:4338 biolink:gene_associated_with_condition MONDO:0009644 infores:ubergraph knowledge_assertion manual_agent HGNC:7193 MONDO:0009644 NCBIGene:1056 biolink:gene_associated_with_condition MONDO:0012348 infores:ubergraph knowledge_assertion manual_agent HGNC:1848 MONDO:0012348 NCBIGene:6016 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:10023 MONDO:0018997 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_240565fc-61b9-4ff8-9f5a-85938f17cdd9-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26011 biolink:gene_associated_with_condition MONDO:0014756 infores:ubergraph knowledge_assertion manual_agent HGNC:29945 MONDO:0014756 NCBIGene:1826 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen NCBIGene:1826 MONDO:0005258 Some evidence for dosage pathogenicity 2 NCBIGene:3778 biolink:gene_associated_with_condition MONDO:0032886 infores:ubergraph knowledge_assertion manual_agent HGNC:6284 MONDO:0032886 NCBIGene:3737 biolink:gene_associated_with_condition MONDO:0014607 infores:ubergraph knowledge_assertion manual_agent HGNC:6220 MONDO:0014607 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0011186 infores:clingen NCBIGene:65217 MONDO:0011186 Gene associated with autosomal recessive phenotype 30 NCBIGene:60561 biolink:gene_associated_with_condition MONDO:0032844 infores:ubergraph knowledge_assertion manual_agent HGNC:21876 MONDO:0032844 NCBIGene:29929 biolink:gene_associated_with_condition MONDO:0011291 infores:ubergraph knowledge_assertion manual_agent HGNC:23157 MONDO:0011291 NCBIGene:2632 biolink:gene_associated_with_condition MONDO:0009292 infores:ubergraph knowledge_assertion manual_agent HGNC:4180 MONDO:0009292 NCBIGene:24 biolink:gene_associated_with_condition MONDO:0007932 infores:clingen HGNC:34 MONDO:0007932 Disputed 2025-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f249e6f-9a1c-4c82-893b-dfaa327cc06b-2025-03-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5010 biolink:gene_associated_with_condition MONDO:0025701 infores:ubergraph knowledge_assertion manual_agent HGNC:8514 MONDO:0025701 NCBIGene:23426 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23426 MONDO:0700096 No evidence available 0 true NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0008702 infores:clingen HGNC:2200 MONDO:0008702 Definitive 2020-10-05T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14640c06-c66e-4dc7-86ea-9b0850e51474-2020-10-05T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:8929 biolink:gene_associated_with_condition MONDO:0020493 infores:clingen NCBIGene:8929 MONDO:0020493 Definitive 2021-06-15T15:29:06.892Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07133a39-00fb-43c4-a7e2-a465c3c0c4ca-2021-06-15T152906.892Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:58495 biolink:gene_associated_with_condition MONDO:0007378 infores:ubergraph knowledge_assertion manual_agent HGNC:15804 MONDO:0007378 NCBIGene:24145 biolink:gene_associated_with_condition MONDO:0032810 infores:ubergraph knowledge_assertion manual_agent HGNC:8599 MONDO:0032810 NCBIGene:29894 biolink:gene_associated_with_condition MONDO:0032941 infores:ubergraph knowledge_assertion manual_agent HGNC:2324 MONDO:0032941 NCBIGene:587 biolink:gene_associated_with_condition MONDO:0100058 infores:clingen HGNC:977 MONDO:0100058 Definitive 2020-07-24T17:23:25.905Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5e16ee6-88c9-4872-8681-dd7fd0156b0f-2020-07-24T172325.905Z AR Autosomal Recessive 0000007 NCBIGene:8243 biolink:gene_associated_with_condition MONDO:0010370 infores:ubergraph knowledge_assertion manual_agent HGNC:11111 MONDO:0010370 NCBIGene:81034 biolink:gene_associated_with_condition MONDO:0014795 infores:ubergraph knowledge_assertion manual_agent HGNC:29683 MONDO:0014795 NCBIGene:640 biolink:gene_associated_with_condition MONDO:0013242 infores:ubergraph knowledge_assertion manual_agent HGNC:1057 MONDO:0013242 NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0008514 infores:ubergraph knowledge_assertion manual_agent HGNC:4274 MONDO:0008514 NCBIGene:6506 biolink:gene_associated_with_condition MONDO:0100620 infores:clingen NCBIGene:6506 MONDO:0100620 true Little evidence for dosage pathogenicity 1 NCBIGene:26022 biolink:gene_associated_with_condition MONDO:0014426 infores:clingen HGNC:24529 MONDO:0014426 Limited 2025-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_299e24cd-9096-41ad-8931-94e9a1c8d4ff-2025-04-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2911 biolink:gene_associated_with_condition MONDO:0013905 infores:clingen NCBIGene:2911 MONDO:0013905 Gene associated with autosomal recessive phenotype 30 NCBIGene:8036 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:15454 MONDO:0018997 Disputed 2018-05-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_185c93c8-e875-46a2-83af-a8575b19a228-2018-05-31T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55217 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55217 MONDO:0700096 No evidence available 0 true NCBIGene:4438 biolink:gene_associated_with_condition MONDO:0007161 infores:ubergraph knowledge_assertion manual_agent HGNC:7327 MONDO:0007161 NCBIGene:28976 biolink:gene_associated_with_condition MONDO:0012624 infores:clingen HGNC:21497 MONDO:0012624 Definitive 2018-03-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fad1866-75ce-470f-984c-e64bb7e11168-2018-03-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3590 biolink:gene_associated_with_condition MONDO:0013615 infores:clingen HGNC:5967 MONDO:0013615 Definitive 2023-04-20T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_903705e8-451e-4ed9-b3fc-d50df68c3fa2-2023-04-20T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:10128 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:15714 MONDO:0044970 Definitive 2024-06-20T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72f89e4d-6a21-4556-b601-ce87f4ab60d4-2024-06-20T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5309 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5309 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:27235 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25223 MONDO:0044970 Definitive 2023-01-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b91e278-c030-40b2-b135-c558fcc49531-2023-01-30T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8905 biolink:gene_associated_with_condition MONDO:0010574 infores:clingen NCBIGene:8905 MONDO:0010574 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0019517 infores:clingen HGNC:7105 MONDO:0019517 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc5d40d2-44b5-49b6-97a9-7bdfc39bee49-2017-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2258 biolink:gene_associated_with_condition MONDO:0859086 infores:ubergraph knowledge_assertion manual_agent HGNC:3670 MONDO:0859086 NCBIGene:1829 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:3049 MONDO:0005021 Limited 2025-03-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7df1018-593f-481f-9dd0-77ce3ea829a6-2025-03-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5836 biolink:gene_associated_with_condition MONDO:0009294 infores:ubergraph knowledge_assertion manual_agent HGNC:9725 MONDO:0009294 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0012480 infores:ubergraph knowledge_assertion manual_agent HGNC:59 MONDO:0012480 NCBIGene:51343 biolink:gene_associated_with_condition MONDO:0859325 infores:ubergraph knowledge_assertion manual_agent HGNC:24824 MONDO:0859325 NCBIGene:23522 biolink:gene_associated_with_condition MONDO:0011365 infores:clingen NCBIGene:23522 MONDO:0011365 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55135 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55135 MONDO:0700096 No evidence available 0 true NCBIGene:2811 biolink:gene_associated_with_condition MONDO:0008332 infores:ubergraph knowledge_assertion manual_agent HGNC:4439 MONDO:0008332 NCBIGene:51322 biolink:gene_associated_with_condition MONDO:0014741 infores:ubergraph knowledge_assertion manual_agent HGNC:17327 MONDO:0014741 NCBIGene:64801 biolink:gene_associated_with_condition MONDO:0014868 infores:ubergraph knowledge_assertion manual_agent HGNC:29561 MONDO:0014868 NCBIGene:2891 biolink:gene_associated_with_condition MONDO:0030060 infores:clingen HGNC:4572 MONDO:0030060 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd72c9ed-0236-406f-a18e-8d743c7f5827-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51204 biolink:gene_associated_with_condition MONDO:0033638 infores:ubergraph knowledge_assertion manual_agent HGNC:24316 MONDO:0033638 NCBIGene:10370 biolink:gene_associated_with_condition MONDO:0013748 infores:ubergraph knowledge_assertion manual_agent HGNC:1987 MONDO:0013748 NCBIGene:79587 biolink:gene_associated_with_condition MONDO:0014728 infores:ubergraph knowledge_assertion manual_agent HGNC:25695 MONDO:0014728 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0008679 infores:ubergraph knowledge_assertion manual_agent HGNC:12796 MONDO:0008679 NCBIGene:889 biolink:gene_associated_with_condition MONDO:0020724 infores:ubergraph knowledge_assertion manual_agent HGNC:1573 MONDO:0020724 NCBIGene:8405 biolink:gene_associated_with_condition MONDO:0032942 infores:ubergraph knowledge_assertion manual_agent HGNC:11254 MONDO:0032942 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0007893 infores:clingen HGNC:9829 MONDO:0007893 Limited 2018-07-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cda0bf05-836b-40bb-99f5-e1dbfd0f6741-2018-07-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7431 biolink:gene_associated_with_condition MONDO:0007286 infores:ubergraph knowledge_assertion manual_agent HGNC:12692 MONDO:0007286 NCBIGene:63916 biolink:gene_associated_with_condition MONDO:0011744 infores:ubergraph knowledge_assertion manual_agent HGNC:17233 MONDO:0011744 NCBIGene:7345 biolink:gene_associated_with_condition MONDO:0019064 infores:clingen HGNC:12513 MONDO:0019064 Moderate 2025-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a297cb2b-e4ea-4fd9-8266-611963988941-2025-05-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:387787 biolink:gene_associated_with_condition MONDO:0060562 infores:ubergraph knowledge_assertion manual_agent HGNC:37216 MONDO:0060562 NCBIGene:4254 biolink:gene_associated_with_condition MONDO:0014738 infores:ubergraph knowledge_assertion manual_agent HGNC:6343 MONDO:0014738 NCBIGene:91662 biolink:gene_associated_with_condition MONDO:0012724 infores:ubergraph knowledge_assertion manual_agent HGNC:22938 MONDO:0012724 NCBIGene:22866 biolink:gene_associated_with_condition MONDO:0030909 infores:clingen NCBIGene:22866 MONDO:0030909 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7369 biolink:gene_associated_with_condition MONDO:0008264 infores:clingen HGNC:12559 MONDO:0008264 Definitive 2021-01-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39233b4e-a491-47b4-8407-2e15dda89221-2021-01-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2937 biolink:gene_associated_with_condition MONDO:0017909 infores:clingen HGNC:4624 MONDO:0017909 Definitive 2019-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69a8e645-0e10-4ea9-8545-212ce9b0dcbf-2019-04-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8526 biolink:gene_associated_with_condition MONDO:0002461 infores:clingen HGNC:2852 MONDO:0002461 Definitive 2025-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99d5772a-c32d-4f71-a67c-8820d13e703c-2025-04-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10847 biolink:gene_associated_with_condition MONDO:0859202 infores:ubergraph knowledge_assertion manual_agent HGNC:16974 MONDO:0859202 NCBIGene:5265 biolink:gene_associated_with_condition MONDO:0013282 infores:clingen NCBIGene:5265 MONDO:0013282 Gene associated with autosomal recessive phenotype 30 NCBIGene:9573 biolink:gene_associated_with_condition MONDO:0013377 infores:ubergraph knowledge_assertion manual_agent HGNC:4218 MONDO:0013377 NCBIGene:90678 biolink:gene_associated_with_condition MONDO:0013753 infores:ubergraph knowledge_assertion manual_agent HGNC:25135 MONDO:0013753 NCBIGene:286887 biolink:gene_associated_with_condition MONDO:0014327 infores:ubergraph knowledge_assertion manual_agent HGNC:20406 MONDO:0014327 NCBIGene:57724 biolink:gene_associated_with_condition MONDO:0009452 infores:ubergraph knowledge_assertion manual_agent HGNC:29331 MONDO:0009452 NCBIGene:148022 biolink:gene_associated_with_condition MONDO:0013921 infores:ubergraph knowledge_assertion manual_agent HGNC:18348 MONDO:0013921 NCBIGene:3977 biolink:gene_associated_with_condition MONDO:0800043 infores:ubergraph knowledge_assertion manual_agent HGNC:6597 MONDO:0800043 NCBIGene:8671 biolink:gene_associated_with_condition MONDO:0011422 infores:ubergraph knowledge_assertion manual_agent HGNC:11030 MONDO:0011422 NCBIGene:345643 biolink:gene_associated_with_condition MONDO:0032872 infores:clingen HGNC:40050 MONDO:0032872 Definitive 2022-12-29T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_866c87d2-9c7d-4f5e-bd7f-358d8e44fa54-2022-12-29T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:94005 biolink:gene_associated_with_condition MONDO:0029140 infores:ubergraph knowledge_assertion manual_agent HGNC:14937 MONDO:0029140 NCBIGene:6655 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:11188 MONDO:0018997 Definitive 2020-08-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f20a1034-e29d-49bb-aed9-b4ba63dc5968-2020-08-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:89910 biolink:gene_associated_with_condition MONDO:0009485 infores:clingen NCBIGene:89910 MONDO:0009485 Definitive 2021-07-30T13:03:54.346Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5604d13c-a46a-4a83-87ec-e4e94bbed3f0-2021-07-30T130354.346Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2535 biolink:gene_associated_with_condition MONDO:0008123 infores:ubergraph knowledge_assertion manual_agent HGNC:4040 MONDO:0008123 NCBIGene:5660 biolink:gene_associated_with_condition MONDO:0012720 infores:clingen HGNC:9498 MONDO:0012720 Moderate 2025-09-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3b621df-e104-4d9e-bd9b-f60dd6a40182-2025-09-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0012539 infores:ubergraph knowledge_assertion manual_agent HGNC:28396 MONDO:0012539 NCBIGene:30062 biolink:gene_associated_with_condition MONDO:0012604 infores:ubergraph knowledge_assertion manual_agent HGNC:18662 MONDO:0012604 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1294 MONDO:0700096 true Gene associated with autosomal recessive phenotype 30 NCBIGene:283417 biolink:gene_associated_with_condition MONDO:0013505 infores:ubergraph knowledge_assertion manual_agent HGNC:19414 MONDO:0013505 NCBIGene:4487 biolink:gene_associated_with_condition MONDO:0008582 infores:ubergraph knowledge_assertion manual_agent HGNC:7391 MONDO:0008582 NCBIGene:4087 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4087 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51271 biolink:gene_associated_with_condition MONDO:0032737 infores:ubergraph knowledge_assertion manual_agent HGNC:12461 MONDO:0032737 NCBIGene:1890 biolink:gene_associated_with_condition MONDO:0011283 infores:clingen NCBIGene:1890 MONDO:0011283 Gene associated with autosomal recessive phenotype 30 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0976269 infores:ubergraph knowledge_assertion manual_agent HGNC:29077 MONDO:0976269 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007412 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0007412 NCBIGene:5961 biolink:gene_associated_with_condition MONDO:1040055 infores:ubergraph knowledge_assertion manual_agent HGNC:9942 MONDO:1040055 NCBIGene:50814 biolink:gene_associated_with_condition MONDO:0010441 infores:clingen HGNC:13398 MONDO:0010441 Moderate 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d94406f0-a459-47ed-aabc-80c7b6be9293-2021-01-20T170000.000Z XL X-linked 0001417 NCBIGene:6654 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:11187 MONDO:0018997 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9781b6bf-9b1e-4a10-a0a9-7e56562a6e3a-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:120892 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:18618 MONDO:0005180 Definitive 2021-05-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2728e13a-b95a-4c55-8cba-082260094ecd-2021-05-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6910 biolink:gene_associated_with_condition MONDO:0007732 infores:clingen NCBIGene:6910 MONDO:0007732 Definitive 2025-03-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24e6c85a-33cf-4248-be1f-6431c7c6b1e5-2025-03-25T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57038 biolink:gene_associated_with_condition MONDO:0012683 infores:ubergraph knowledge_assertion manual_agent HGNC:21406 MONDO:0012683 NCBIGene:501 biolink:gene_associated_with_condition MONDO:0020741 infores:ubergraph knowledge_assertion manual_agent HGNC:877 MONDO:0020741 NCBIGene:8842 biolink:gene_associated_with_condition MONDO:1040056 infores:ubergraph knowledge_assertion manual_agent HGNC:9454 MONDO:1040056 NCBIGene:8086 biolink:gene_associated_with_condition MONDO:0009279 infores:ubergraph knowledge_assertion manual_agent HGNC:13666 MONDO:0009279 NCBIGene:5442 biolink:gene_associated_with_condition MONDO:0859228 infores:ubergraph knowledge_assertion manual_agent HGNC:9200 MONDO:0859228 NCBIGene:8665 biolink:gene_associated_with_condition MONDO:0032662 infores:ubergraph knowledge_assertion manual_agent HGNC:3275 MONDO:0032662 NCBIGene:5422 biolink:gene_associated_with_condition MONDO:0010523 infores:clingen HGNC:9173 MONDO:0010523 Moderate 2025-02-20T12:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_363bfc6f-748a-4310-8006-dea67415dee0-2025-02-20T120000.000Z XL X-linked 0001417 NCBIGene:23363 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23363 MONDO:0700096 No evidence available 0 true NCBIGene:57215 biolink:gene_associated_with_condition MONDO:0016826 infores:clingen HGNC:23194 MONDO:0016826 Limited 2024-02-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6976fdb2-7650-46b7-887c-454666f23bc8-2024-02-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:92002 biolink:gene_associated_with_condition MONDO:0010408 infores:clingen NCBIGene:92002 MONDO:0010408 Moderate 2024-07-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23aca7cf-8896-4a9d-a40b-94b6c8f18398-2024-07-19T160000.000Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:473 biolink:gene_associated_with_condition MONDO:0014857 infores:ubergraph knowledge_assertion manual_agent HGNC:9965 MONDO:0014857 NCBIGene:55737 biolink:gene_associated_with_condition MONDO:0013625 infores:ubergraph knowledge_assertion manual_agent HGNC:13487 MONDO:0013625 NCBIGene:4645 biolink:gene_associated_with_condition MONDO:0030810 infores:ubergraph knowledge_assertion manual_agent HGNC:7603 MONDO:0030810 NCBIGene:55651 biolink:gene_associated_with_condition MONDO:0013519 infores:ubergraph knowledge_assertion manual_agent HGNC:14377 MONDO:0013519 NCBIGene:64116 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:20862 MONDO:0009723 Limited 2020-11-23T19:51:04.867Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fddaae4-d982-49e7-9e83-b84d15f3cf2c-2020-11-23T195104.867Z AR Autosomal Recessive 0000007 NCBIGene:121340 biolink:gene_associated_with_condition MONDO:0013460 infores:ubergraph knowledge_assertion manual_agent HGNC:17321 MONDO:0013460 NCBIGene:2153 biolink:gene_associated_with_condition MONDO:0013727 infores:ubergraph knowledge_assertion manual_agent HGNC:3542 MONDO:0013727 NCBIGene:1019 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1019 MONDO:0700096 No evidence available 0 true NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0019171 infores:clingen HGNC:10593 MONDO:0019171 Definitive 2018-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab19e69c-50fb-41e3-8adf-4d27617f3d55-2018-09-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54928 biolink:gene_associated_with_condition MONDO:0013561 infores:ubergraph knowledge_assertion manual_agent HGNC:26019 MONDO:0013561 NCBIGene:340533 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:340533 MONDO:0700096 No evidence available 0 true NCBIGene:6418 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen NCBIGene:6418 MONDO:0001071 Definitive 2021-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d7c9aa2-0a9a-4359-af98-6097cc6a3b91-2021-11-17T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2628 biolink:gene_associated_with_condition MONDO:0012996 infores:ubergraph knowledge_assertion manual_agent HGNC:4175 MONDO:0012996 NCBIGene:6775 biolink:gene_associated_with_condition MONDO:0957497 infores:ubergraph knowledge_assertion manual_agent HGNC:11365 MONDO:0957497 NCBIGene:222662 biolink:gene_associated_with_condition MONDO:0012460 infores:ubergraph knowledge_assertion manual_agent HGNC:21253 MONDO:0012460 NCBIGene:63915 biolink:gene_associated_with_condition MONDO:0030903 infores:clingen HGNC:18561 MONDO:0030903 Definitive 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85cca8f5-d263-42c4-b84a-2d49deeee682-2023-09-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0008222 infores:ubergraph knowledge_assertion manual_agent HGNC:6263 MONDO:0008222 NCBIGene:5745 biolink:gene_associated_with_condition MONDO:0007982 infores:ubergraph knowledge_assertion manual_agent HGNC:9608 MONDO:0007982 NCBIGene:6573 biolink:gene_associated_with_condition MONDO:0957955 infores:ubergraph knowledge_assertion manual_agent HGNC:10937 MONDO:0957955 NCBIGene:93183 biolink:gene_associated_with_condition MONDO:0012465 infores:ubergraph knowledge_assertion manual_agent HGNC:18858 MONDO:0012465 NCBIGene:8763 biolink:gene_associated_with_condition MONDO:0014854 infores:ubergraph knowledge_assertion manual_agent HGNC:1632 MONDO:0014854 NCBIGene:2130 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:3508 MONDO:0004976 Disputed 2022-10-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e210cfa-3eb4-4f9b-ad0c-67cfae624029-2022-10-11T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:1285 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1285 MONDO:0700096 No evidence available 0 true NCBIGene:6440 biolink:gene_associated_with_condition MONDO:0018603 infores:ubergraph knowledge_assertion manual_agent HGNC:10802 MONDO:0018603 NCBIGene:9320 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9320 MONDO:0700096 No evidence available 0 true NCBIGene:1617 biolink:gene_associated_with_condition MONDO:0042605 infores:ubergraph knowledge_assertion manual_agent HGNC:2682 MONDO:0042605 NCBIGene:10324 biolink:gene_associated_with_condition MONDO:0014326 infores:clingen HGNC:16905 MONDO:0014326 Moderate 2024-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6bd51c2-e7b8-4938-a700-fd0e393143a7-2024-10-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6900 biolink:gene_associated_with_condition MONDO:0014167 infores:clingen NCBIGene:6900 MONDO:0014167 Gene associated with autosomal recessive phenotype 30 NCBIGene:54361 biolink:gene_associated_with_condition MONDO:0012734 infores:ubergraph knowledge_assertion manual_agent HGNC:12783 MONDO:0012734 NCBIGene:23135 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23135 MONDO:0700096 No evidence available 0 true NCBIGene:1409 biolink:gene_associated_with_condition MONDO:0011413 infores:ubergraph knowledge_assertion manual_agent HGNC:2388 MONDO:0011413 NCBIGene:2737 biolink:gene_associated_with_condition MONDO:0007804 infores:ubergraph knowledge_assertion manual_agent HGNC:4319 MONDO:0007804 NCBIGene:23149 biolink:gene_associated_with_condition MONDO:0030898 infores:clingen HGNC:29002 MONDO:0030898 Definitive 2023-07-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae21f2b2-e283-404b-9517-74fad00a352a-2023-07-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10641 biolink:gene_associated_with_condition MONDO:0005384 infores:clingen HGNC:24969 MONDO:0005384 Definitive 2023-07-18T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f386a6d-0a4a-4474-b9ad-586712395b8d-2023-07-18T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:55628 biolink:gene_associated_with_condition MONDO:0859198 infores:ubergraph knowledge_assertion manual_agent HGNC:19904 MONDO:0859198 NCBIGene:51780 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:1337 MONDO:0000508 Definitive 2024-02-21T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4be69167-24df-4a3b-81c7-429399d0c727-2024-02-21T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:29998 biolink:gene_associated_with_condition MONDO:0025699 infores:ubergraph knowledge_assertion manual_agent HGNC:4332 MONDO:0025699 NCBIGene:8312 biolink:gene_associated_with_condition MONDO:0011928 infores:ubergraph knowledge_assertion manual_agent HGNC:903 MONDO:0011928 NCBIGene:5034 biolink:gene_associated_with_condition MONDO:0007204 infores:ubergraph knowledge_assertion manual_agent HGNC:8548 MONDO:0007204 NCBIGene:7201 biolink:gene_associated_with_condition MONDO:0032819 infores:clingen NCBIGene:7201 MONDO:0032819 Gene associated with autosomal recessive phenotype 30 NCBIGene:2773 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2773 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51360 biolink:gene_associated_with_condition MONDO:0010637 infores:ubergraph knowledge_assertion manual_agent HGNC:15455 MONDO:0010637 NCBIGene:56479 biolink:gene_associated_with_condition MONDO:0030911 infores:ubergraph knowledge_assertion manual_agent HGNC:6299 MONDO:0030911 NCBIGene:2625 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2625 MONDO:0700096 No evidence available 0 true NCBIGene:6342 biolink:gene_associated_with_condition MONDO:0013391 infores:ubergraph knowledge_assertion manual_agent HGNC:10606 MONDO:0013391 NCBIGene:25839 biolink:gene_associated_with_condition MONDO:0019407 infores:ubergraph knowledge_assertion manual_agent HGNC:18620 MONDO:0019407 NCBIGene:1536 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1536 MONDO:0700096 No evidence available 0 true NCBIGene:7920 biolink:gene_associated_with_condition MONDO:0030673 infores:ubergraph knowledge_assertion manual_agent HGNC:13921 MONDO:0030673 NCBIGene:339453 biolink:gene_associated_with_condition MONDO:0011833 infores:ubergraph knowledge_assertion manual_agent HGNC:25186 MONDO:0011833 NCBIGene:3098 biolink:gene_associated_with_condition MONDO:0011534 infores:ubergraph knowledge_assertion manual_agent HGNC:4922 MONDO:0011534 NCBIGene:378884 biolink:gene_associated_with_condition MONDO:0800306 infores:ubergraph knowledge_assertion manual_agent HGNC:21576 MONDO:0800306 NCBIGene:169522 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:19698 MONDO:0019118 Definitive 2023-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b260eab0-c2ff-405c-b720-c223ed6307e9-2023-09-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23118 biolink:gene_associated_with_condition MONDO:0014000 infores:clingen NCBIGene:23118 MONDO:0014000 true Little evidence for dosage pathogenicity 1 NCBIGene:2516 biolink:gene_associated_with_condition MONDO:0060489 infores:ubergraph knowledge_assertion manual_agent HGNC:7983 MONDO:0060489 NCBIGene:4976 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:8140 MONDO:0009723 Moderate 2021-06-14T15:21:17.821Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e72abd1-4b0a-4f66-b681-7a51d4467026-2021-06-14T152117.821Z AR Autosomal Recessive 0000007 NCBIGene:1140 biolink:gene_associated_with_condition MONDO:0014582 infores:ubergraph knowledge_assertion manual_agent HGNC:1961 MONDO:0014582 NCBIGene:284058 biolink:gene_associated_with_condition MONDO:0012496 infores:ubergraph knowledge_assertion manual_agent HGNC:24565 MONDO:0012496 NCBIGene:755 biolink:gene_associated_with_condition MONDO:0011211 infores:ubergraph knowledge_assertion manual_agent HGNC:1260 MONDO:0011211 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010233 infores:clingen NCBIGene:2316 MONDO:0010233 Sufficient evidence for dosage pathogenicity 3 NCBIGene:670 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:670 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:284111 biolink:gene_associated_with_condition MONDO:0014392 infores:clingen NCBIGene:284111 MONDO:0014392 Gene associated with autosomal recessive phenotype 30 NCBIGene:9241 biolink:gene_associated_with_condition MONDO:0100521 infores:ubergraph knowledge_assertion manual_agent HGNC:7866 MONDO:0100521 NCBIGene:8556 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:1718 MONDO:0019497 Definitive 2025-02-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e869e4b1-30e2-4d9b-9b69-124903d7b307-2025-02-25T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23430 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23430 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:9215 biolink:gene_associated_with_condition MONDO:0018276 infores:clingen NCBIGene:9215 MONDO:0018276 Definitive 2024-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98beb148-70ee-4448-8d53-12c26fddf855-2024-07-02T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:105371045 biolink:gene_associated_with_condition MONDO:0032857 infores:ubergraph knowledge_assertion manual_agent HGNC:52293 MONDO:0032857 NCBIGene:6688 biolink:gene_associated_with_condition MONDO:0030529 infores:ubergraph knowledge_assertion manual_agent HGNC:11241 MONDO:0030529 NCBIGene:55065 biolink:gene_associated_with_condition MONDO:0014013 infores:clingen HGNC:30225 MONDO:0014013 Moderate 2024-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f44e2049-ade2-464c-a4e5-eaf851252082-2024-04-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10566 biolink:gene_associated_with_condition MONDO:0957249 infores:ubergraph knowledge_assertion manual_agent HGNC:373 MONDO:0957249 NCBIGene:23245 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23245 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:91782 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91782 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:56947 biolink:gene_associated_with_condition MONDO:0054865 infores:clingen HGNC:24858 MONDO:0054865 Moderate 2024-06-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_021d15d7-dbf0-4b71-bbb5-48dc4a4b5ee6-2024-06-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9529 biolink:gene_associated_with_condition MONDO:0030680 infores:ubergraph knowledge_assertion manual_agent HGNC:941 MONDO:0030680 NCBIGene:57449 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57449 MONDO:0700096 No evidence available 0 true NCBIGene:50939 biolink:gene_associated_with_condition MONDO:0700241 infores:ubergraph knowledge_assertion manual_agent HGNC:18362 MONDO:0700241 NCBIGene:2779 biolink:gene_associated_with_condition MONDO:0014614 infores:ubergraph knowledge_assertion manual_agent HGNC:4393 MONDO:0014614 NCBIGene:126792 biolink:gene_associated_with_condition MONDO:0010075 infores:clingen NCBIGene:126792 MONDO:0010075 Gene associated with autosomal recessive phenotype 30 NCBIGene:2702 biolink:gene_associated_with_condition MONDO:0013544 infores:ubergraph knowledge_assertion manual_agent HGNC:4279 MONDO:0013544 NCBIGene:84233 biolink:gene_associated_with_condition MONDO:0013069 infores:ubergraph knowledge_assertion manual_agent HGNC:25382 MONDO:0013069 NCBIGene:10585 biolink:gene_associated_with_condition MONDO:0700070 infores:clingen NCBIGene:10585 MONDO:0700070 Definitive 2024-07-26T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_146ee85f-a6c2-468f-aacb-a320767de36e-2024-07-26T063000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:117581 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:117581 MONDO:0700096 No evidence available 0 true NCBIGene:70 biolink:gene_associated_with_condition MONDO:0013261 infores:ubergraph knowledge_assertion manual_agent HGNC:143 MONDO:0013261 NCBIGene:5354 biolink:gene_associated_with_condition MONDO:0010714 infores:ubergraph knowledge_assertion manual_agent HGNC:9086 MONDO:0010714 NCBIGene:1802 biolink:gene_associated_with_condition MONDO:0100217 infores:ubergraph knowledge_assertion manual_agent HGNC:3004 MONDO:0100217 NCBIGene:2165 biolink:gene_associated_with_condition MONDO:0013190 infores:ubergraph knowledge_assertion manual_agent HGNC:3534 MONDO:0013190 NCBIGene:10907 biolink:gene_associated_with_condition MONDO:0012064 infores:ubergraph knowledge_assertion manual_agent HGNC:30551 MONDO:0012064 NCBIGene:80821 biolink:gene_associated_with_condition MONDO:0019064 infores:clingen HGNC:19714 MONDO:0019064 Definitive 2022-12-01T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba9bbb1-e36f-41db-9e56-23496613e46d-2022-12-01T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:3630 biolink:gene_associated_with_condition MONDO:0030089 infores:ubergraph knowledge_assertion manual_agent HGNC:6081 MONDO:0030089 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0013248 infores:clingen HGNC:9820 MONDO:0013248 Limited 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea7ea36f-955c-4478-b5f6-12ff0a0dbf0b-2023-12-20T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:348980 biolink:gene_associated_with_condition MONDO:0014377 infores:ubergraph knowledge_assertion manual_agent HGNC:4845 MONDO:0014377 NCBIGene:10054 biolink:gene_associated_with_condition MONDO:0859262 infores:clingen HGNC:30661 MONDO:0859262 Definitive 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b140d1b-eef8-4711-87ff-96e660e79c18-2024-09-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2799 biolink:gene_associated_with_condition MONDO:0009658 infores:clingen NCBIGene:2799 MONDO:0009658 Definitive 2022-09-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63312833-baef-4b11-9769-c93957decef6-2022-09-02T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4327 biolink:gene_associated_with_condition MONDO:0012687 infores:ubergraph knowledge_assertion manual_agent HGNC:7165 MONDO:0012687 NCBIGene:9927 biolink:gene_associated_with_condition MONDO:0014906 infores:ubergraph knowledge_assertion manual_agent HGNC:16877 MONDO:0014906 NCBIGene:3663 biolink:gene_associated_with_condition MONDO:0012832 infores:ubergraph knowledge_assertion manual_agent HGNC:6120 MONDO:0012832 NCBIGene:123169 biolink:gene_associated_with_condition MONDO:0700092 infores:clingen NCBIGene:123169 MONDO:0700092 true Little evidence for dosage pathogenicity 1 NCBIGene:59345 biolink:gene_associated_with_condition MONDO:0014074 infores:ubergraph knowledge_assertion manual_agent HGNC:20731 MONDO:0014074 NCBIGene:4854 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:7883 MONDO:0015924 Disputed 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d59e2823-a923-4c3e-8976-c3451eaa8666-2022-11-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7424 biolink:gene_associated_with_condition MONDO:0035500 infores:ubergraph knowledge_assertion manual_agent HGNC:12682 MONDO:0035500 NCBIGene:7020 biolink:gene_associated_with_condition MONDO:0007235 infores:ubergraph knowledge_assertion manual_agent HGNC:11742 MONDO:0007235 NCBIGene:55687 biolink:gene_associated_with_condition MONDO:0010799 infores:ubergraph knowledge_assertion manual_agent HGNC:25481 MONDO:0010799 NCBIGene:92002 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:92002 MONDO:0700096 No evidence available 0 true NCBIGene:23630 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:6241 MONDO:0015263 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10153 AD Autosomal Dominant 0000006 NCBIGene:54567 biolink:gene_associated_with_condition MONDO:0014703 infores:ubergraph knowledge_assertion manual_agent HGNC:2910 MONDO:0014703 NCBIGene:55869 biolink:gene_associated_with_condition MONDO:0010471 infores:clingen NCBIGene:55869 MONDO:0010471 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7148 biolink:gene_associated_with_condition MONDO:0014422 infores:ubergraph knowledge_assertion manual_agent HGNC:11976 MONDO:0014422 NCBIGene:9533 biolink:gene_associated_with_condition MONDO:0009558 infores:clingen HGNC:20194 MONDO:0009558 Moderate 2023-07-20T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4708b2e-ed95-481c-a1db-1eeb12f6c0b0-2023-07-20T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:6777 biolink:gene_associated_with_condition MONDO:0100219 infores:ubergraph knowledge_assertion manual_agent HGNC:11367 MONDO:0100219 NCBIGene:2623 biolink:gene_associated_with_condition MONDO:0010308 infores:ubergraph knowledge_assertion manual_agent HGNC:4170 MONDO:0010308 NCBIGene:9842 biolink:gene_associated_with_condition MONDO:0020848 infores:clingen HGNC:29017 MONDO:0020848 Limited 2024-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_831aa283-9525-422c-8a73-14217d9222ad-2024-03-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3720 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3720 MONDO:0700096 No evidence available 0 true NCBIGene:2903 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2903 MONDO:0700096 No evidence available 0 true NCBIGene:2296 biolink:gene_associated_with_condition MONDO:0011233 infores:clingen NCBIGene:2296 MONDO:0011233 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3482 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3482 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:169792 biolink:gene_associated_with_condition MONDO:0012436 infores:ubergraph knowledge_assertion manual_agent HGNC:28510 MONDO:0012436 NCBIGene:1355 biolink:gene_associated_with_condition MONDO:0014051 infores:clingen NCBIGene:1355 MONDO:0014051 Gene associated with autosomal recessive phenotype 30 NCBIGene:9987 biolink:gene_associated_with_condition MONDO:0015151 infores:clingen NCBIGene:9987 MONDO:0015151 Definitive 2025-01-14T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c69d38-c981-4679-81ab-c656f435e1ed-2025-01-14T050000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:146862 biolink:gene_associated_with_condition MONDO:0014565 infores:ubergraph knowledge_assertion manual_agent HGNC:14304 MONDO:0014565 NCBIGene:10484 biolink:gene_associated_with_condition MONDO:0011911 infores:ubergraph knowledge_assertion manual_agent HGNC:10701 MONDO:0011911 NCBIGene:4620 biolink:gene_associated_with_condition MONDO:0011577 infores:clingen HGNC:7572 MONDO:0011577 Moderate 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76685544-e687-4b2e-8656-2960d0324eee-2024-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2355 biolink:gene_associated_with_condition MONDO:0968978 infores:ubergraph knowledge_assertion manual_agent HGNC:3798 MONDO:0968978 NCBIGene:5322 biolink:gene_associated_with_condition MONDO:0009235 infores:ubergraph knowledge_assertion manual_agent HGNC:9038 MONDO:0009235 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0012848 infores:ubergraph knowledge_assertion manual_agent HGNC:29253 MONDO:0012848 NCBIGene:5205 biolink:gene_associated_with_condition MONDO:0009469 infores:ubergraph knowledge_assertion manual_agent HGNC:3706 MONDO:0009469 NCBIGene:7503 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7503 MONDO:0700096 No evidence available 0 true NCBIGene:160335 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:25440 MONDO:0019497 Disputed 2022-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e56b4d6-4947-4de5-a3a7-373145019239-2022-04-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:25793 biolink:gene_associated_with_condition MONDO:0009830 infores:clingen NCBIGene:25793 MONDO:0009830 Gene associated with autosomal recessive phenotype 30 NCBIGene:1399 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1399 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:79583 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79583 MONDO:0700096 No evidence available 0 true NCBIGene:22906 biolink:gene_associated_with_condition MONDO:0032598 infores:ubergraph knowledge_assertion manual_agent HGNC:29947 MONDO:0032598 NCBIGene:79738 biolink:gene_associated_with_condition MONDO:0700237 infores:ubergraph knowledge_assertion manual_agent HGNC:26291 MONDO:0700237 NCBIGene:51082 biolink:gene_associated_with_condition MONDO:0013385 infores:clingen NCBIGene:51082 MONDO:0013385 Definitive 2022-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be9f1e40-dd42-40af-a429-6f4cfd74a7c2-2022-12-15T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:35 biolink:gene_associated_with_condition MONDO:0008722 infores:ubergraph knowledge_assertion manual_agent HGNC:90 MONDO:0008722 NCBIGene:2737 biolink:gene_associated_with_condition MONDO:0008272 infores:ubergraph knowledge_assertion manual_agent HGNC:4319 MONDO:0008272 NCBIGene:1441 biolink:gene_associated_with_condition MONDO:0014865 infores:ubergraph knowledge_assertion manual_agent HGNC:2439 MONDO:0014865 NCBIGene:6529 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6529 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5604 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6688 biolink:gene_associated_with_condition MONDO:0030529 infores:clingen HGNC:11241 MONDO:0030529 Definitive 2024-12-12T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76a93861-b7d3-4d08-8882-6a7a1456b51a-2024-12-12T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:6444 biolink:gene_associated_with_condition MONDO:0016144 infores:ubergraph knowledge_assertion manual_agent HGNC:10807 MONDO:0016144 NCBIGene:55213 biolink:gene_associated_with_condition MONDO:0014955 infores:clingen HGNC:18243 MONDO:0014955 Definitive 2022-06-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f356649e-e6d6-4ab6-9e78-3774404794ff-2022-06-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8139 biolink:gene_associated_with_condition MONDO:0009749 infores:clingen NCBIGene:8139 MONDO:0009749 Definitive 2022-02-10T02:12:39.651Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9f65afa-5cb1-457e-abff-ab110145a32d-2022-02-10T021239.651Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7422 biolink:gene_associated_with_condition MONDO:0011386 infores:ubergraph knowledge_assertion manual_agent HGNC:12680 MONDO:0011386 NCBIGene:9380 biolink:gene_associated_with_condition MONDO:0009824 infores:clingen NCBIGene:9380 MONDO:0009824 Gene associated with autosomal recessive phenotype 30 NCBIGene:1991 biolink:gene_associated_with_condition MONDO:0001475 infores:clingen HGNC:3309 MONDO:0001475 Definitive 2020-05-14T00:09:24.456Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_259c43d2-b114-43bd-9e4e-a7beeb644323-2020-05-14T000924.456Z AD Autosomal Dominant 0000006 NCBIGene:633 biolink:gene_associated_with_condition MONDO:0010248 infores:ubergraph knowledge_assertion manual_agent HGNC:1044 MONDO:0010248 NCBIGene:10973 biolink:gene_associated_with_condition MONDO:0958204 infores:ubergraph knowledge_assertion manual_agent HGNC:18697 MONDO:0958204 NCBIGene:5253 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5253 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:96459 biolink:gene_associated_with_condition MONDO:0100432 infores:clingen HGNC:29418 MONDO:0100432 Definitive 2024-11-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25c930ed-965b-47ae-b9c2-7157b06cb868-2024-11-26T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:144165 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:17019 MONDO:0020074 Limited 2025-07-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4e1195f-21ea-4721-b94b-99604e7c6554-2025-07-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4750 biolink:gene_associated_with_condition MONDO:0009894 infores:ubergraph knowledge_assertion manual_agent HGNC:7744 MONDO:0009894 NCBIGene:22930 biolink:gene_associated_with_condition MONDO:0030376 infores:ubergraph knowledge_assertion manual_agent HGNC:17063 MONDO:0030376 NCBIGene:815 biolink:gene_associated_with_condition MONDO:0030919 infores:clingen NCBIGene:815 MONDO:0030919 true Little evidence for dosage pathogenicity 1 NCBIGene:124454 biolink:gene_associated_with_condition MONDO:0013971 infores:clingen NCBIGene:124454 MONDO:0013971 Gene associated with autosomal recessive phenotype 30 NCBIGene:57165 biolink:gene_associated_with_condition MONDO:0013179 infores:ubergraph knowledge_assertion manual_agent HGNC:17494 MONDO:0013179 NCBIGene:89765 biolink:gene_associated_with_condition MONDO:0014202 infores:ubergraph knowledge_assertion manual_agent HGNC:12371 MONDO:0014202 NCBIGene:801 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:1442 MONDO:0002442 Definitive 2018-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a150cd9-e16b-4992-8cc7-5ccec44b4d6b-2018-09-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5426 biolink:gene_associated_with_condition MONDO:0100287 infores:clingen HGNC:9177 MONDO:0100287 Definitive 2023-07-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b5306f4-0422-42fc-9f67-2d9b263e4e1e-2023-07-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0007793 infores:clingen HGNC:3690 MONDO:0007793 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_518a0eb2-f7ea-40e8-acad-afc34f5b188e-2023-09-28T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:3748 biolink:gene_associated_with_condition MONDO:0011529 infores:ubergraph knowledge_assertion manual_agent HGNC:6235 MONDO:0011529 NCBIGene:9247 biolink:gene_associated_with_condition MONDO:0020798 infores:ubergraph knowledge_assertion manual_agent HGNC:4198 MONDO:0020798 NCBIGene:63035 biolink:gene_associated_with_condition MONDO:0026727 infores:clingen HGNC:25657 MONDO:0026727 Limited 2024-03-05T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cc118e0-37b5-408c-9c91-ed0828997a1d-2024-03-05T070000.000Z XL X-linked 0001417 NCBIGene:200403 biolink:gene_associated_with_condition MONDO:0014845 infores:ubergraph knowledge_assertion manual_agent HGNC:28385 MONDO:0014845 NCBIGene:54800 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:25947 MONDO:0005045 Moderate 2023-09-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1d4ce43-4c2d-41a0-b821-a11ac8eb8fca-2023-09-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:134218 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:134218 MONDO:0700096 No evidence available 0 true NCBIGene:3587 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3587 MONDO:0700096 No evidence available 0 true NCBIGene:1387 biolink:gene_associated_with_condition MONDO:0020763 infores:ubergraph knowledge_assertion manual_agent HGNC:2348 MONDO:0020763 NCBIGene:3664 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3664 MONDO:0700096 No evidence available 0 true NCBIGene:123872 biolink:gene_associated_with_condition MONDO:0013174 infores:clingen NCBIGene:123872 MONDO:0013174 Definitive 2023-03-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41e4b8cd-35bd-4e99-ba2d-606f191a13cf-2023-03-09T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23013 biolink:gene_associated_with_condition MONDO:0859143 infores:ubergraph knowledge_assertion manual_agent HGNC:17575 MONDO:0859143 NCBIGene:3757 biolink:gene_associated_with_condition MONDO:0013367 infores:ubergraph knowledge_assertion manual_agent HGNC:6251 MONDO:0013367 NCBIGene:64093 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64093 MONDO:0700096 No evidence available 0 true NCBIGene:287 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen HGNC:493 MONDO:0017990 Disputed 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7e5e43e-1596-4c15-bf14-e9388b204e88-2021-01-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1000 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:1759 MONDO:0016587 Limited 2018-07-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7a03805-bf73-4d2d-9756-c666c67be119-2018-07-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7355 biolink:gene_associated_with_condition MONDO:0010478 infores:ubergraph knowledge_assertion manual_agent HGNC:11022 MONDO:0010478 NCBIGene:57526 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57526 MONDO:0700096 No evidence available 0 true Sufficient evidence for dosage pathogenicity 3 NCBIGene:27161 biolink:gene_associated_with_condition MONDO:0030897 infores:ubergraph knowledge_assertion manual_agent HGNC:3263 MONDO:0030897 NCBIGene:4572 biolink:gene_associated_with_condition MONDO:0800033 infores:ubergraph knowledge_assertion manual_agent HGNC:7495 MONDO:0800033 NCBIGene:11136 biolink:gene_associated_with_condition MONDO:0009067 infores:clingen NCBIGene:11136 MONDO:0009067 Definitive 2020-06-29T17:44:26.491Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8e706c5-4b10-4c8a-b5ab-dda8545f464a-2020-06-29T174426.491Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:123803 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:123803 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23512 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23512 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:11077 biolink:gene_associated_with_condition MONDO:0030985 infores:ubergraph knowledge_assertion manual_agent HGNC:5226 MONDO:0030985 NCBIGene:224 biolink:gene_associated_with_condition MONDO:0010031 infores:clingen NCBIGene:224 MONDO:0010031 Gene associated with autosomal recessive phenotype 30 NCBIGene:7414 biolink:gene_associated_with_condition MONDO:0012667 infores:ubergraph knowledge_assertion manual_agent HGNC:12665 MONDO:0012667 NCBIGene:3508 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3508 MONDO:0700096 No evidence available 0 true NCBIGene:6663 biolink:gene_associated_with_condition MONDO:0013202 infores:clingen NCBIGene:6663 MONDO:0013202 Definitive 2018-06-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a5b707-a265-4af0-a7e1-f15734ea42b9-2018-06-19T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:160418 biolink:gene_associated_with_condition MONDO:0014992 infores:ubergraph knowledge_assertion manual_agent HGNC:26899 MONDO:0014992 NCBIGene:1761 biolink:gene_associated_with_condition MONDO:0002145 infores:clingen NCBIGene:1761 MONDO:0002145 true Little evidence for dosage pathogenicity 1 NCBIGene:4597 biolink:gene_associated_with_condition MONDO:0013868 infores:ubergraph knowledge_assertion manual_agent HGNC:7529 MONDO:0013868 NCBIGene:23077 biolink:gene_associated_with_condition MONDO:1060117 infores:ubergraph knowledge_assertion manual_agent HGNC:23386 MONDO:1060117 NCBIGene:91647 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91647 MONDO:0700096 No evidence available 0 true NCBIGene:4436 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen NCBIGene:4436 MONDO:0005835 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f3acd9a-e2e5-498a-8974-399969ffa2d1-2022-06-20T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:11231 biolink:gene_associated_with_condition MONDO:0014860 infores:clingen HGNC:21082 MONDO:0014860 Definitive 2020-09-23T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76312e16-e3b1-400a-8a22-4c0cca5e6918-2020-09-23T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:23112 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23112 MONDO:0100038 Definitive 2021-01-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a806c490-788f-49b6-b437-6970f5888c07-2021-01-06T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8792 biolink:gene_associated_with_condition MONDO:0011183 infores:ubergraph knowledge_assertion manual_agent HGNC:11908 MONDO:0011183 NCBIGene:23028 biolink:gene_associated_with_condition MONDO:0014751 infores:ubergraph knowledge_assertion manual_agent HGNC:29079 MONDO:0014751 NCBIGene:6468 biolink:gene_associated_with_condition MONDO:0009525 infores:clingen NCBIGene:6468 MONDO:0009525 No evidence available 0 true NCBIGene:2235 biolink:gene_associated_with_condition MONDO:0008319 infores:clingen HGNC:3647 MONDO:0008319 Definitive 2023-01-27T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1b6529d-0a99-4ffd-9bbf-6bc15d76cb10-2023-01-27T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:974 biolink:gene_associated_with_condition MONDO:0012987 infores:ubergraph knowledge_assertion manual_agent HGNC:1699 MONDO:0012987 NCBIGene:54897 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54897 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:9508 biolink:gene_associated_with_condition MONDO:0032564 infores:ubergraph knowledge_assertion manual_agent HGNC:219 MONDO:0032564 NCBIGene:83706 biolink:gene_associated_with_condition MONDO:0013016 infores:ubergraph knowledge_assertion manual_agent HGNC:23151 MONDO:0013016 NCBIGene:10265 biolink:gene_associated_with_condition MONDO:0012634 infores:ubergraph knowledge_assertion manual_agent HGNC:14361 MONDO:0012634 NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0020745 infores:ubergraph knowledge_assertion manual_agent HGNC:10484 MONDO:0020745 NCBIGene:2879 biolink:gene_associated_with_condition MONDO:0009593 infores:clingen NCBIGene:2879 MONDO:0009593 Gene associated with autosomal recessive phenotype 30 NCBIGene:57466 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:19304 MONDO:0100038 Definitive 2025-01-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa0ea325-5ca0-45f3-93c6-0cda1554be4f-2025-01-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23204 biolink:gene_associated_with_condition MONDO:0014304 infores:ubergraph knowledge_assertion manual_agent HGNC:697 MONDO:0014304 NCBIGene:760 biolink:gene_associated_with_condition MONDO:0009818 infores:ubergraph knowledge_assertion manual_agent HGNC:1373 MONDO:0009818 NCBIGene:5144 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5144 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3746 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3746 MONDO:0700096 No evidence available 0 true NCBIGene:7021 biolink:gene_associated_with_condition MONDO:1010098 infores:clingen HGNC:11743 MONDO:1010098 Definitive 2024-10-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da86355-6e52-4f93-b437-a970ae45df66-2024-10-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2073 biolink:gene_associated_with_condition MONDO:0014696 infores:ubergraph knowledge_assertion manual_agent HGNC:3437 MONDO:0014696 NCBIGene:9130 biolink:gene_associated_with_condition MONDO:0010284 infores:ubergraph knowledge_assertion manual_agent HGNC:18786 MONDO:0010284 NCBIGene:5238 biolink:gene_associated_with_condition MONDO:0014353 infores:ubergraph knowledge_assertion manual_agent HGNC:8907 MONDO:0014353 NCBIGene:5156 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5156 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:50945 biolink:gene_associated_with_condition MONDO:0010554 infores:ubergraph knowledge_assertion manual_agent HGNC:11600 MONDO:0010554 NCBIGene:50489 biolink:gene_associated_with_condition MONDO:0013251 infores:ubergraph knowledge_assertion manual_agent HGNC:17935 MONDO:0013251 NCBIGene:5087 biolink:gene_associated_with_condition MONDO:0060549 infores:clingen HGNC:8632 MONDO:0060549 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28186515-9751-4137-a631-5addc51461b9-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8642 biolink:gene_associated_with_condition MONDO:0011070 infores:ubergraph knowledge_assertion manual_agent HGNC:13681 MONDO:0011070 NCBIGene:10717 biolink:gene_associated_with_condition MONDO:0100176 infores:clingen HGNC:572 MONDO:0100176 Definitive 2021-07-25T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4436344a-e0da-4c42-b06a-cdf8a2581ce5-2021-07-25T220000.000Z AR Autosomal Recessive 0000007 NCBIGene:641 biolink:gene_associated_with_condition MONDO:0008876 infores:ubergraph knowledge_assertion manual_agent HGNC:1058 MONDO:0008876 NCBIGene:7535 biolink:gene_associated_with_condition MONDO:0014861 infores:ubergraph knowledge_assertion manual_agent HGNC:12858 MONDO:0014861 NCBIGene:51319 biolink:gene_associated_with_condition MONDO:0032729 infores:ubergraph knowledge_assertion manual_agent HGNC:24152 MONDO:0032729 NCBIGene:7172 biolink:gene_associated_with_condition MONDO:0012503 infores:ubergraph knowledge_assertion manual_agent HGNC:12014 MONDO:0012503 NCBIGene:9935 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9935 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0007221 infores:clingen NCBIGene:8200 MONDO:0007221 Sufficient evidence for dosage pathogenicity 3 NCBIGene:56652 biolink:gene_associated_with_condition MONDO:0010060 infores:ubergraph knowledge_assertion manual_agent HGNC:1160 MONDO:0010060 NCBIGene:6938 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6938 MONDO:0700096 No evidence available 0 true NCBIGene:124583 biolink:gene_associated_with_condition MONDO:0054680 infores:ubergraph knowledge_assertion manual_agent HGNC:19721 MONDO:0054680 NCBIGene:2821 biolink:gene_associated_with_condition MONDO:0013275 infores:ubergraph knowledge_assertion manual_agent HGNC:4458 MONDO:0013275 NCBIGene:100996717 biolink:gene_associated_with_condition MONDO:0011327 infores:ubergraph knowledge_assertion manual_agent HGNC:53924 MONDO:0011327 NCBIGene:54808 biolink:gene_associated_with_condition MONDO:0016761 infores:clingen NCBIGene:54808 MONDO:0016761 Gene associated with autosomal recessive phenotype 30 NCBIGene:10747 biolink:gene_associated_with_condition MONDO:0013423 infores:clingen NCBIGene:10747 MONDO:0013423 Gene associated with autosomal recessive phenotype 30 NCBIGene:89884 biolink:gene_associated_with_condition MONDO:0009880 infores:clingen NCBIGene:89884 MONDO:0009880 true Little evidence for dosage pathogenicity 1 NCBIGene:5880 biolink:gene_associated_with_condition MONDO:0011988 infores:clingen HGNC:9802 MONDO:0011988 Moderate 2021-12-21T13:50:17.284Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f415e195-889f-4812-becd-5b3e7fe6b84f-2021-12-21T135017.284Z AD Autosomal Dominant 0000006 NCBIGene:57817 biolink:gene_associated_with_condition MONDO:0013220 infores:ubergraph knowledge_assertion manual_agent HGNC:15598 MONDO:0013220 NCBIGene:2189 biolink:gene_associated_with_condition MONDO:0013565 infores:ubergraph knowledge_assertion manual_agent HGNC:3588 MONDO:0013565 NCBIGene:6794 biolink:gene_associated_with_condition MONDO:0008280 infores:ubergraph knowledge_assertion manual_agent HGNC:11389 MONDO:0008280 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0859577 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0859577 NCBIGene:777 biolink:gene_associated_with_condition MONDO:0032657 infores:ubergraph knowledge_assertion manual_agent HGNC:1392 MONDO:0032657 NCBIGene:114803 biolink:gene_associated_with_condition MONDO:0020856 infores:clingen NCBIGene:114803 MONDO:0020856 Definitive 2024-06-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee22e44c-4239-47f4-b971-c8b5012b8a1c-2024-06-07T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:60 MONDO:0005021 Limited 2024-11-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8be22ebc-f0f5-4de5-9c2a-382ebd02c533-2024-11-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:130340 biolink:gene_associated_with_condition MONDO:0014494 infores:ubergraph knowledge_assertion manual_agent HGNC:18971 MONDO:0014494 NCBIGene:57192 biolink:gene_associated_with_condition MONDO:0009653 infores:ubergraph knowledge_assertion manual_agent HGNC:13356 MONDO:0009653 NCBIGene:4982 biolink:gene_associated_with_condition MONDO:0009394 infores:ubergraph knowledge_assertion manual_agent HGNC:11909 MONDO:0009394 NCBIGene:6662 biolink:gene_associated_with_condition MONDO:0009869 infores:clingen HGNC:11204 MONDO:0009869 Limited 2024-08-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_951f7fcd-2b6a-46cd-be1d-7993ee5119c1-2024-08-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6100 biolink:gene_associated_with_condition MONDO:0008378 infores:ubergraph knowledge_assertion manual_agent HGNC:10288 MONDO:0008378 NCBIGene:7528 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:12856 MONDO:0100038 Definitive 2025-04-01T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_786d6432-d295-4aa7-ae94-99625f0d0ddb-2025-04-01T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:6927 biolink:gene_associated_with_condition MONDO:0010894 infores:clingen NCBIGene:6927 MONDO:0010894 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2395 biolink:gene_associated_with_condition MONDO:0100339 infores:clingen HGNC:3951 MONDO:0100339 Definitive 2017-12-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec3f674b-1e71-4254-a0f9-f8909becff59-2017-12-22T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:94005 biolink:gene_associated_with_condition MONDO:0029140 infores:clingen HGNC:14937 MONDO:0029140 Definitive 2025-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38cb0b29-5a46-44c4-a92b-67d69e3347c4-2025-06-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9914 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9914 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23545 biolink:gene_associated_with_condition MONDO:0018163 infores:clingen NCBIGene:23545 MONDO:0018163 Definitive 2024-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67eb6244-012c-48c0-a409-874636825d85-2024-04-03T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51002 biolink:gene_associated_with_condition MONDO:0033009 infores:ubergraph knowledge_assertion manual_agent HGNC:24259 MONDO:0033009 NCBIGene:84433 biolink:gene_associated_with_condition MONDO:0054697 infores:clingen HGNC:16393 MONDO:0054697 Definitive 2022-03-15T13:12:20.080Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_603e8c98-82b7-41b5-8174-1fdbfc724a7d-2022-03-15T131220.080Z AD Autosomal Dominant 0000006 NCBIGene:92840 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen NCBIGene:92840 MONDO:0019118 Definitive 2024-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b46e1df4-e37a-4b59-af69-d388c6dbc6a1-2024-07-11T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3236 biolink:gene_associated_with_condition MONDO:0008652 infores:ubergraph knowledge_assertion manual_agent HGNC:5133 MONDO:0008652 NCBIGene:4358 biolink:gene_associated_with_condition MONDO:0009747 infores:ubergraph knowledge_assertion manual_agent HGNC:7224 MONDO:0009747 NCBIGene:54112 biolink:gene_associated_with_condition MONDO:0014839 infores:ubergraph knowledge_assertion manual_agent HGNC:4539 MONDO:0014839 NCBIGene:6224 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6224 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9091 biolink:gene_associated_with_condition MONDO:0032808 infores:clingen HGNC:14135 MONDO:0032808 Definitive 2025-03-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_817e1fff-3af1-4be2-b834-0be47903c9a1-2025-03-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10771 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen NCBIGene:10771 MONDO:0800439 Definitive 2024-03-28T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7250b506-97ab-49c9-9d7c-71c88003854e-2024-03-28T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51481 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51481 MONDO:0700096 Dosage sensitivity unlikely 40 true No evidence available 0 NCBIGene:144568 biolink:gene_associated_with_condition MONDO:0008162 infores:ubergraph knowledge_assertion manual_agent HGNC:23336 MONDO:0008162 NCBIGene:10516 biolink:gene_associated_with_condition MONDO:0030689 infores:ubergraph knowledge_assertion manual_agent HGNC:3602 MONDO:0030689 NCBIGene:144535 biolink:gene_associated_with_condition MONDO:0100607 infores:clingen HGNC:26456 MONDO:0100607 Strong 2025-07-16T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f16ea0ce-7d5d-4bdc-92fe-52d111913161-2025-07-16T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:4790 biolink:gene_associated_with_condition MONDO:0014697 infores:clingen HGNC:7794 MONDO:0014697 Moderate 2025-04-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e922c85d-f51a-4394-8906-cf01978d8154-2025-04-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5048 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5048 MONDO:0700096 No evidence available 0 true NCBIGene:201163 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:201163 MONDO:0700096 No evidence available 0 true NCBIGene:57096 biolink:gene_associated_with_condition MONDO:0011987 infores:ubergraph knowledge_assertion manual_agent HGNC:13436 MONDO:0011987 NCBIGene:3110 biolink:gene_associated_with_condition MONDO:0008305 infores:ubergraph knowledge_assertion manual_agent HGNC:4979 MONDO:0008305 NCBIGene:51091 biolink:gene_associated_with_condition MONDO:0013438 infores:clingen NCBIGene:51091 MONDO:0013438 Gene associated with autosomal recessive phenotype 30 NCBIGene:54809 biolink:gene_associated_with_condition MONDO:0100628 infores:clingen HGNC:1348 MONDO:0100628 Definitive 2024-12-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_217808da-14ba-4447-944c-ed1cd64d4b7e-2024-12-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23218 biolink:gene_associated_with_condition MONDO:0007686 infores:clingen HGNC:31928 MONDO:0007686 Definitive 2019-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae8bd4d6-8810-423b-83e0-98667f06426d-2019-06-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6820 biolink:gene_associated_with_condition MONDO:0033091 infores:ubergraph knowledge_assertion manual_agent HGNC:11459 MONDO:0033091 NCBIGene:57187 biolink:gene_associated_with_condition MONDO:0975826 infores:ubergraph knowledge_assertion manual_agent HGNC:19073 MONDO:0975826 NCBIGene:7403 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7403 MONDO:0700096 No evidence available 0 true NCBIGene:10311 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10311 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:11315 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11315 MONDO:0700096 No evidence available 0 true NCBIGene:81031 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:81031 MONDO:0700096 No evidence available 0 true NCBIGene:51569 biolink:gene_associated_with_condition MONDO:0033486 infores:ubergraph knowledge_assertion manual_agent HGNC:20597 MONDO:0033486 NCBIGene:51103 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51103 MONDO:0700096 No evidence available 0 true NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0013876 infores:ubergraph knowledge_assertion manual_agent HGNC:11998 MONDO:0013876 NCBIGene:136259 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:136259 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:64802 biolink:gene_associated_with_condition MONDO:0800101 infores:clingen HGNC:17877 MONDO:0800101 Definitive 2021-11-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6733bc3-489d-413d-9dbe-1bca25f48d49-2021-11-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:368 biolink:gene_associated_with_condition MONDO:0009925 infores:ubergraph knowledge_assertion manual_agent HGNC:57 MONDO:0009925 NCBIGene:6925 biolink:gene_associated_with_condition MONDO:0012589 infores:clingen NCBIGene:6925 MONDO:0012589 Definitive 2018-05-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_096f830c-0065-456a-9e26-db54fd157981-2018-05-02T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5654 biolink:gene_associated_with_condition MONDO:0014768 infores:ubergraph knowledge_assertion manual_agent HGNC:9476 MONDO:0014768 NCBIGene:5062 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5062 MONDO:0700096 Little evidence for dosage pathogenicity 1 true Little evidence for dosage pathogenicity 1 NCBIGene:80254 biolink:gene_associated_with_condition MONDO:0013871 infores:ubergraph knowledge_assertion manual_agent HGNC:25815 MONDO:0013871 NCBIGene:8085 biolink:gene_associated_with_condition MONDO:0035651 infores:ubergraph knowledge_assertion manual_agent HGNC:7133 MONDO:0035651 NCBIGene:25923 biolink:gene_associated_with_condition MONDO:0014286 infores:clingen HGNC:24526 MONDO:0014286 Moderate 2021-07-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132d0be7-2003-43ed-a934-1cf60cf45773-2021-07-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5361 biolink:gene_associated_with_condition MONDO:0859260 infores:ubergraph knowledge_assertion manual_agent HGNC:9099 MONDO:0859260 NCBIGene:25821 biolink:gene_associated_with_condition MONDO:0013865 infores:clingen NCBIGene:25821 MONDO:0013865 Gene associated with autosomal recessive phenotype 30 NCBIGene:23500 biolink:gene_associated_with_condition MONDO:0031008 infores:ubergraph knowledge_assertion manual_agent HGNC:18143 MONDO:0031008 NCBIGene:3459 biolink:gene_associated_with_condition MONDO:0014429 infores:ubergraph knowledge_assertion manual_agent HGNC:5439 MONDO:0014429 NCBIGene:1414 biolink:gene_associated_with_condition MONDO:0012688 infores:ubergraph knowledge_assertion manual_agent HGNC:2397 MONDO:0012688 NCBIGene:6868 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:195 MONDO:0005453 Limited 2023-08-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ad3a100-7a22-4065-aaa2-87c64a843486-2023-08-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:85358 biolink:gene_associated_with_condition MONDO:0011652 infores:clingen NCBIGene:85358 MONDO:0011652 Definitive 2018-12-12T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941703a-0f30-4f4c-a997-bc3b4295f289-2018-12-12T110000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:65109 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:65109 MONDO:0700096 No evidence available 0 true NCBIGene:91851 biolink:gene_associated_with_condition MONDO:0010649 infores:clingen NCBIGene:91851 MONDO:0010649 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9377 biolink:gene_associated_with_condition MONDO:0033655 infores:ubergraph knowledge_assertion manual_agent HGNC:2267 MONDO:0033655 NCBIGene:2492 biolink:gene_associated_with_condition MONDO:0024463 infores:ubergraph knowledge_assertion manual_agent HGNC:3969 MONDO:0024463 NCBIGene:10329 biolink:gene_associated_with_condition MONDO:0018939 infores:clingen HGNC:13530 MONDO:0018939 Definitive 2023-07-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31f6e2b9-8355-4631-8f6b-dadad24dabc4-2023-07-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7343 biolink:gene_associated_with_condition MONDO:0044701 infores:clingen HGNC:12511 MONDO:0044701 Definitive 2023-08-16T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a5d6060-b955-49a0-9804-265838495310-2023-08-16T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0100561 infores:ubergraph knowledge_assertion manual_agent HGNC:4823 MONDO:0100561 NCBIGene:2776 biolink:gene_associated_with_condition MONDO:0008501 infores:ubergraph knowledge_assertion manual_agent HGNC:4390 MONDO:0008501 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9496 MONDO:0700096 No evidence available 0 true NCBIGene:5352 biolink:gene_associated_with_condition MONDO:0012217 infores:clingen NCBIGene:5352 MONDO:0012217 Gene associated with autosomal recessive phenotype 30 NCBIGene:140545 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:140545 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:256472 biolink:gene_associated_with_condition MONDO:0859380 infores:ubergraph knowledge_assertion manual_agent HGNC:28497 MONDO:0859380 NCBIGene:2582 biolink:gene_associated_with_condition MONDO:0009257 infores:ubergraph knowledge_assertion manual_agent HGNC:4116 MONDO:0009257 NCBIGene:7100 biolink:gene_associated_with_condition MONDO:0014251 infores:ubergraph knowledge_assertion manual_agent HGNC:11851 MONDO:0014251 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0011714 infores:ubergraph knowledge_assertion manual_agent HGNC:1527 MONDO:0011714 NCBIGene:3460 biolink:gene_associated_with_condition MONDO:0013953 infores:ubergraph knowledge_assertion manual_agent HGNC:5440 MONDO:0013953 NCBIGene:29089 biolink:gene_associated_with_condition MONDO:0014638 infores:ubergraph knowledge_assertion manual_agent HGNC:25009 MONDO:0014638 NCBIGene:2006 biolink:gene_associated_with_condition MONDO:0008504 infores:ubergraph knowledge_assertion manual_agent HGNC:3327 MONDO:0008504 NCBIGene:9364 biolink:gene_associated_with_condition MONDO:0014153 infores:clingen NCBIGene:9364 MONDO:0014153 Gene associated with autosomal recessive phenotype 30 NCBIGene:406960 biolink:gene_associated_with_condition MONDO:0013678 infores:ubergraph knowledge_assertion manual_agent HGNC:31555 MONDO:0013678 NCBIGene:23036 biolink:gene_associated_with_condition MONDO:0030934 infores:ubergraph knowledge_assertion manual_agent HGNC:18410 MONDO:0030934 NCBIGene:6611 biolink:gene_associated_with_condition MONDO:0010664 infores:ubergraph knowledge_assertion manual_agent HGNC:11123 MONDO:0010664 NCBIGene:222662 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:21253 MONDO:0019497 Definitive 2018-04-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a029f02-3524-4932-9293-9c02304fdd2b-2018-04-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:92960 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:20208 MONDO:0019234 No Known Disease Relationship 2020-08-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_932d75de-89f1-4ba6-8a2a-05f53ecdf097-2020-08-06T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:4867 biolink:gene_associated_with_condition MONDO:0012308 infores:ubergraph knowledge_assertion manual_agent HGNC:7905 MONDO:0012308 NCBIGene:140732 biolink:gene_associated_with_condition MONDO:0014961 infores:ubergraph knowledge_assertion manual_agent HGNC:16252 MONDO:0014961 NCBIGene:51317 biolink:gene_associated_with_condition MONDO:0032883 infores:ubergraph knowledge_assertion manual_agent HGNC:24156 MONDO:0032883 NCBIGene:2187 biolink:gene_associated_with_condition MONDO:0010351 infores:ubergraph knowledge_assertion manual_agent HGNC:3583 MONDO:0010351 NCBIGene:1528 biolink:gene_associated_with_condition MONDO:0009605 infores:clingen NCBIGene:1528 MONDO:0009605 Definitive 2024-12-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_895f7f88-9dcc-42fd-8773-e20dadb6756c-2024-12-13T190000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1417 biolink:gene_associated_with_condition MONDO:0012336 infores:ubergraph knowledge_assertion manual_agent HGNC:2400 MONDO:0012336 NCBIGene:56652 biolink:gene_associated_with_condition MONDO:0012241 infores:ubergraph knowledge_assertion manual_agent HGNC:1160 MONDO:0012241 NCBIGene:23345 biolink:gene_associated_with_condition MONDO:0032778 infores:ubergraph knowledge_assertion manual_agent HGNC:17089 MONDO:0032778 NCBIGene:10940 biolink:gene_associated_with_condition MONDO:0054561 infores:ubergraph knowledge_assertion manual_agent HGNC:30129 MONDO:0054561 NCBIGene:1893 biolink:gene_associated_with_condition MONDO:0009530 infores:ubergraph knowledge_assertion manual_agent HGNC:3153 MONDO:0009530 NCBIGene:101929726 biolink:gene_associated_with_condition MONDO:0100292 infores:ubergraph knowledge_assertion manual_agent HGNC:52391 MONDO:0100292 NCBIGene:5994 biolink:gene_associated_with_condition MONDO:0971015 infores:ubergraph knowledge_assertion manual_agent HGNC:9988 MONDO:0971015 NCBIGene:3778 biolink:gene_associated_with_condition MONDO:0032827 infores:ubergraph knowledge_assertion manual_agent HGNC:6284 MONDO:0032827 NCBIGene:2911 biolink:gene_associated_with_condition MONDO:0013905 infores:ubergraph knowledge_assertion manual_agent HGNC:4593 MONDO:0013905 NCBIGene:113263 biolink:gene_associated_with_condition MONDO:0013732 infores:ubergraph knowledge_assertion manual_agent HGNC:18713 MONDO:0013732 NCBIGene:3300 biolink:gene_associated_with_condition MONDO:0014866 infores:clingen HGNC:5228 MONDO:0014866 Definitive 2022-02-10T02:23:50.942Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d726e4f-6edb-4d04-b2ae-2cd05ecdd8db-2022-02-10T022350.942Z AR Autosomal Recessive 0000007 NCBIGene:8943 biolink:gene_associated_with_condition MONDO:0014885 infores:ubergraph knowledge_assertion manual_agent HGNC:568 MONDO:0014885 NCBIGene:5395 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:9122 MONDO:0005835 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_213ba61e-a4a5-4e4f-945d-f0fef691a9ba-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:2332 biolink:gene_associated_with_condition MONDO:0010706 infores:ubergraph knowledge_assertion manual_agent HGNC:3775 MONDO:0010706 NCBIGene:59067 biolink:gene_associated_with_condition MONDO:0015517 infores:clingen HGNC:6005 MONDO:0015517 Limited 2022-12-30T12:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82664dca-783a-4ed9-abe5-c77b082a0684-2022-12-30T120000.000Z AR Autosomal Recessive 0000007 NCBIGene:57057 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57057 MONDO:0700096 No evidence available 0 true NCBIGene:8036 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8036 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:387119 biolink:gene_associated_with_condition MONDO:0030031 infores:ubergraph knowledge_assertion manual_agent HGNC:21638 MONDO:0030031 NCBIGene:4848 biolink:gene_associated_with_condition MONDO:0032832 infores:ubergraph knowledge_assertion manual_agent HGNC:7878 MONDO:0032832 NCBIGene:2222 biolink:gene_associated_with_condition MONDO:0032566 infores:ubergraph knowledge_assertion manual_agent HGNC:3629 MONDO:0032566 NCBIGene:7846 biolink:gene_associated_with_condition MONDO:0012703 infores:ubergraph knowledge_assertion manual_agent HGNC:20766 MONDO:0012703 NCBIGene:5459 biolink:gene_associated_with_condition MONDO:0011226 infores:clingen NCBIGene:5459 MONDO:0011226 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10111 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:9816 MONDO:0016419 Refuted 2023-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f16b58f-c6b5-45ef-bb4a-a9fa5fe8ac35-2023-03-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:284654 biolink:gene_associated_with_condition MONDO:0012530 infores:ubergraph knowledge_assertion manual_agent HGNC:21679 MONDO:0012530 NCBIGene:7066 biolink:gene_associated_with_condition MONDO:0008554 infores:clingen HGNC:11795 MONDO:0008554 Definitive 2024-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e99d3899-efbe-4cb9-9170-748ea92892ce-2024-05-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79731 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26274 MONDO:0019497 Limited 2021-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9db16e79-4c14-437f-9723-749f99053d5c-2021-11-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79645 biolink:gene_associated_with_condition MONDO:0957991 infores:clingen HGNC:25678 MONDO:0957991 Strong 2025-04-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18721467-867b-4687-b4f2-5af09951ada5-2025-04-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5265 biolink:gene_associated_with_condition MONDO:0013282 infores:ubergraph knowledge_assertion manual_agent HGNC:8941 MONDO:0013282 NCBIGene:6536 biolink:gene_associated_with_condition MONDO:0015010 infores:clingen HGNC:11056 MONDO:0015010 Definitive 2025-07-25T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da54b125-0bd7-461f-9094-e72b2a97818a-2025-07-25T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:9557 biolink:gene_associated_with_condition MONDO:0019719 infores:clingen HGNC:1916 MONDO:0019719 Limited 2016-11-18T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3220 AD Autosomal Dominant 0000006 NCBIGene:4357 biolink:gene_associated_with_condition MONDO:0009585 infores:clingen HGNC:7223 MONDO:0009585 No Known Disease Relationship 2023-04-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc10dd44-961d-4925-b387-ed4569242eff-2023-04-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:64135 biolink:gene_associated_with_condition MONDO:0030692 infores:ubergraph knowledge_assertion manual_agent HGNC:18873 MONDO:0030692 NCBIGene:22941 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22941 MONDO:0700096 No evidence available 0 true NCBIGene:23347 biolink:gene_associated_with_condition MONDO:0008031 infores:ubergraph knowledge_assertion manual_agent HGNC:29090 MONDO:0008031 NCBIGene:977 biolink:gene_associated_with_condition MONDO:0012190 infores:ubergraph knowledge_assertion manual_agent HGNC:1630 MONDO:0012190 NCBIGene:7084 biolink:gene_associated_with_condition MONDO:0014898 infores:ubergraph knowledge_assertion manual_agent HGNC:11831 MONDO:0014898 NCBIGene:3664 biolink:gene_associated_with_condition MONDO:0007334 infores:ubergraph knowledge_assertion manual_agent HGNC:6121 MONDO:0007334 NCBIGene:7262 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7262 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4803 biolink:gene_associated_with_condition MONDO:0012092 infores:ubergraph knowledge_assertion manual_agent HGNC:7808 MONDO:0012092 NCBIGene:7056 biolink:gene_associated_with_condition MONDO:0013775 infores:clingen HGNC:11784 MONDO:0013775 Moderate 2023-11-06T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_358cb384-4303-425d-9b92-509c600c2d03-2023-11-06T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:85007 biolink:gene_associated_with_condition MONDO:0014008 infores:clingen HGNC:28249 MONDO:0014008 Limited 2023-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82ba1358-e58c-4187-bbe7-0f1bf41267d0-2023-11-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:219854 biolink:gene_associated_with_condition MONDO:0030454 infores:ubergraph knowledge_assertion manual_agent HGNC:27344 MONDO:0030454 NCBIGene:6198 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:10436 MONDO:0005045 Limited 2023-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e24747c-18e6-4db0-8ee7-1259bc74c4da-2023-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1080 biolink:gene_associated_with_condition MONDO:0100627 infores:ubergraph knowledge_assertion manual_agent HGNC:1884 MONDO:0100627 NCBIGene:164656 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:164656 MONDO:0700096 No evidence available 0 true NCBIGene:6603 biolink:gene_associated_with_condition MONDO:0044208 infores:ubergraph knowledge_assertion manual_agent HGNC:11107 MONDO:0044208 NCBIGene:217 biolink:gene_associated_with_condition MONDO:0030894 infores:ubergraph knowledge_assertion manual_agent HGNC:404 MONDO:0030894 NCBIGene:23524 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23524 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6678 biolink:gene_associated_with_condition MONDO:0014672 infores:ubergraph knowledge_assertion manual_agent HGNC:11219 MONDO:0014672 NCBIGene:80270 biolink:gene_associated_with_condition MONDO:0011906 infores:ubergraph knowledge_assertion manual_agent HGNC:18324 MONDO:0011906 NCBIGene:59 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:59 MONDO:0700096 No evidence available 0 true NCBIGene:11155 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:15710 MONDO:0005021 Limited 2025-03-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7756e3c0-5a16-49b8-ac0f-220e79a4fa99-2025-03-21T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:9639 biolink:gene_associated_with_condition MONDO:0011998 infores:ubergraph knowledge_assertion manual_agent HGNC:14103 MONDO:0011998 NCBIGene:10733 biolink:gene_associated_with_condition MONDO:0014516 infores:ubergraph knowledge_assertion manual_agent HGNC:11397 MONDO:0014516 NCBIGene:90624 biolink:gene_associated_with_condition MONDO:0014364 infores:clingen NCBIGene:90624 MONDO:0014364 Gene associated with autosomal recessive phenotype 30 NCBIGene:646960 biolink:gene_associated_with_condition MONDO:0013293 infores:ubergraph knowledge_assertion manual_agent HGNC:39433 MONDO:0013293 NCBIGene:113278 biolink:gene_associated_with_condition MONDO:0024537 infores:clingen NCBIGene:113278 MONDO:0024537 Definitive 2023-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0ae82e2-4c39-45b2-ba2d-6fe2570dbcfc-2023-09-04T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10142 biolink:gene_associated_with_condition MONDO:0012738 infores:ubergraph knowledge_assertion manual_agent HGNC:379 MONDO:0012738 NCBIGene:54361 biolink:gene_associated_with_condition MONDO:0008019 infores:ubergraph knowledge_assertion manual_agent HGNC:12783 MONDO:0008019 NCBIGene:5277 biolink:gene_associated_with_condition MONDO:0018346 infores:ubergraph knowledge_assertion manual_agent HGNC:8957 MONDO:0018346 NCBIGene:80173 biolink:gene_associated_with_condition MONDO:0030463 infores:ubergraph knowledge_assertion manual_agent HGNC:21424 MONDO:0030463 NCBIGene:5949 biolink:gene_associated_with_condition MONDO:0014093 infores:ubergraph knowledge_assertion manual_agent HGNC:9921 MONDO:0014093 NCBIGene:1289 biolink:gene_associated_with_condition MONDO:0019567 infores:clingen NCBIGene:1289 MONDO:0019567 Sufficient evidence for dosage pathogenicity 3 NCBIGene:335 biolink:gene_associated_with_condition MONDO:0100188 infores:ubergraph knowledge_assertion manual_agent HGNC:600 MONDO:0100188 NCBIGene:5077 biolink:gene_associated_with_condition MONDO:0008670 infores:ubergraph knowledge_assertion manual_agent HGNC:8617 MONDO:0008670 NCBIGene:8777 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8777 MONDO:0700096 No evidence available 0 true NCBIGene:311 biolink:gene_associated_with_condition MONDO:0850514 infores:ubergraph knowledge_assertion manual_agent HGNC:535 MONDO:0850514 NCBIGene:582 biolink:gene_associated_with_condition MONDO:1040043 infores:clingen HGNC:966 MONDO:1040043 Definitive 2023-12-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee6e7562-927a-459b-a0f1-ccd849c7e783-2023-12-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10236 biolink:gene_associated_with_condition MONDO:0859297 infores:ubergraph knowledge_assertion manual_agent HGNC:5047 MONDO:0859297 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0010870 infores:clingen HGNC:12403 MONDO:0010870 Moderate 2022-03-14T20:50:17.462Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec556f45-8dbc-43f0-96df-29e69d7f3411-2022-03-14T205017.462Z AD Autosomal Dominant 0000006 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010571 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010571 NCBIGene:3781 biolink:gene_associated_with_condition MONDO:0859225 infores:ubergraph knowledge_assertion manual_agent HGNC:6291 MONDO:0859225 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:10593 MONDO:0005453 Disputed 2024-12-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a89509af-a746-4913-a100-e855f4a72998-2024-12-09T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:54820 biolink:gene_associated_with_condition MONDO:0013527 infores:clingen NCBIGene:54820 MONDO:0013527 Gene associated with autosomal recessive phenotype 30 NCBIGene:64327 biolink:gene_associated_with_condition MONDO:0007615 infores:ubergraph knowledge_assertion manual_agent HGNC:13243 MONDO:0007615 NCBIGene:2322 biolink:gene_associated_with_condition MONDO:0035639 infores:ubergraph knowledge_assertion manual_agent HGNC:3765 MONDO:0035639 NCBIGene:30813 biolink:gene_associated_with_condition MONDO:0007851 infores:ubergraph knowledge_assertion manual_agent HGNC:12723 MONDO:0007851 NCBIGene:55636 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55636 MONDO:0700096 No evidence available 0 true NCBIGene:4653 biolink:gene_associated_with_condition MONDO:0007664 infores:ubergraph knowledge_assertion manual_agent HGNC:7610 MONDO:0007664 NCBIGene:5728 biolink:gene_associated_with_condition MONDO:0013092 infores:ubergraph knowledge_assertion manual_agent HGNC:9588 MONDO:0013092 NCBIGene:2770 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:2770 MONDO:0100038 Definitive 2021-03-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea8128fc-f085-492a-b0ef-f37d994bb01b-2021-03-17T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:23530 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7863 MONDO:0044970 Definitive 2024-07-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4e0dd90-67d0-496d-9252-5a374c53ddb9-2024-07-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:59 biolink:gene_associated_with_condition MONDO:0013452 infores:clingen HGNC:130 MONDO:0013452 Definitive 2025-01-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f4fb1fe-4b82-481d-a81d-398eea46acc5-2025-01-24T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9474 biolink:gene_associated_with_condition MONDO:0033115 infores:clingen HGNC:589 MONDO:0033115 Limited 2025-10-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b47796b8-3811-4411-b0f0-5b703755f08b-2025-10-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:161742 biolink:gene_associated_with_condition MONDO:0012669 infores:ubergraph knowledge_assertion manual_agent HGNC:20249 MONDO:0012669 NCBIGene:65993 biolink:gene_associated_with_condition MONDO:0054654 infores:ubergraph knowledge_assertion manual_agent HGNC:16618 MONDO:0054654 NCBIGene:3953 biolink:gene_associated_with_condition MONDO:0013992 infores:clingen NCBIGene:3953 MONDO:0013992 Gene associated with autosomal recessive phenotype 30 NCBIGene:644096 biolink:gene_associated_with_condition MONDO:0030935 infores:ubergraph knowledge_assertion manual_agent HGNC:33867 MONDO:0030935 NCBIGene:23259 biolink:gene_associated_with_condition MONDO:0014018 infores:ubergraph knowledge_assertion manual_agent HGNC:29106 MONDO:0014018 NCBIGene:84142 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84142 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9420 biolink:gene_associated_with_condition MONDO:0010047 infores:ubergraph knowledge_assertion manual_agent HGNC:2652 MONDO:0010047 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0009179 infores:clingen HGNC:2214 MONDO:0009179 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940fac3e-2586-4d49-a6f3-db12e865cc65-2022-06-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4916 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:8033 MONDO:0005453 Disputed 2024-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ec69048-b11f-41f5-b160-c184ae1d65e6-2024-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1917 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:1917 MONDO:0100038 Definitive 2019-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17551147-b62c-47a9-a12a-f425c23d90ff-2019-03-19T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:80856 biolink:gene_associated_with_condition MONDO:0060761 infores:ubergraph knowledge_assertion manual_agent HGNC:21610 MONDO:0060761 NCBIGene:8216 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:6742 MONDO:0018997 Definitive 2020-04-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f21db9c-87ea-4095-96ca-4277eaa21232-2020-04-23T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4694 biolink:gene_associated_with_condition MONDO:0026720 infores:ubergraph knowledge_assertion manual_agent HGNC:7683 MONDO:0026720 NCBIGene:55252 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:23805 MONDO:0000508 Definitive 2021-09-28T11:54:43.696Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cedd313e-b43b-4212-840b-7d4172258b16-2021-09-28T115443.696Z AD Autosomal Dominant 0000006 NCBIGene:81031 biolink:gene_associated_with_condition MONDO:0008818 infores:ubergraph knowledge_assertion manual_agent HGNC:13444 MONDO:0008818 NCBIGene:5333 biolink:gene_associated_with_condition MONDO:0007900 infores:ubergraph knowledge_assertion manual_agent HGNC:9060 MONDO:0007900 NCBIGene:1768 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:2951 MONDO:0016575 Disputed 2025-01-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e919f48-1c90-45d9-b909-9a619e4e71d0-2025-01-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3570 biolink:gene_associated_with_condition MONDO:0030069 infores:clingen HGNC:6019 MONDO:0030069 Limited 2023-09-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3eaf66b-3d62-4789-8de9-151a56ff5632-2023-09-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51134 biolink:gene_associated_with_condition MONDO:0014374 infores:ubergraph knowledge_assertion manual_agent HGNC:17966 MONDO:0014374 NCBIGene:51117 biolink:gene_associated_with_condition MONDO:0014562 infores:ubergraph knowledge_assertion manual_agent HGNC:19693 MONDO:0014562 NCBIGene:2672 biolink:gene_associated_with_condition MONDO:0013139 infores:ubergraph knowledge_assertion manual_agent HGNC:4237 MONDO:0013139 NCBIGene:8988 biolink:gene_associated_with_condition MONDO:0013243 infores:ubergraph knowledge_assertion manual_agent HGNC:5248 MONDO:0013243 NCBIGene:5898 biolink:gene_associated_with_condition MONDO:0859142 infores:ubergraph knowledge_assertion manual_agent HGNC:9839 MONDO:0859142 NCBIGene:3557 biolink:gene_associated_with_condition MONDO:0013021 infores:ubergraph knowledge_assertion manual_agent HGNC:6000 MONDO:0013021 NCBIGene:339983 biolink:gene_associated_with_condition MONDO:0013549 infores:clingen NCBIGene:339983 MONDO:0013549 Limited 2024-03-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_854ce0ef-7744-483d-87c7-b2dc436f9f0f-2024-03-29T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:130557 biolink:gene_associated_with_condition MONDO:0013328 infores:ubergraph knowledge_assertion manual_agent HGNC:26498 MONDO:0013328 NCBIGene:1816 biolink:gene_associated_with_condition MONDO:0100532 infores:ubergraph knowledge_assertion manual_agent HGNC:3026 MONDO:0100532 NCBIGene:55065 biolink:gene_associated_with_condition MONDO:0004573 infores:ubergraph knowledge_assertion manual_agent HGNC:30225 MONDO:0004573 NCBIGene:4763 biolink:gene_associated_with_condition MONDO:0018975 infores:ubergraph knowledge_assertion manual_agent HGNC:7765 MONDO:0018975 NCBIGene:8462 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:11811 MONDO:0015967 Refuted 2023-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0013815 infores:clingen HGNC:3689 MONDO:0013815 Definitive 2022-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e38491d-8fb8-49f4-95a6-eb51df5014ba-2022-05-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9389 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9389 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:7399 biolink:gene_associated_with_condition MONDO:0016484 infores:clingen HGNC:12601 MONDO:0016484 Definitive 2017-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5661 AR Autosomal Recessive 0000007 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0014135 infores:ubergraph knowledge_assertion manual_agent HGNC:1527 MONDO:0014135 NCBIGene:54440 biolink:gene_associated_with_condition MONDO:0010730 infores:clingen HGNC:15975 MONDO:0010730 Definitive 2024-12-20T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f112c27-e610-425d-bbc5-a6d1d0de4da1-2024-12-20T100000.000Z XL X-linked 0001417 NCBIGene:3295 biolink:gene_associated_with_condition MONDO:0009300 infores:clingen NCBIGene:3295 MONDO:0009300 Gene associated with autosomal recessive phenotype 30 NCBIGene:79912 biolink:gene_associated_with_condition MONDO:0014993 infores:clingen HGNC:26162 MONDO:0014993 Definitive 2019-11-05T13:47:31.947Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4197c-2004-4d10-81dc-e61190eba909-2019-11-05T134731.947Z AR Autosomal Recessive 0000007 NCBIGene:60528 biolink:gene_associated_with_condition MONDO:0014190 infores:ubergraph knowledge_assertion manual_agent HGNC:14198 MONDO:0014190 NCBIGene:2512 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2512 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6908 biolink:gene_associated_with_condition MONDO:0011781 infores:ubergraph knowledge_assertion manual_agent HGNC:11588 MONDO:0011781 NCBIGene:776 biolink:gene_associated_with_condition MONDO:0013960 infores:ubergraph knowledge_assertion manual_agent HGNC:1391 MONDO:0013960 NCBIGene:7994 biolink:gene_associated_with_condition MONDO:0014558 infores:ubergraph knowledge_assertion manual_agent HGNC:13013 MONDO:0014558 NCBIGene:51726 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:14889 MONDO:0005308 Limited 2022-04-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42197b67-3c9d-47e6-b9c2-d6d3ef076acc-2022-04-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55215 biolink:gene_associated_with_condition MONDO:0012186 infores:ubergraph knowledge_assertion manual_agent HGNC:25568 MONDO:0012186 NCBIGene:5205 biolink:gene_associated_with_condition MONDO:0007829 infores:ubergraph knowledge_assertion manual_agent HGNC:3706 MONDO:0007829 NCBIGene:9147 biolink:gene_associated_with_condition MONDO:0030849 infores:ubergraph knowledge_assertion manual_agent HGNC:10663 MONDO:0030849 NCBIGene:372 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:372 MONDO:0700096 No evidence available 0 true NCBIGene:6712 biolink:gene_associated_with_condition MONDO:0014159 infores:ubergraph knowledge_assertion manual_agent HGNC:11276 MONDO:0014159 NCBIGene:3651 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:6107 MONDO:0015967 Moderate 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5487c912-a653-411d-b640-a51c60f51fa6-2022-06-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51062 biolink:gene_associated_with_condition MONDO:0013381 infores:clingen HGNC:11231 MONDO:0013381 Definitive 2022-02-10T02:08:57.711Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0282d1-5ab4-4a86-b1f6-165a3dbd515a-2022-02-10T020857.711Z AD Autosomal Dominant 0000006 NCBIGene:83659 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:15534 MONDO:0016575 Disputed 2025-03-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0667db63-0608-44d0-b65b-21fbe48d984e-2025-03-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2710 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2710 MONDO:0700096 No evidence available 0 true NCBIGene:1634 biolink:gene_associated_with_condition MONDO:0012401 infores:ubergraph knowledge_assertion manual_agent HGNC:2705 MONDO:0012401 NCBIGene:1371 biolink:gene_associated_with_condition MONDO:0800180 infores:clingen HGNC:2321 MONDO:0800180 Definitive 2023-01-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7cfd579-9ded-4e8a-b8be-c1a6e573e28b-2023-01-27T170000.000Z SD Semidominant 0032113 NCBIGene:83700 biolink:gene_associated_with_condition MONDO:0013394 infores:clingen NCBIGene:83700 MONDO:0013394 Gene associated with autosomal recessive phenotype 30 NCBIGene:367 biolink:gene_associated_with_condition MONDO:0019154 infores:clingen NCBIGene:367 MONDO:0019154 Sufficient evidence for dosage pathogenicity 3 NCBIGene:126328 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20371 MONDO:0044970 Limited 2022-02-17T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_210108ec-da38-4a32-80b6-8d88f4d22677-2022-02-17T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:5824 biolink:gene_associated_with_condition MONDO:0100270 infores:ubergraph knowledge_assertion manual_agent HGNC:9713 MONDO:0100270 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0013599 infores:ubergraph knowledge_assertion manual_agent HGNC:11362 MONDO:0013599 NCBIGene:255101 biolink:gene_associated_with_condition MONDO:0032859 infores:ubergraph knowledge_assertion manual_agent HGNC:25325 MONDO:0032859 NCBIGene:2313 biolink:gene_associated_with_condition MONDO:0054577 infores:clingen HGNC:3749 MONDO:0054577 Moderate 2023-09-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd0eaa15-3ee7-4db7-9920-c380757ece33-2023-09-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2719 biolink:gene_associated_with_condition MONDO:0020602 infores:clingen NCBIGene:2719 MONDO:0020602 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8651 biolink:gene_associated_with_condition MONDO:0800130 infores:ubergraph knowledge_assertion manual_agent HGNC:19383 MONDO:0800130 NCBIGene:221264 biolink:gene_associated_with_condition MONDO:0958206 infores:ubergraph knowledge_assertion manual_agent HGNC:33814 MONDO:0958206 NCBIGene:84660 biolink:gene_associated_with_condition MONDO:0030718 infores:ubergraph knowledge_assertion manual_agent HGNC:30723 MONDO:0030718 NCBIGene:84081 biolink:gene_associated_with_condition MONDO:0859275 infores:ubergraph knowledge_assertion manual_agent HGNC:25305 MONDO:0859275 NCBIGene:55975 biolink:gene_associated_with_condition MONDO:0013052 infores:ubergraph knowledge_assertion manual_agent HGNC:15646 MONDO:0013052 NCBIGene:129685 biolink:gene_associated_with_condition MONDO:0859266 infores:ubergraph knowledge_assertion manual_agent HGNC:17300 MONDO:0859266 NCBIGene:196528 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:196528 MONDO:0700096 No evidence available 0 true NCBIGene:10102 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:12367 MONDO:0009723 Moderate 2020-02-12T19:55:29.785Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d30a3f-a054-4812-9b97-116a8834fcb1-2020-02-12T195529.785Z AR Autosomal Recessive 0000007 NCBIGene:3954 biolink:gene_associated_with_condition MONDO:0859304 infores:ubergraph knowledge_assertion manual_agent HGNC:6556 MONDO:0859304 NCBIGene:774 biolink:gene_associated_with_condition MONDO:0032784 infores:ubergraph knowledge_assertion manual_agent HGNC:1389 MONDO:0032784 NCBIGene:7204 biolink:gene_associated_with_condition MONDO:0014892 infores:clingen NCBIGene:7204 MONDO:0014892 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54808 biolink:gene_associated_with_condition MONDO:0009130 infores:ubergraph knowledge_assertion manual_agent HGNC:21317 MONDO:0009130 NCBIGene:83394 biolink:gene_associated_with_condition MONDO:0010969 infores:ubergraph knowledge_assertion manual_agent HGNC:21043 MONDO:0010969 NCBIGene:1747 biolink:gene_associated_with_condition MONDO:0007093 infores:ubergraph knowledge_assertion manual_agent HGNC:2916 MONDO:0007093 NCBIGene:2560 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:4081 MONDO:0100062 Limited 2024-08-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4d0857b-2ee6-4664-ae52-d6cb9aaaf73c-2024-08-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2677 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:4247 MONDO:0015924 Moderate 2025-09-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac82a47-d6c3-4cbb-ae29-b6044a9a624e-2025-09-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79797 biolink:gene_associated_with_condition MONDO:0014652 infores:ubergraph knowledge_assertion manual_agent HGNC:20041 MONDO:0014652 NCBIGene:23287 biolink:gene_associated_with_condition MONDO:0032650 infores:clingen HGNC:17258 MONDO:0032650 Definitive 2025-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e11a817-7b96-4205-a9d8-6aab86a735bc-2025-07-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51021 biolink:gene_associated_with_condition MONDO:0012510 infores:ubergraph knowledge_assertion manual_agent HGNC:14048 MONDO:0012510 NCBIGene:2355 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2355 MONDO:0700096 No evidence available 0 true NCBIGene:147372 biolink:gene_associated_with_condition MONDO:0009337 infores:ubergraph knowledge_assertion manual_agent HGNC:29426 MONDO:0009337 NCBIGene:406932 biolink:gene_associated_with_condition MONDO:0032835 infores:ubergraph knowledge_assertion manual_agent HGNC:31527 MONDO:0032835 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0011362 infores:clingen HGNC:12403 MONDO:0011362 Moderate 2022-03-14T20:51:17.630Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bade9ef3-17fa-42ee-a2d7-9c9b985b1503-2022-03-14T205117.630Z AD Autosomal Dominant 0000006 NCBIGene:27019 biolink:gene_associated_with_condition MONDO:0009484 infores:clingen NCBIGene:27019 MONDO:0009484 Definitive 2022-06-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_396be572-5b2c-4859-90dd-434a91c1ce96-2022-06-30T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:70 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:70 MONDO:0700096 No evidence available 0 true NCBIGene:50615 biolink:gene_associated_with_condition MONDO:0014082 infores:ubergraph knowledge_assertion manual_agent HGNC:6006 MONDO:0014082 NCBIGene:4436 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4436 MONDO:0700096 No evidence available 0 true NCBIGene:8869 biolink:gene_associated_with_condition MONDO:0018274 infores:ubergraph knowledge_assertion manual_agent HGNC:10872 MONDO:0018274 NCBIGene:6567 biolink:gene_associated_with_condition MONDO:0010354 infores:ubergraph knowledge_assertion manual_agent HGNC:10923 MONDO:0010354 NCBIGene:2018 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2018 MONDO:0700096 No evidence available 0 true NCBIGene:1675 biolink:gene_associated_with_condition MONDO:0013487 infores:clingen NCBIGene:1675 MONDO:0013487 Gene associated with autosomal recessive phenotype 30 NCBIGene:9132 biolink:gene_associated_with_condition MONDO:0010817 infores:ubergraph knowledge_assertion manual_agent HGNC:6298 MONDO:0010817 NCBIGene:10682 biolink:gene_associated_with_condition MONDO:0010498 infores:clingen HGNC:3133 MONDO:0010498 Definitive 2022-09-07T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21e97c32-52ae-4331-8788-64d652f20af3-2022-09-07T180000.000Z XL X-linked 0001417 NCBIGene:9459 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9459 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:57505 biolink:gene_associated_with_condition MONDO:0013570 infores:ubergraph knowledge_assertion manual_agent HGNC:21022 MONDO:0013570 NCBIGene:8050 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:21350 MONDO:0009723 Definitive 2021-03-11T17:42:26.092Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3608ac5e-4b1f-4bb5-aa0c-cc42a2262304-2021-03-11T174226.092Z AR Autosomal Recessive 0000007 NCBIGene:57716 biolink:gene_associated_with_condition MONDO:0013959 infores:ubergraph knowledge_assertion manual_agent HGNC:13797 MONDO:0013959 NCBIGene:2033 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2033 MONDO:0700096 No evidence available 0 true NCBIGene:84188 biolink:gene_associated_with_condition MONDO:0014510 infores:clingen HGNC:26222 MONDO:0014510 Moderate 2025-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91f6f864-5d07-4891-94b5-7f73bd71752c-2025-07-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26039 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:15592 MONDO:0004976 Limited 2023-05-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e148a06-50fc-45f3-90ea-023dc8687577-2023-05-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:899 biolink:gene_associated_with_condition MONDO:0030875 infores:ubergraph knowledge_assertion manual_agent HGNC:1591 MONDO:0030875 NCBIGene:6491 biolink:gene_associated_with_condition MONDO:0012989 infores:ubergraph knowledge_assertion manual_agent HGNC:10879 MONDO:0012989 NCBIGene:538 biolink:gene_associated_with_condition MONDO:0010651 infores:ubergraph knowledge_assertion manual_agent HGNC:869 MONDO:0010651 NCBIGene:3630 biolink:gene_associated_with_condition MONDO:0014535 infores:ubergraph knowledge_assertion manual_agent HGNC:6081 MONDO:0014535 NCBIGene:2782 biolink:gene_associated_with_condition MONDO:0014855 infores:clingen HGNC:4396 MONDO:0014855 Definitive 2023-08-16T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f83c8548-99d7-489d-8582-ac4ad5abd0ec-2023-08-16T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:50615 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:50615 MONDO:0700096 No evidence available 0 true NCBIGene:283677 biolink:gene_associated_with_condition MONDO:0030925 infores:ubergraph knowledge_assertion manual_agent HGNC:25065 MONDO:0030925 NCBIGene:7171 biolink:gene_associated_with_condition MONDO:0100487 infores:clingen HGNC:12013 MONDO:0100487 Moderate 2024-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b8bb90f-f190-4e20-8f65-27d236cb7d79-2024-05-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1041 biolink:gene_associated_with_condition MONDO:0007805 infores:ubergraph knowledge_assertion manual_agent HGNC:1802 MONDO:0007805 NCBIGene:1140 biolink:gene_associated_with_condition MONDO:0014582 infores:clingen HGNC:1961 MONDO:0014582 Definitive 2025-07-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9904daf-082e-487c-b3c8-06c138911d18-2025-07-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55777 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:55777 MONDO:0100038 Definitive 2023-02-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_952cb4f8-e59b-4edb-a393-0266e0008963-2023-02-15T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7187 biolink:gene_associated_with_condition MONDO:0100513 infores:clingen HGNC:12033 MONDO:0100513 Moderate 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd75b152-5853-4a4e-b1c4-04d1d0c27a38-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:161742 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:161742 MONDO:0700096 No evidence available 0 true NCBIGene:7453 biolink:gene_associated_with_condition MONDO:0957218 infores:ubergraph knowledge_assertion manual_agent HGNC:12729 MONDO:0957218 NCBIGene:10661 biolink:gene_associated_with_condition MONDO:0975829 infores:ubergraph knowledge_assertion manual_agent HGNC:6345 MONDO:0975829 NCBIGene:767 biolink:gene_associated_with_condition MONDO:0013188 infores:clingen NCBIGene:767 MONDO:0013188 Gene associated with autosomal recessive phenotype 30 NCBIGene:51142 biolink:gene_associated_with_condition MONDO:0014742 infores:ubergraph knowledge_assertion manual_agent HGNC:21645 MONDO:0014742 NCBIGene:112817 biolink:gene_associated_with_condition MONDO:0013327 infores:ubergraph knowledge_assertion manual_agent HGNC:25155 MONDO:0013327 NCBIGene:5087 biolink:gene_associated_with_condition MONDO:0060549 infores:ubergraph knowledge_assertion manual_agent HGNC:8632 MONDO:0060549 NCBIGene:7048 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7048 MONDO:0700096 No evidence available 0 true NCBIGene:378884 biolink:gene_associated_with_condition MONDO:0009697 infores:clingen HGNC:21576 MONDO:0009697 Definitive 2020-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4dbe715-b897-482d-afeb-b05c0653a79a-2020-03-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:11231 biolink:gene_associated_with_condition MONDO:0014860 infores:ubergraph knowledge_assertion manual_agent HGNC:21082 MONDO:0014860 NCBIGene:258 biolink:gene_associated_with_condition MONDO:0014560 infores:ubergraph knowledge_assertion manual_agent HGNC:452 MONDO:0014560 NCBIGene:6855 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:11506 MONDO:0019181 Moderate 2020-12-15T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0d770a5-873c-4a55-98da-fa8d235ff93b-2020-12-15T230000.000Z XL X-linked 0001417 NCBIGene:1144 biolink:gene_associated_with_condition MONDO:0014585 infores:ubergraph knowledge_assertion manual_agent HGNC:1965 MONDO:0014585 NCBIGene:1750 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1750 MONDO:0700096 No evidence available 0 true NCBIGene:51692 biolink:gene_associated_with_condition MONDO:0859250 infores:ubergraph knowledge_assertion manual_agent HGNC:2326 MONDO:0859250 NCBIGene:2683 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2683 MONDO:0700096 No evidence available 0 true NCBIGene:5251 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5251 MONDO:0700096 No evidence available 0 true NCBIGene:256471 biolink:gene_associated_with_condition MONDO:0012588 infores:ubergraph knowledge_assertion manual_agent HGNC:28486 MONDO:0012588 NCBIGene:57492 biolink:gene_associated_with_condition MONDO:0007617 infores:ubergraph knowledge_assertion manual_agent HGNC:18040 MONDO:0007617 NCBIGene:284058 biolink:gene_associated_with_condition MONDO:0012496 infores:clingen NCBIGene:284058 MONDO:0012496 Definitive 2022-02-18T12:09:36.714Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e89a0e87-314a-49b1-bb50-6b26aeaa1037-2022-02-18T120936.714Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0014658 infores:clingen HGNC:3690 MONDO:0014658 Moderate 2022-05-09T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7daa910-8226-46cc-8a65-034c0833d9cc-2022-05-09T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:54014 biolink:gene_associated_with_condition MONDO:0015977 infores:clingen HGNC:12760 MONDO:0015977 Limited 2022-12-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a44471f3-0951-4456-955d-916b691e59f5-2022-12-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1859 biolink:gene_associated_with_condition MONDO:0013578 infores:ubergraph knowledge_assertion manual_agent HGNC:3091 MONDO:0013578 NCBIGene:10847 biolink:gene_associated_with_condition MONDO:0007621 infores:ubergraph knowledge_assertion manual_agent HGNC:16974 MONDO:0007621 NCBIGene:79709 biolink:gene_associated_with_condition MONDO:0100105 infores:clingen HGNC:26182 MONDO:0100105 Moderate 2025-03-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cc18e7d-fac7-435b-9207-9a3e6891e7ca-2025-03-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4361 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:7230 MONDO:0016248 Refuted 2023-12-15T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5b721c7-52ab-4475-a87e-cb0fa3be198f-2023-12-15T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:26005 biolink:gene_associated_with_condition MONDO:0014413 infores:ubergraph knowledge_assertion manual_agent HGNC:24564 MONDO:0014413 NCBIGene:8879 biolink:gene_associated_with_condition MONDO:0033203 infores:ubergraph knowledge_assertion manual_agent HGNC:10817 MONDO:0033203 NCBIGene:270 biolink:gene_associated_with_condition MONDO:0014220 infores:ubergraph knowledge_assertion manual_agent HGNC:468 MONDO:0014220 NCBIGene:5071 biolink:gene_associated_with_condition MONDO:0010820 infores:clingen NCBIGene:5071 MONDO:0010820 Gene associated with autosomal recessive phenotype 30 NCBIGene:2109 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2109 MONDO:0700096 No evidence available 0 true NCBIGene:2304 biolink:gene_associated_with_condition MONDO:0009437 infores:clingen NCBIGene:2304 MONDO:0009437 Definitive 2024-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a00a763-90dc-4d36-8b34-54cf4f477269-2024-05-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5830 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:9719 MONDO:0019234 Definitive 2020-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b49d9cfd-0e51-4219-84bb-76b4c9b99fa9-2020-01-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4659 biolink:gene_associated_with_condition MONDO:0032934 infores:clingen HGNC:7618 MONDO:0032934 Strong 2021-07-27T14:54:58.008Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93fa5165-a907-4ca8-b0d3-bb174bf3fca9-2021-07-27T145458.008Z AD Autosomal Dominant 0000006 NCBIGene:7401 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7401 MONDO:0700096 No evidence available 0 true NCBIGene:2743 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2743 MONDO:0700096 No evidence available 0 true NCBIGene:9187 biolink:gene_associated_with_condition MONDO:0013450 infores:ubergraph knowledge_assertion manual_agent HGNC:10975 MONDO:0013450 NCBIGene:51412 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen NCBIGene:51412 MONDO:0100062 Gene associated with autosomal recessive phenotype 30 NCBIGene:203228 biolink:gene_associated_with_condition MONDO:0007105 infores:clingen HGNC:28337 MONDO:0007105 Definitive 2021-09-21T03:02:09.665Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd5a267-72c8-4a04-8404-4c819efe61c5-2021-09-21T030209.665Z AD Autosomal Dominant 0000006 NCBIGene:54413 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:14289 MONDO:0100148 Moderate 2018-08-15T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6e7e531-093b-4216-8c56-0c94e63c2811-2018-08-15T100000.000Z XL X-linked 0001417 NCBIGene:6663 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6663 MONDO:0700096 No evidence available 0 true NCBIGene:200205 biolink:gene_associated_with_condition MONDO:0014132 infores:ubergraph knowledge_assertion manual_agent HGNC:27302 MONDO:0014132 NCBIGene:5213 biolink:gene_associated_with_condition MONDO:0009295 infores:ubergraph knowledge_assertion manual_agent HGNC:8877 MONDO:0009295 NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0009079 infores:ubergraph knowledge_assertion manual_agent HGNC:29203 MONDO:0009079 NCBIGene:57674 biolink:gene_associated_with_condition MONDO:0011784 infores:ubergraph knowledge_assertion manual_agent HGNC:14539 MONDO:0011784 NCBIGene:686 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:686 MONDO:0700096 No evidence available 0 true NCBIGene:170825 biolink:gene_associated_with_condition MONDO:0020762 infores:ubergraph knowledge_assertion manual_agent HGNC:24959 MONDO:0020762 NCBIGene:58 biolink:gene_associated_with_condition MONDO:0100084 infores:ubergraph knowledge_assertion manual_agent HGNC:129 MONDO:0100084 NCBIGene:22926 biolink:gene_associated_with_condition MONDO:0100447 infores:ubergraph knowledge_assertion manual_agent HGNC:791 MONDO:0100447 NCBIGene:22800 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:17271 MONDO:0018997 Definitive 2022-12-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5742615-3820-41dd-a523-e660a498f9e8-2022-12-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6772 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:210 biolink:gene_associated_with_condition MONDO:0013000 infores:ubergraph knowledge_assertion manual_agent HGNC:395 MONDO:0013000 NCBIGene:10166 biolink:gene_associated_with_condition MONDO:0009393 infores:ubergraph knowledge_assertion manual_agent HGNC:10985 MONDO:0009393 NCBIGene:4952 biolink:gene_associated_with_condition MONDO:0010359 infores:ubergraph knowledge_assertion manual_agent HGNC:8108 MONDO:0010359 NCBIGene:54938 biolink:gene_associated_with_condition MONDO:0013458 infores:ubergraph knowledge_assertion manual_agent HGNC:17697 MONDO:0013458 NCBIGene:10295 biolink:gene_associated_with_condition MONDO:0013970 infores:clingen HGNC:16902 MONDO:0013970 Definitive 2019-01-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aaad0-b56a-41dc-8d1f-9d12fc66113f-2019-01-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10159 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10159 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:55998 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55998 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3736 biolink:gene_associated_with_condition MONDO:0008047 infores:ubergraph knowledge_assertion manual_agent HGNC:6218 MONDO:0008047 NCBIGene:55636 biolink:gene_associated_with_condition MONDO:0008965 infores:clingen NCBIGene:55636 MONDO:0008965 Definitive 2018-08-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ae5799-567b-431b-b981-3bc2f8635802-2018-08-22T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0033013 infores:ubergraph knowledge_assertion manual_agent HGNC:4274 MONDO:0033013 NCBIGene:374462 biolink:gene_associated_with_condition MONDO:0019588 infores:clingen HGNC:9679 MONDO:0019588 Definitive 2017-02-23T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8404 AR Autosomal Recessive 0000007 NCBIGene:100507217 biolink:gene_associated_with_condition MONDO:0975874 infores:ubergraph knowledge_assertion manual_agent HGNC:48626 MONDO:0975874 NCBIGene:3818 biolink:gene_associated_with_condition MONDO:0012901 infores:clingen HGNC:6371 MONDO:0012901 Definitive 2022-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ada3e3e0-165c-4bfb-af20-d811b7b8d9b8-2022-12-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10785 biolink:gene_associated_with_condition MONDO:0032690 infores:ubergraph knowledge_assertion manual_agent HGNC:12756 MONDO:0032690 NCBIGene:57167 biolink:gene_associated_with_condition MONDO:0011812 infores:clingen NCBIGene:57167 MONDO:0011812 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22884 biolink:gene_associated_with_condition MONDO:0032850 infores:clingen HGNC:31406 MONDO:0032850 Definitive 2024-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3eaff9e-978b-47a6-ad55-88edabc62064-2024-10-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7078 biolink:gene_associated_with_condition MONDO:0007640 infores:ubergraph knowledge_assertion manual_agent HGNC:11822 MONDO:0007640 NCBIGene:25942 biolink:gene_associated_with_condition MONDO:0013256 infores:ubergraph knowledge_assertion manual_agent HGNC:19353 MONDO:0013256 NCBIGene:10992 biolink:gene_associated_with_condition MONDO:0958175 infores:ubergraph knowledge_assertion manual_agent HGNC:10769 MONDO:0958175 NCBIGene:26060 biolink:gene_associated_with_condition MONDO:0014674 infores:ubergraph knowledge_assertion manual_agent HGNC:24035 MONDO:0014674 NCBIGene:919 biolink:gene_associated_with_condition MONDO:0012426 infores:clingen HGNC:1677 MONDO:0012426 Definitive 2022-03-11T14:05:52.812Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_438b6c1f-edc0-4a81-9c82-39627e5a69cd-2022-03-11T140552.812Z AR Autosomal Recessive 0000007 NCBIGene:640 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:1057 MONDO:0015967 Refuted 2023-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_072e29f7-db97-40d9-9280-819706203c24-2023-01-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6557 biolink:gene_associated_with_condition MONDO:0100344 infores:ubergraph knowledge_assertion manual_agent HGNC:10910 MONDO:0100344 NCBIGene:116519 biolink:gene_associated_with_condition MONDO:0007788 infores:ubergraph knowledge_assertion manual_agent HGNC:17288 MONDO:0007788 NCBIGene:84172 biolink:gene_associated_with_condition MONDO:0030067 infores:ubergraph knowledge_assertion manual_agent HGNC:20454 MONDO:0030067 NCBIGene:5443 biolink:gene_associated_with_condition MONDO:0012335 infores:ubergraph knowledge_assertion manual_agent HGNC:9201 MONDO:0012335 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0013673 infores:ubergraph knowledge_assertion manual_agent HGNC:12762 MONDO:0013673 NCBIGene:283989 biolink:gene_associated_with_condition MONDO:0009166 infores:ubergraph knowledge_assertion manual_agent HGNC:27561 MONDO:0009166 NCBIGene:6392 biolink:gene_associated_with_condition MONDO:0030937 infores:ubergraph knowledge_assertion manual_agent HGNC:10683 MONDO:0030937 NCBIGene:6853 biolink:gene_associated_with_condition MONDO:0010339 infores:ubergraph knowledge_assertion manual_agent HGNC:11494 MONDO:0010339 NCBIGene:112858 biolink:gene_associated_with_condition MONDO:0033008 infores:ubergraph knowledge_assertion manual_agent HGNC:16197 MONDO:0033008 NCBIGene:11181 biolink:gene_associated_with_condition MONDO:0012803 infores:ubergraph knowledge_assertion manual_agent HGNC:12266 MONDO:0012803 NCBIGene:1896 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1896 MONDO:0700096 No evidence available 0 true NCBIGene:3508 biolink:gene_associated_with_condition MONDO:0011436 infores:clingen NCBIGene:3508 MONDO:0011436 Gene associated with autosomal recessive phenotype 30 NCBIGene:55209 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55209 MONDO:0700096 No evidence available 0 true NCBIGene:23312 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2938 MONDO:0019497 Limited 2020-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_746b46e8-0621-4879-80a1-4fb1679975be-2020-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23111 biolink:gene_associated_with_condition MONDO:0010156 infores:ubergraph knowledge_assertion manual_agent HGNC:18514 MONDO:0010156 NCBIGene:83449 biolink:gene_associated_with_condition MONDO:0020852 infores:ubergraph knowledge_assertion manual_agent HGNC:17728 MONDO:0020852 NCBIGene:3420 biolink:gene_associated_with_condition MONDO:0800393 infores:ubergraph knowledge_assertion manual_agent HGNC:5385 MONDO:0800393 NCBIGene:5105 biolink:gene_associated_with_condition MONDO:0009866 infores:ubergraph knowledge_assertion manual_agent HGNC:8724 MONDO:0009866 NCBIGene:7010 biolink:gene_associated_with_condition MONDO:0014998 infores:ubergraph knowledge_assertion manual_agent HGNC:11724 MONDO:0014998 NCBIGene:643418 biolink:gene_associated_with_condition MONDO:0013495 infores:ubergraph knowledge_assertion manual_agent HGNC:23452 MONDO:0013495 NCBIGene:953 biolink:gene_associated_with_condition MONDO:0014303 infores:ubergraph knowledge_assertion manual_agent HGNC:3363 MONDO:0014303 NCBIGene:120766137 biolink:gene_associated_with_condition MONDO:0100522 infores:ubergraph knowledge_assertion manual_agent HGNC:55085 MONDO:0100522 NCBIGene:9524 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen HGNC:4551 MONDO:0001071 Limited 2022-03-10T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c7adee2-6a14-4348-a018-9097954bd39d-2022-03-10T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:10501 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:10739 MONDO:0020074 Definitive 2025-01-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc080017-6a01-4da0-a9f5-e89710890a4c-2025-01-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2176 biolink:gene_associated_with_condition MONDO:0009213 infores:clingen NCBIGene:2176 MONDO:0009213 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf4881c3-15b3-4e10-bd24-2da80433863b-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6942 biolink:gene_associated_with_condition MONDO:0032745 infores:ubergraph knowledge_assertion manual_agent HGNC:11631 MONDO:0032745 NCBIGene:1756 biolink:gene_associated_with_condition MONDO:0700285 infores:ubergraph knowledge_assertion manual_agent HGNC:2928 MONDO:0700285 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8200 MONDO:0700096 No evidence available 0 true NCBIGene:50 biolink:gene_associated_with_condition MONDO:0013802 infores:ubergraph knowledge_assertion manual_agent HGNC:118 MONDO:0013802 NCBIGene:7750 biolink:gene_associated_with_condition MONDO:0859190 infores:ubergraph knowledge_assertion manual_agent HGNC:12989 MONDO:0859190 NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0015014 infores:ubergraph knowledge_assertion manual_agent HGNC:7105 MONDO:0015014 NCBIGene:84140 biolink:gene_associated_with_condition MONDO:0011630 infores:ubergraph knowledge_assertion manual_agent HGNC:25808 MONDO:0011630 NCBIGene:388753 biolink:gene_associated_with_condition MONDO:0014668 infores:ubergraph knowledge_assertion manual_agent HGNC:18025 MONDO:0014668 NCBIGene:6218 biolink:gene_associated_with_condition MONDO:0012924 infores:ubergraph knowledge_assertion manual_agent HGNC:10397 MONDO:0012924 NCBIGene:57167 biolink:gene_associated_with_condition MONDO:0011812 infores:ubergraph knowledge_assertion manual_agent HGNC:15924 MONDO:0011812 NCBIGene:22880 biolink:gene_associated_with_condition MONDO:0014736 infores:clingen HGNC:23573 MONDO:0014736 Definitive 2023-05-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d5168d-b00c-475c-a696-d740675fbc84-2023-05-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:167691 biolink:gene_associated_with_condition MONDO:0100445 infores:ubergraph knowledge_assertion manual_agent HGNC:31923 MONDO:0100445 NCBIGene:7422 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7422 MONDO:0700096 No evidence available 0 true NCBIGene:7169 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7169 MONDO:0700096 No evidence available 0 true NCBIGene:113220 biolink:gene_associated_with_condition MONDO:0030505 infores:ubergraph knowledge_assertion manual_agent HGNC:21495 MONDO:0030505 NCBIGene:112752 biolink:gene_associated_with_condition MONDO:0013573 infores:clingen NCBIGene:112752 MONDO:0013573 Gene associated with autosomal recessive phenotype 30 NCBIGene:157680 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:157680 MONDO:0700096 No evidence available 0 true NCBIGene:8893 biolink:gene_associated_with_condition MONDO:0957873 infores:ubergraph knowledge_assertion manual_agent HGNC:3261 MONDO:0957873 NCBIGene:11155 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:15710 MONDO:0016587 Disputed 2019-09-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ebdc3e8-2e0a-4a5e-8906-8e616d14008b-2019-09-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:128989 biolink:gene_associated_with_condition MONDO:0018820 infores:ubergraph knowledge_assertion manual_agent HGNC:25439 MONDO:0018820 NCBIGene:10282 biolink:gene_associated_with_condition MONDO:0009682 infores:ubergraph knowledge_assertion manual_agent HGNC:14562 MONDO:0009682 NCBIGene:6674 biolink:gene_associated_with_condition MONDO:0014216 infores:clingen HGNC:11212 MONDO:0014216 Definitive 2022-06-22T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0d43e40-0aa3-41cf-9e3a-8311e685c7be-2022-06-22T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:4023 biolink:gene_associated_with_condition MONDO:0007759 infores:ubergraph knowledge_assertion manual_agent HGNC:6677 MONDO:0007759 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0009231 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0009231 NCBIGene:368 biolink:gene_associated_with_condition MONDO:0100091 infores:clingen HGNC:57 MONDO:0100091 Definitive 2025-10-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18edfc74-3c10-4d05-81e1-6622e391efae-2025-10-22T160000.000Z SD Semidominant 0032113 NCBIGene:84892 biolink:gene_associated_with_condition MONDO:0700069 infores:clingen HGNC:25902 MONDO:0700069 Definitive 2024-08-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_522f3d3f-8026-439f-9318-2e4df6097a2e-2024-08-14T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:4092 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6773 MONDO:0005453 Limited 2024-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d9050fb-dd82-4fa9-aa2d-ef4b9f13f6b2-2024-05-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2296 biolink:gene_associated_with_condition MONDO:0100235 infores:ubergraph knowledge_assertion manual_agent HGNC:3800 MONDO:0100235 NCBIGene:50846 biolink:gene_associated_with_condition MONDO:0011766 infores:ubergraph knowledge_assertion manual_agent HGNC:2865 MONDO:0011766 NCBIGene:56704 biolink:gene_associated_with_condition MONDO:0975808 infores:ubergraph knowledge_assertion manual_agent HGNC:14201 MONDO:0975808 NCBIGene:2982 biolink:gene_associated_with_condition MONDO:0014331 infores:ubergraph knowledge_assertion manual_agent HGNC:4685 MONDO:0014331 NCBIGene:5993 biolink:gene_associated_with_condition MONDO:0008855 infores:clingen HGNC:9986 MONDO:0008855 Definitive 2023-06-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_430c4041-5e07-45d8-bea5-eaa925a18a72-2023-06-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7050 biolink:gene_associated_with_condition MONDO:0007734 infores:ubergraph knowledge_assertion manual_agent HGNC:11776 MONDO:0007734 NCBIGene:125336 biolink:gene_associated_with_condition MONDO:0013119 infores:ubergraph knowledge_assertion manual_agent HGNC:26521 MONDO:0013119 NCBIGene:7381 biolink:gene_associated_with_condition MONDO:0014064 infores:ubergraph knowledge_assertion manual_agent HGNC:12582 MONDO:0014064 NCBIGene:84334 biolink:gene_associated_with_condition MONDO:0033652 infores:ubergraph knowledge_assertion manual_agent HGNC:20492 MONDO:0033652 NCBIGene:84705 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14880 MONDO:0044970 Definitive 2024-05-23T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_393ee652-756b-4b54-9e0a-916bbae9d9eb-2024-05-23T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:112476 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:112476 MONDO:0700096 No evidence available 0 true NCBIGene:5255 biolink:gene_associated_with_condition MONDO:0010362 infores:ubergraph knowledge_assertion manual_agent HGNC:8925 MONDO:0010362 NCBIGene:25782 biolink:gene_associated_with_condition MONDO:0015159 infores:clingen NCBIGene:25782 MONDO:0015159 Gene associated with autosomal recessive phenotype 30 NCBIGene:3911 biolink:gene_associated_with_condition MONDO:0033856 infores:clingen HGNC:6485 MONDO:0033856 Definitive 2022-04-26T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afd69eb-1b10-4a25-b018-14cf0abf30af-2022-04-26T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:286204 biolink:gene_associated_with_condition MONDO:0014539 infores:clingen HGNC:18688 MONDO:0014539 Definitive 2021-10-26T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98f54e8c-a81c-4b3b-8dbb-05dd24c5dbcc-2021-10-26T013000.000Z AR Autosomal Recessive 0000007 NCBIGene:55023 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55023 MONDO:0700096 No evidence available 0 true NCBIGene:5573 biolink:gene_associated_with_condition MONDO:0007044 infores:ubergraph knowledge_assertion manual_agent HGNC:9388 MONDO:0007044 NCBIGene:2294 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2294 MONDO:0700096 No evidence available 0 true NCBIGene:56776 biolink:gene_associated_with_condition MONDO:0014524 infores:ubergraph knowledge_assertion manual_agent HGNC:14074 MONDO:0014524 NCBIGene:805 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:805 MONDO:0700096 No evidence available 0 true NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4041 MONDO:0700096 No evidence available 0 true NCBIGene:158 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:158 MONDO:0700096 No evidence available 0 true NCBIGene:2733 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:4315 MONDO:0004976 Limited 2023-10-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0284b3cd-38af-4309-8ce4-054a0379e693-2023-10-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:154288 biolink:gene_associated_with_condition MONDO:0013671 infores:ubergraph knowledge_assertion manual_agent HGNC:33699 MONDO:0013671 NCBIGene:23031 biolink:gene_associated_with_condition MONDO:0859314 infores:ubergraph knowledge_assertion manual_agent HGNC:19036 MONDO:0859314 NCBIGene:375748 biolink:gene_associated_with_condition MONDO:0014317 infores:clingen NCBIGene:375748 MONDO:0014317 Gene associated with autosomal recessive phenotype 30 NCBIGene:5076 biolink:gene_associated_with_condition MONDO:0007352 infores:clingen NCBIGene:5076 MONDO:0007352 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9897 biolink:gene_associated_with_condition MONDO:0009073 infores:clingen HGNC:28984 MONDO:0009073 Limited 2025-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9920b2c1-29bd-42db-be54-b9757f7c4f6b-2025-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1355 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1355 MONDO:0700096 No evidence available 0 true NCBIGene:23462 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4880 MONDO:0005453 Disputed 2024-08-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_634df453-b9c6-4b52-afc0-516603ef90d0-2024-08-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:89876 biolink:gene_associated_with_condition MONDO:0030926 infores:ubergraph knowledge_assertion manual_agent HGNC:24010 MONDO:0030926 NCBIGene:8802 biolink:gene_associated_with_condition MONDO:0009504 infores:clingen NCBIGene:8802 MONDO:0009504 Gene associated with autosomal recessive phenotype 30 NCBIGene:51086 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:19661 MONDO:0005021 Moderate 2025-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5ce5790-8940-4d7a-a85c-8682be86939d-2025-09-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55750 biolink:gene_associated_with_condition MONDO:0013859 infores:ubergraph knowledge_assertion manual_agent HGNC:21869 MONDO:0013859 NCBIGene:348980 biolink:gene_associated_with_condition MONDO:0032777 infores:ubergraph knowledge_assertion manual_agent HGNC:4845 MONDO:0032777 NCBIGene:79576 biolink:gene_associated_with_condition MONDO:0026733 infores:ubergraph knowledge_assertion manual_agent HGNC:29873 MONDO:0026733 NCBIGene:4613 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4613 MONDO:0700096 No evidence available 0 true NCBIGene:25782 biolink:gene_associated_with_condition MONDO:8000008 infores:ubergraph knowledge_assertion manual_agent HGNC:17168 MONDO:8000008 NCBIGene:3029 biolink:gene_associated_with_condition MONDO:0013535 infores:ubergraph knowledge_assertion manual_agent HGNC:4805 MONDO:0013535 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0007608 infores:ubergraph knowledge_assertion manual_agent HGNC:583 MONDO:0007608 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0008795 infores:clingen HGNC:6180 MONDO:0008795 Definitive 2025-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a848b265-8aa3-41ee-83cc-9287afe0f9d0-2025-01-23T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:871 biolink:gene_associated_with_condition MONDO:0013459 infores:ubergraph knowledge_assertion manual_agent HGNC:1546 MONDO:0013459 MONDO:0017326 biolink:gene_associated_with_condition MONDO:0850332 infores:ubergraph knowledge_assertion manual_agent NCIT:C129260 NCIT:C185167 NCBIGene:6855 biolink:gene_associated_with_condition MONDO:0010429 infores:ubergraph knowledge_assertion manual_agent HGNC:11506 MONDO:0010429 NCBIGene:6890 biolink:gene_associated_with_condition MONDO:0971006 infores:ubergraph knowledge_assertion manual_agent HGNC:43 MONDO:0971006 NCBIGene:57477 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:29215 MONDO:0100148 Disputed 2021-01-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a94d20f8-9909-48b2-9860-d17c6dc73ec3-2021-01-13T170000.000Z XL X-linked 0001417 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0014227 infores:ubergraph knowledge_assertion manual_agent HGNC:3356 MONDO:0014227 NCBIGene:116442 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:116442 MONDO:0700096 No evidence available 0 true NCBIGene:59269 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:59269 MONDO:0700096 No evidence available 0 true NCBIGene:2255 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2255 MONDO:0700096 No evidence available 0 true NCBIGene:212 biolink:gene_associated_with_condition MONDO:0010420 infores:clingen HGNC:397 MONDO:0010420 Definitive 2022-03-27T18:17:00.091Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e658f9-fdc9-4b3c-8788-80eb1ad83b0b-2022-03-27T181700.091Z XL X-linked 0001417 NCBIGene:5286 biolink:gene_associated_with_condition MONDO:0034145 infores:ubergraph knowledge_assertion manual_agent HGNC:8971 MONDO:0034145 NCBIGene:2653 biolink:gene_associated_with_condition MONDO:0957382 infores:ubergraph knowledge_assertion manual_agent HGNC:4208 MONDO:0957382 NCBIGene:7476 biolink:gene_associated_with_condition MONDO:0019713 infores:clingen NCBIGene:7476 MONDO:0019713 Gene associated with autosomal recessive phenotype 30 NCBIGene:10667 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:10667 MONDO:0009723 Moderate 2019-11-25T14:47:56.827Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf7594a-d934-4b6c-8052-94066d608c5a-2019-11-25T144756.827Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:285203 biolink:gene_associated_with_condition MONDO:0014124 infores:ubergraph knowledge_assertion manual_agent HGNC:28526 MONDO:0014124 NCBIGene:4565 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:7488 MONDO:0005045 Moderate 2023-12-18T01:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ac07ab9-8580-4fbf-b599-35dd25f3025d-2023-12-18T010000.000Z MT Mitochondrial 0001427 NCBIGene:2066 biolink:gene_associated_with_condition MONDO:0014223 infores:clingen HGNC:3432 MONDO:0014223 Limited 2021-09-30T14:31:44.993Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdd26ab6-0c1f-4322-9f70-cad651bb789f-2021-09-30T143144.993Z AD Autosomal Dominant 0000006 NCBIGene:6884 biolink:gene_associated_with_condition MONDO:0005090 infores:clingen NCBIGene:6884 MONDO:0005090 true Little evidence for dosage pathogenicity 1 NCBIGene:494551 biolink:gene_associated_with_condition MONDO:0020837 infores:ubergraph knowledge_assertion manual_agent HGNC:19684 MONDO:0020837 NCBIGene:9913 biolink:gene_associated_with_condition MONDO:0700301 infores:ubergraph knowledge_assertion manual_agent HGNC:30632 MONDO:0700301 NCBIGene:5269 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5269 MONDO:0700096 No evidence available 0 true NCBIGene:126326 biolink:gene_associated_with_condition MONDO:0011160 infores:ubergraph knowledge_assertion manual_agent HGNC:18183 MONDO:0011160 NCBIGene:7306 biolink:gene_associated_with_condition MONDO:0008747 infores:ubergraph knowledge_assertion manual_agent HGNC:12450 MONDO:0008747 NCBIGene:8526 biolink:gene_associated_with_condition MONDO:0018159 infores:clingen HGNC:2852 MONDO:0018159 Definitive 2025-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14eaa3eb-1b94-4ae3-a233-7e47e6817021-2025-04-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:22983 biolink:gene_associated_with_condition MONDO:0032648 infores:ubergraph knowledge_assertion manual_agent HGNC:19034 MONDO:0032648 NCBIGene:64840 biolink:gene_associated_with_condition MONDO:0010592 infores:ubergraph knowledge_assertion manual_agent HGNC:17652 MONDO:0010592 NCBIGene:124093 biolink:gene_associated_with_condition MONDO:0013890 infores:ubergraph knowledge_assertion manual_agent HGNC:14153 MONDO:0013890 NCBIGene:8890 biolink:gene_associated_with_condition MONDO:0957872 infores:clingen HGNC:3260 MONDO:0957872 Definitive 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3c95d30-0045-4bf9-8529-3c701bb1eab5-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51651 biolink:gene_associated_with_condition MONDO:8000012 infores:ubergraph knowledge_assertion manual_agent HGNC:24265 MONDO:8000012 NCBIGene:1387 biolink:gene_associated_with_condition MONDO:0008393 infores:clingen NCBIGene:1387 MONDO:0008393 Sufficient evidence for dosage pathogenicity 3 NCBIGene:25836 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25836 MONDO:0700096 Little evidence for dosage pathogenicity 1 true NCBIGene:22858 biolink:gene_associated_with_condition MONDO:0012980 infores:ubergraph knowledge_assertion manual_agent HGNC:21219 MONDO:0012980 NCBIGene:51360 biolink:gene_associated_with_condition MONDO:0049223 infores:ubergraph knowledge_assertion manual_agent HGNC:15455 MONDO:0049223 NCBIGene:5077 biolink:gene_associated_with_condition MONDO:0018094 infores:clingen HGNC:8617 MONDO:0018094 Definitive 2017-11-15T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_594ef026-3730-43bc-b721-d15cf0bbbf26-2017-11-15T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:9897 biolink:gene_associated_with_condition MONDO:0009073 infores:ubergraph knowledge_assertion manual_agent HGNC:28984 MONDO:0009073 NCBIGene:2290 biolink:gene_associated_with_condition MONDO:0100040 infores:ubergraph knowledge_assertion manual_agent HGNC:3811 MONDO:0100040 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0012314 infores:ubergraph knowledge_assertion manual_agent HGNC:6263 MONDO:0012314 NCBIGene:261734 biolink:gene_associated_with_condition MONDO:0011756 infores:clingen NCBIGene:261734 MONDO:0011756 Gene associated with autosomal recessive phenotype 30 NCBIGene:84920 biolink:gene_associated_with_condition MONDO:0015286 infores:clingen HGNC:23162 MONDO:0015286 Limited 2025-04-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477a729b-ac93-4873-8c3e-ba95d1080381-2025-04-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:91461 biolink:gene_associated_with_condition MONDO:0032935 infores:ubergraph knowledge_assertion manual_agent HGNC:25123 MONDO:0032935 NCBIGene:463 biolink:gene_associated_with_condition MONDO:0013100 infores:ubergraph knowledge_assertion manual_agent HGNC:777 MONDO:0013100 NCBIGene:2290 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2290 MONDO:0700096 No evidence available 0 true NCBIGene:6327 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:10589 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10159 AD Autosomal Dominant 0000006 NCBIGene:26058 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26058 MONDO:0700096 No evidence available 0 true NCBIGene:8398 biolink:gene_associated_with_condition MONDO:0017998 infores:ubergraph knowledge_assertion manual_agent HGNC:9039 MONDO:0017998 NCBIGene:23233 biolink:gene_associated_with_condition MONDO:0032724 infores:ubergraph knowledge_assertion manual_agent HGNC:17085 MONDO:0032724 NCBIGene:6584 biolink:gene_associated_with_condition MONDO:0008919 infores:ubergraph knowledge_assertion manual_agent HGNC:10969 MONDO:0008919 NCBIGene:10410 biolink:gene_associated_with_condition MONDO:0013855 infores:ubergraph knowledge_assertion manual_agent HGNC:5414 MONDO:0013855 NCBIGene:2328 biolink:gene_associated_with_condition MONDO:0011182 infores:clingen HGNC:3771 MONDO:0011182 Definitive 2020-08-14T18:47:18.502Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18ed3960-c745-46f1-aecc-155e713d6ef5-2020-08-14T184718.502Z AR Autosomal Recessive 0000007 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0007037 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0007037 NCBIGene:10269 biolink:gene_associated_with_condition MONDO:0012074 infores:clingen HGNC:12877 MONDO:0012074 Definitive 2022-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3aecf4af-4d2d-4d50-a681-9f4973cc985a-2022-06-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79784 biolink:gene_associated_with_condition MONDO:0010915 infores:ubergraph knowledge_assertion manual_agent HGNC:23212 MONDO:0010915 NCBIGene:7345 biolink:gene_associated_with_condition MONDO:0014209 infores:ubergraph knowledge_assertion manual_agent HGNC:12513 MONDO:0014209 NCBIGene:4342 biolink:gene_associated_with_condition MONDO:0957278 infores:ubergraph knowledge_assertion manual_agent HGNC:7199 MONDO:0957278 NCBIGene:9663 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9663 MONDO:0700096 No evidence available 0 true NCBIGene:3176 biolink:gene_associated_with_condition MONDO:0014759 infores:ubergraph knowledge_assertion manual_agent HGNC:5028 MONDO:0014759 NCBIGene:8647 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8647 MONDO:0700096 No evidence available 0 true NCBIGene:136647 biolink:gene_associated_with_condition MONDO:0021013 infores:ubergraph knowledge_assertion manual_agent HGNC:16002 MONDO:0021013 NCBIGene:29887 biolink:gene_associated_with_condition MONDO:0014040 infores:ubergraph knowledge_assertion manual_agent HGNC:14974 MONDO:0014040 NCBIGene:2904 biolink:gene_associated_with_condition MONDO:0013509 infores:clingen NCBIGene:2904 MONDO:0013509 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1617 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1617 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7174 biolink:gene_associated_with_condition MONDO:0030971 infores:ubergraph knowledge_assertion manual_agent HGNC:12016 MONDO:0030971 NCBIGene:4841 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4841 MONDO:0700096 No evidence available 0 true NCBIGene:27247 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:16287 MONDO:0044970 Definitive 2023-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1adb01f7-d226-4f55-ab00-adb513c20e80-2023-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6326 biolink:gene_associated_with_condition MONDO:0013388 infores:ubergraph knowledge_assertion manual_agent HGNC:10588 MONDO:0013388 NCBIGene:376132 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:20264 MONDO:0005021 No Known Disease Relationship 2024-08-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7403d325-ff12-4c92-a308-b2054e9861c5-2024-08-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10564 biolink:gene_associated_with_condition MONDO:0011966 infores:clingen HGNC:15853 MONDO:0011966 Definitive 2023-09-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_814507e0-e6cd-4bce-a4c6-4d1caa61cfc3-2023-09-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6439 biolink:gene_associated_with_condition MONDO:0009929 infores:ubergraph knowledge_assertion manual_agent HGNC:10801 MONDO:0009929 NCBIGene:4935 biolink:gene_associated_with_condition MONDO:0700230 infores:ubergraph knowledge_assertion manual_agent HGNC:20145 MONDO:0700230 NCBIGene:4714 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7703 MONDO:0009723 Moderate 2021-01-21T00:44:58.566Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bef2c930-4b79-4938-8325-94a0f58cdfd9-2021-01-21T004458.566Z AR Autosomal Recessive 0000007 NCBIGene:1441 biolink:gene_associated_with_condition MONDO:0008092 infores:ubergraph knowledge_assertion manual_agent HGNC:2439 MONDO:0008092 NCBIGene:4015 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:6664 MONDO:0019625 Strong 2016-07-25T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8258 AD Autosomal Dominant 0000006 NCBIGene:26007 biolink:gene_associated_with_condition MONDO:0032927 infores:ubergraph knowledge_assertion manual_agent HGNC:24552 MONDO:0032927 NCBIGene:8309 biolink:gene_associated_with_condition MONDO:0015015 infores:ubergraph knowledge_assertion manual_agent HGNC:120 MONDO:0015015 NCBIGene:26038 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:26038 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:79784 biolink:gene_associated_with_condition MONDO:0013711 infores:ubergraph knowledge_assertion manual_agent HGNC:23212 MONDO:0013711 NCBIGene:2300 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3817 MONDO:0005453 Disputed 2023-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e6540a7-3e81-47b1-a74f-7d0328f34ce1-2023-11-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84833 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:30889 MONDO:0044970 Moderate 2024-04-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b48db69-0e48-47b6-bbd3-4c09ade82a73-2024-04-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:10516 biolink:gene_associated_with_condition MONDO:0013751 infores:ubergraph knowledge_assertion manual_agent HGNC:3602 MONDO:0013751 NCBIGene:338427 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:338427 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:55623 biolink:gene_associated_with_condition MONDO:0859272 infores:ubergraph knowledge_assertion manual_agent HGNC:23807 MONDO:0859272 NCBIGene:4860 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4860 MONDO:0700096 No evidence available 0 true NCBIGene:23516 biolink:gene_associated_with_condition MONDO:0014864 infores:ubergraph knowledge_assertion manual_agent HGNC:20858 MONDO:0014864 NCBIGene:23347 biolink:gene_associated_with_condition MONDO:0011323 infores:ubergraph knowledge_assertion manual_agent HGNC:29090 MONDO:0011323 NCBIGene:407 biolink:gene_associated_with_condition MONDO:0049221 infores:ubergraph knowledge_assertion manual_agent HGNC:710 MONDO:0049221 NCBIGene:8547 biolink:gene_associated_with_condition MONDO:0013467 infores:ubergraph knowledge_assertion manual_agent HGNC:3625 MONDO:0013467 NCBIGene:6509 biolink:gene_associated_with_condition MONDO:0014725 infores:clingen HGNC:10942 MONDO:0014725 Definitive 2021-05-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cff4bb6-caab-4696-a061-1f9a40c56c80-2021-05-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:140801 biolink:gene_associated_with_condition MONDO:0030515 infores:ubergraph knowledge_assertion manual_agent HGNC:17976 MONDO:0030515 NCBIGene:649 biolink:gene_associated_with_condition MONDO:0013924 infores:ubergraph knowledge_assertion manual_agent HGNC:1067 MONDO:0013924 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0100509 infores:clingen HGNC:29077 MONDO:0100509 Definitive 2022-07-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4bc5837-07d2-46e5-836e-500a978bbf25-2022-07-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9531 biolink:gene_associated_with_condition MONDO:0013479 infores:ubergraph knowledge_assertion manual_agent HGNC:939 MONDO:0013479 NCBIGene:1495 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1495 MONDO:0700096 No evidence available 0 true NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0007077 infores:ubergraph knowledge_assertion manual_agent HGNC:7105 MONDO:0007077 NCBIGene:10383 biolink:gene_associated_with_condition MONDO:1060115 infores:clingen HGNC:20771 MONDO:1060115 Definitive 2025-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b80d55d-0060-4b1c-849b-648011337400-2025-06-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:348932 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:348932 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:10472 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10472 MONDO:0700096 No evidence available 0 true NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0008146 infores:ubergraph knowledge_assertion manual_agent HGNC:2197 MONDO:0008146 NCBIGene:80816 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80816 MONDO:0700096 No evidence available 0 true NCBIGene:613 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:613 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1834 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1834 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2937 biolink:gene_associated_with_condition MONDO:0009284 infores:ubergraph knowledge_assertion manual_agent HGNC:4624 MONDO:0009284 NCBIGene:2729 biolink:gene_associated_with_condition MONDO:0009259 infores:ubergraph knowledge_assertion manual_agent HGNC:4311 MONDO:0009259 NCBIGene:1584 biolink:gene_associated_with_condition MONDO:0007080 infores:ubergraph knowledge_assertion manual_agent HGNC:2591 MONDO:0007080 NCBIGene:91179 biolink:gene_associated_with_condition MONDO:0010959 infores:ubergraph knowledge_assertion manual_agent HGNC:19869 MONDO:0010959 NCBIGene:6729 biolink:gene_associated_with_condition MONDO:0032899 infores:ubergraph knowledge_assertion manual_agent HGNC:11301 MONDO:0032899 NCBIGene:146183 biolink:gene_associated_with_condition MONDO:0011762 infores:ubergraph knowledge_assertion manual_agent HGNC:16378 MONDO:0011762 NCBIGene:10059 biolink:gene_associated_with_condition MONDO:0013726 infores:ubergraph knowledge_assertion manual_agent HGNC:2973 MONDO:0013726 NCBIGene:7385 biolink:gene_associated_with_condition MONDO:0014066 infores:ubergraph knowledge_assertion manual_agent HGNC:12586 MONDO:0014066 NCBIGene:5340 biolink:gene_associated_with_condition MONDO:0025712 infores:ubergraph knowledge_assertion manual_agent HGNC:9071 MONDO:0025712 NCBIGene:57158 biolink:gene_associated_with_condition MONDO:0030366 infores:ubergraph knowledge_assertion manual_agent HGNC:14202 MONDO:0030366 NCBIGene:2737 biolink:gene_associated_with_condition MONDO:0008266 infores:ubergraph knowledge_assertion manual_agent HGNC:4319 MONDO:0008266 NCBIGene:23418 biolink:gene_associated_with_condition MONDO:0013453 infores:ubergraph knowledge_assertion manual_agent HGNC:2343 MONDO:0013453 NCBIGene:8419 biolink:gene_associated_with_condition MONDO:0012701 infores:ubergraph knowledge_assertion manual_agent HGNC:1041 MONDO:0012701 NCBIGene:55172 biolink:gene_associated_with_condition MONDO:0012918 infores:clingen HGNC:20188 MONDO:0012918 Definitive 2024-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39e5de96-3f16-4dde-a7bc-b3e27364b7f8-2024-02-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:348654 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:26881 MONDO:0016248 No Known Disease Relationship 2017-01-11T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8692 AD Autosomal Dominant 0000006 NCBIGene:112817 biolink:gene_associated_with_condition MONDO:0013327 infores:clingen HGNC:25155 MONDO:0013327 Definitive 2024-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c6ee29c-08c1-4cdd-b78d-9a5bda8ace20-2024-05-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1131 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1131 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:116461 biolink:gene_associated_with_condition MONDO:0014874 infores:ubergraph knowledge_assertion manual_agent HGNC:16791 MONDO:0014874 NCBIGene:10102 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:12367 MONDO:0044970 Definitive 2023-09-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ed7fa3d-6d20-4570-89c0-f83eb0cf3588-2023-09-06T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:4747 biolink:gene_associated_with_condition MONDO:0036484 infores:ubergraph knowledge_assertion manual_agent HGNC:7739 MONDO:0036484 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0012953 infores:ubergraph knowledge_assertion manual_agent HGNC:9175 MONDO:0012953 NCBIGene:79053 biolink:gene_associated_with_condition MONDO:1060122 infores:ubergraph knowledge_assertion manual_agent HGNC:23161 MONDO:1060122 NCBIGene:4632 biolink:gene_associated_with_condition MONDO:0019952 infores:clingen HGNC:7582 MONDO:0019952 Limited 2025-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c69fb71-4553-473e-94b7-a8c34af84739-2025-02-24T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84146 biolink:gene_associated_with_condition MONDO:0013604 infores:ubergraph knowledge_assertion manual_agent HGNC:29222 MONDO:0013604 NCBIGene:11019 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:16429 MONDO:0009723 Limited 2021-03-11T17:19:36.261Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec6f6c96-262d-4ab8-ab7a-b09d585689ca-2021-03-11T171936.261Z AR Autosomal Recessive 0000007 NCBIGene:6640 biolink:gene_associated_with_condition MONDO:0013062 infores:ubergraph knowledge_assertion manual_agent HGNC:11167 MONDO:0013062 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0100316 infores:ubergraph knowledge_assertion manual_agent HGNC:6294 MONDO:0100316 NCBIGene:122046 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:122046 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:9401 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:9949 MONDO:0005453 No Known Disease Relationship 2025-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_542917be-3b90-477b-a427-3f8ee0550dea-2025-02-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84342 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84342 MONDO:0700096 No evidence available 0 true NCBIGene:55739 biolink:gene_associated_with_condition MONDO:0034121 infores:ubergraph knowledge_assertion manual_agent HGNC:25576 MONDO:0034121 NCBIGene:5450 biolink:gene_associated_with_condition MONDO:0015977 infores:clingen HGNC:9211 MONDO:0015977 Limited 2022-09-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfebbac7-4e4e-4bd6-8977-1b490e915f45-2022-09-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:182 biolink:gene_associated_with_condition MONDO:0016862 infores:clingen NCBIGene:182 MONDO:0016862 Definitive 2025-04-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c711c455-29cf-40dc-b064-d603337b834c-2025-04-14T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7994 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:13013 MONDO:0000508 Definitive 2021-10-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86ec74ba-6b12-42ea-bc06-58af4fd6b7a4-2021-10-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2067 biolink:gene_associated_with_condition MONDO:0012554 infores:clingen NCBIGene:2067 MONDO:0012554 Gene associated with autosomal recessive phenotype 30 NCBIGene:2554 biolink:gene_associated_with_condition MONDO:0014328 infores:ubergraph knowledge_assertion manual_agent HGNC:4075 MONDO:0014328 NCBIGene:80232 biolink:gene_associated_with_condition MONDO:0054636 infores:clingen NCBIGene:80232 MONDO:0054636 Definitive 2023-07-19T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb1cc149-1bbe-48be-9518-03d9f3e83148-2023-07-19T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1352 biolink:gene_associated_with_condition MONDO:0033635 infores:ubergraph knowledge_assertion manual_agent HGNC:2260 MONDO:0033635 NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:7989 MONDO:0018997 Definitive 2018-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34419b69-59c3-458b-a2a5-38a401679deb-2018-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:356 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:356 MONDO:0700096 No evidence available 0 true NCBIGene:9056 biolink:gene_associated_with_condition MONDO:0009109 infores:ubergraph knowledge_assertion manual_agent HGNC:11065 MONDO:0009109 NCBIGene:126326 biolink:gene_associated_with_condition MONDO:0011160 infores:clingen NCBIGene:126326 MONDO:0011160 Gene associated with autosomal recessive phenotype 30 NCBIGene:10320 biolink:gene_associated_with_condition MONDO:0007179 infores:clingen HGNC:13176 MONDO:0007179 Moderate 2022-08-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a839a0c3-f5c6-4286-9d04-cd9347fefb00-2022-08-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3077 biolink:gene_associated_with_condition MONDO:0006507 infores:clingen NCBIGene:3077 MONDO:0006507 Gene associated with autosomal recessive phenotype 30 NCBIGene:11101 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:782 MONDO:0005453 Disputed 2023-08-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_091bbd85-831a-4628-92f4-b2487d837eb6-2023-08-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0007422 infores:ubergraph knowledge_assertion manual_agent HGNC:4284 MONDO:0007422 NCBIGene:94 biolink:gene_associated_with_condition MONDO:0010880 infores:ubergraph knowledge_assertion manual_agent HGNC:175 MONDO:0010880 NCBIGene:6101 biolink:gene_associated_with_condition MONDO:0800399 infores:clingen HGNC:10263 MONDO:0800399 Definitive 2022-07-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cbd531f-7c23-4745-a3da-38a2db421fc3-2022-07-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8905 biolink:gene_associated_with_condition MONDO:0010574 infores:ubergraph knowledge_assertion manual_agent HGNC:560 MONDO:0010574 NCBIGene:1029 biolink:gene_associated_with_condition MONDO:0007964 infores:clingen NCBIGene:1029 MONDO:0007964 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8050 biolink:gene_associated_with_condition MONDO:0009503 infores:clingen NCBIGene:8050 MONDO:0009503 Gene associated with autosomal recessive phenotype 30 NCBIGene:132 biolink:gene_associated_with_condition MONDO:0100255 infores:clingen HGNC:257 MONDO:0100255 Definitive 2021-04-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2319ca2-652d-411e-ab6d-5b7fb7e185ea-2021-04-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57688 biolink:gene_associated_with_condition MONDO:0060642 infores:ubergraph knowledge_assertion manual_agent HGNC:29316 MONDO:0060642 NCBIGene:8754 biolink:gene_associated_with_condition MONDO:0800398 infores:ubergraph knowledge_assertion manual_agent HGNC:216 MONDO:0800398 NCBIGene:93166 biolink:gene_associated_with_condition MONDO:0024266 infores:ubergraph knowledge_assertion manual_agent HGNC:9350 MONDO:0024266 NCBIGene:1428 biolink:gene_associated_with_condition MONDO:0014603 infores:ubergraph knowledge_assertion manual_agent HGNC:2418 MONDO:0014603 NCBIGene:3425 biolink:gene_associated_with_condition MONDO:0011759 infores:ubergraph knowledge_assertion manual_agent HGNC:5391 MONDO:0011759 NCBIGene:6873 biolink:gene_associated_with_condition MONDO:0014273 infores:clingen NCBIGene:6873 MONDO:0014273 Gene associated with autosomal recessive phenotype 30 NCBIGene:6138 biolink:gene_associated_with_condition MONDO:0014245 infores:ubergraph knowledge_assertion manual_agent HGNC:10306 MONDO:0014245 NCBIGene:1053 biolink:gene_associated_with_condition MONDO:0044207 infores:ubergraph knowledge_assertion manual_agent HGNC:1836 MONDO:0044207 NCBIGene:186 biolink:gene_associated_with_condition MONDO:0010454 infores:clingen NCBIGene:186 MONDO:0010454 true No evidence available 0 NCBIGene:6942 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6942 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9841 biolink:gene_associated_with_condition MONDO:0013553 infores:clingen NCBIGene:9841 MONDO:0013553 Definitive 2025-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2bf2f73-198b-43d5-adf6-4a688772715f-2025-07-17T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4582 biolink:gene_associated_with_condition MONDO:0020726 infores:clingen HGNC:7508 MONDO:0020726 Definitive 2021-01-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_effa2b38-35c6-4071-b0d1-ce6970bb6ec1-2021-01-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2334 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:3776 MONDO:0019181 Definitive 2025-08-11T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4216e3-61b7-4542-ad3a-8788a7ef8b63-2025-08-11T100000.000Z XL X-linked 0001417 NCBIGene:27241 biolink:gene_associated_with_condition MONDO:0700236 infores:ubergraph knowledge_assertion manual_agent HGNC:30000 MONDO:0700236 NCBIGene:189 biolink:gene_associated_with_condition MONDO:0009823 infores:clingen NCBIGene:189 MONDO:0009823 Gene associated with autosomal recessive phenotype 30 NCBIGene:6223 biolink:gene_associated_with_condition MONDO:0007110 infores:clingen NCBIGene:6223 MONDO:0007110 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7134 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:11943 MONDO:0016587 No Known Disease Relationship 2019-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bea34b8c-4260-4dce-bcb3-69be7eb1aa21-2019-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10126 biolink:gene_associated_with_condition MONDO:0014478 infores:ubergraph knowledge_assertion manual_agent HGNC:2955 MONDO:0014478 NCBIGene:5336 biolink:gene_associated_with_condition MONDO:0013766 infores:ubergraph knowledge_assertion manual_agent HGNC:9066 MONDO:0013766 NCBIGene:79188 biolink:gene_associated_with_condition MONDO:0011459 infores:ubergraph knowledge_assertion manual_agent HGNC:28472 MONDO:0011459 NCBIGene:55120 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55120 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:6529 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6529 MONDO:0700096 No evidence available 0 true NCBIGene:51305 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51305 MONDO:0700096 No evidence available 0 true NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1482 MONDO:0700096 No evidence available 0 true NCBIGene:23568 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:17146 MONDO:0005308 Definitive 2025-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afe2baae-73d8-4f77-a106-a9163dbde4ce-2025-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0018240 infores:clingen HGNC:18083 MONDO:0018240 Definitive 2023-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13bce420-9049-41ae-b1e8-ebcae68a3f9e-2023-10-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2335 biolink:gene_associated_with_condition MONDO:0008479 infores:ubergraph knowledge_assertion manual_agent HGNC:3778 MONDO:0008479 NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0013409 infores:ubergraph knowledge_assertion manual_agent HGNC:3438 MONDO:0013409 NCBIGene:9568 biolink:gene_associated_with_condition MONDO:0060659 infores:ubergraph knowledge_assertion manual_agent HGNC:4507 MONDO:0060659 NCBIGene:4072 biolink:gene_associated_with_condition MONDO:0013196 infores:ubergraph knowledge_assertion manual_agent HGNC:11529 MONDO:0013196 NCBIGene:9896 biolink:gene_associated_with_condition MONDO:0008995 infores:ubergraph knowledge_assertion manual_agent HGNC:16873 MONDO:0008995 NCBIGene:3110 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3110 MONDO:0700096 No evidence available 0 true NCBIGene:4208 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:6996 MONDO:0100038 Definitive 2019-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34354e8f-4343-4fba-82ba-e49579e504bb-2019-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10551 biolink:gene_associated_with_condition MONDO:0859370 infores:ubergraph knowledge_assertion manual_agent HGNC:328 MONDO:0859370 NCBIGene:129607 biolink:gene_associated_with_condition MONDO:0975875 infores:ubergraph knowledge_assertion manual_agent HGNC:27015 MONDO:0975875 NCBIGene:55112 biolink:gene_associated_with_condition MONDO:0014214 infores:ubergraph knowledge_assertion manual_agent HGNC:21862 MONDO:0014214 NCBIGene:219285 biolink:gene_associated_with_condition MONDO:1060111 infores:clingen HGNC:1349 MONDO:1060111 Definitive 2025-01-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b553726-ca22-4116-bb50-373089ac4cb6-2025-01-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8328 biolink:gene_associated_with_condition MONDO:0008553 infores:ubergraph knowledge_assertion manual_agent HGNC:4238 MONDO:0008553 NCBIGene:23321 biolink:gene_associated_with_condition MONDO:0014208 infores:clingen NCBIGene:23321 MONDO:0014208 Gene associated with autosomal recessive phenotype 30 NCBIGene:3918 biolink:gene_associated_with_condition MONDO:0030748 infores:ubergraph knowledge_assertion manual_agent HGNC:6493 MONDO:0030748 NCBIGene:84987 biolink:gene_associated_with_condition MONDO:0033639 infores:ubergraph knowledge_assertion manual_agent HGNC:28216 MONDO:0033639 NCBIGene:5156 biolink:gene_associated_with_condition MONDO:0008285 infores:ubergraph knowledge_assertion manual_agent HGNC:8803 MONDO:0008285 NCBIGene:4281 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4281 MONDO:0700096 No evidence available 0 true NCBIGene:10381 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10381 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2819 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2819 MONDO:0700096 No evidence available 0 true NCBIGene:55624 biolink:gene_associated_with_condition MONDO:0700068 infores:ubergraph knowledge_assertion manual_agent HGNC:19139 MONDO:0700068 NCBIGene:7862 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7862 MONDO:0700096 No evidence available 0 true NCBIGene:57192 biolink:gene_associated_with_condition MONDO:0010425 infores:ubergraph knowledge_assertion manual_agent HGNC:13356 MONDO:0010425 NCBIGene:2811 biolink:gene_associated_with_condition MONDO:0009276 infores:clingen HGNC:4439 MONDO:0009276 Definitive 2020-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e3aa94f-1e87-4806-bc47-2f8c40e3d1bc-2020-05-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4645 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4645 MONDO:0700096 No evidence available 0 true NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0060592 infores:clingen HGNC:12428 MONDO:0060592 Limited 2021-03-26T21:32:22.762Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14ba10ad-ebb5-491f-b4d6-639890ab7ab9-2021-03-26T213222.762Z AD Autosomal Dominant 0000006 NCBIGene:7138 biolink:gene_associated_with_condition MONDO:0957281 infores:ubergraph knowledge_assertion manual_agent HGNC:11948 MONDO:0957281 NCBIGene:2332 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2332 MONDO:0700096 No evidence available 0 true NCBIGene:54 biolink:gene_associated_with_condition MONDO:0011939 infores:ubergraph knowledge_assertion manual_agent HGNC:124 MONDO:0011939 NCBIGene:4747 biolink:gene_associated_with_condition MONDO:0018993 infores:clingen HGNC:7739 MONDO:0018993 Definitive 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49d4cf82-b365-456e-9e35-2b28a66b71ec-2023-01-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:26128 biolink:gene_associated_with_condition MONDO:0012280 infores:ubergraph knowledge_assertion manual_agent HGNC:23419 MONDO:0012280 NCBIGene:79695 biolink:gene_associated_with_condition MONDO:0012132 infores:ubergraph knowledge_assertion manual_agent HGNC:19877 MONDO:0012132 NCBIGene:5091 biolink:gene_associated_with_condition MONDO:0009949 infores:ubergraph knowledge_assertion manual_agent HGNC:8636 MONDO:0009949 NCBIGene:326 biolink:gene_associated_with_condition MONDO:0009411 infores:clingen HGNC:360 MONDO:0009411 Definitive 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8a4a9cc-050b-46dc-b24a-af6a53517274-2024-11-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:65250 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:65250 MONDO:0700096 No evidence available 0 true NCBIGene:4760 biolink:gene_associated_with_condition MONDO:0011668 infores:ubergraph knowledge_assertion manual_agent HGNC:7762 MONDO:0011668 NCBIGene:6905 biolink:gene_associated_with_condition MONDO:0014968 infores:clingen HGNC:11582 MONDO:0014968 Moderate 2025-02-25T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f9500f5-48e8-49dc-b29a-3845056778ab-2025-02-25T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:94 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:94 MONDO:0700096 No evidence available 0 true NCBIGene:246329 biolink:gene_associated_with_condition MONDO:0009722 infores:ubergraph knowledge_assertion manual_agent HGNC:28423 MONDO:0009722 NCBIGene:4038 biolink:gene_associated_with_condition MONDO:0008931 infores:ubergraph knowledge_assertion manual_agent HGNC:6696 MONDO:0008931 NCBIGene:55037 biolink:gene_associated_with_condition MONDO:0033631 infores:ubergraph knowledge_assertion manual_agent HGNC:24717 MONDO:0033631 NCBIGene:11078 biolink:gene_associated_with_condition MONDO:0019588 infores:clingen HGNC:17009 MONDO:0019588 Definitive 2017-06-06T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9543 AR Autosomal Recessive 0000007 NCBIGene:7125 biolink:gene_associated_with_condition MONDO:0859335 infores:ubergraph knowledge_assertion manual_agent HGNC:11944 MONDO:0859335 NCBIGene:5350 biolink:gene_associated_with_condition MONDO:0012362 infores:ubergraph knowledge_assertion manual_agent HGNC:9080 MONDO:0012362 NCBIGene:2796 biolink:gene_associated_with_condition MONDO:0013914 infores:clingen NCBIGene:2796 MONDO:0013914 Gene associated with autosomal recessive phenotype 30 NCBIGene:6445 biolink:gene_associated_with_condition MONDO:0016143 infores:ubergraph knowledge_assertion manual_agent HGNC:10809 MONDO:0016143 NCBIGene:80746 biolink:gene_associated_with_condition MONDO:0012890 infores:clingen NCBIGene:80746 MONDO:0012890 Gene associated with autosomal recessive phenotype 30 NCBIGene:5573 biolink:gene_associated_with_condition MONDO:0008057 infores:ubergraph knowledge_assertion manual_agent HGNC:9388 MONDO:0008057 NCBIGene:7297 biolink:gene_associated_with_condition MONDO:0012682 infores:ubergraph knowledge_assertion manual_agent HGNC:12440 MONDO:0012682 NCBIGene:6340 biolink:gene_associated_with_condition MONDO:0020854 infores:ubergraph knowledge_assertion manual_agent HGNC:10602 MONDO:0020854 NCBIGene:125972 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:20407 MONDO:0005045 Disputed 2023-01-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd8036e5-bf01-4b89-b4fc-94080d835d99-2023-01-11T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6569 biolink:gene_associated_with_condition MONDO:0013247 infores:clingen HGNC:11019 MONDO:0013247 Disputed 2022-09-06T14:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8aec2b2-9433-4f9f-8015-5f3dd46369d0-2022-09-06T143000.000Z AR Autosomal Recessive 0000007 NCBIGene:7056 biolink:gene_associated_with_condition MONDO:0013044 infores:ubergraph knowledge_assertion manual_agent HGNC:11784 MONDO:0013044 NCBIGene:54916 biolink:gene_associated_with_condition MONDO:0044321 infores:ubergraph knowledge_assertion manual_agent HGNC:20185 MONDO:0044321 NCBIGene:2027 biolink:gene_associated_with_condition MONDO:0013046 infores:clingen NCBIGene:2027 MONDO:0013046 Gene associated with autosomal recessive phenotype 30 NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0009226 infores:ubergraph knowledge_assertion manual_agent HGNC:2186 MONDO:0009226 NCBIGene:65992 biolink:gene_associated_with_condition MONDO:0011252 infores:ubergraph knowledge_assertion manual_agent HGNC:16110 MONDO:0011252 NCBIGene:222546 biolink:gene_associated_with_condition MONDO:0017400 infores:ubergraph knowledge_assertion manual_agent HGNC:21478 MONDO:0017400 NCBIGene:2201 biolink:gene_associated_with_condition MONDO:0007363 infores:ubergraph knowledge_assertion manual_agent HGNC:3604 MONDO:0007363 NCBIGene:2624 biolink:gene_associated_with_condition MONDO:0013607 infores:ubergraph knowledge_assertion manual_agent HGNC:4171 MONDO:0013607 NCBIGene:51102 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:19691 MONDO:0009723 Moderate 2021-06-14T14:25:34.349Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75fcef99-f3fe-43b3-a544-a91f04ed1285-2021-06-14T142534.349Z AR Autosomal Recessive 0000007 NCBIGene:1487 biolink:gene_associated_with_condition MONDO:0060666 infores:ubergraph knowledge_assertion manual_agent HGNC:2494 MONDO:0060666 NCBIGene:22 biolink:gene_associated_with_condition MONDO:0010524 infores:ubergraph knowledge_assertion manual_agent HGNC:48 MONDO:0010524 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0600019 infores:ubergraph knowledge_assertion manual_agent HGNC:11603 MONDO:0600019 NCBIGene:412 biolink:gene_associated_with_condition MONDO:0010622 infores:ubergraph knowledge_assertion manual_agent HGNC:11425 MONDO:0010622 NCBIGene:3782 biolink:gene_associated_with_condition MONDO:0032854 infores:ubergraph knowledge_assertion manual_agent HGNC:6292 MONDO:0032854 NCBIGene:9289 biolink:gene_associated_with_condition MONDO:0011738 infores:clingen NCBIGene:9289 MONDO:0011738 Definitive 2023-10-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a967bf-7f3a-4305-8210-7787f257a836-2023-10-24T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7852 biolink:gene_associated_with_condition MONDO:8000006 infores:ubergraph knowledge_assertion manual_agent HGNC:2561 MONDO:8000006 NCBIGene:10522 biolink:gene_associated_with_condition MONDO:0014357 infores:ubergraph knowledge_assertion manual_agent HGNC:14677 MONDO:0014357 NCBIGene:65080 biolink:gene_associated_with_condition MONDO:0014162 infores:ubergraph knowledge_assertion manual_agent HGNC:16650 MONDO:0014162 NCBIGene:7414 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:12665 MONDO:0005021 Strong 2024-08-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d46699a-5f8c-460d-9233-bec4e2ecf560-2024-08-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:80746 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80746 MONDO:0700096 No evidence available 0 true NCBIGene:22909 biolink:gene_associated_with_condition MONDO:0013898 infores:ubergraph knowledge_assertion manual_agent HGNC:29170 MONDO:0013898 NCBIGene:55773 biolink:gene_associated_with_condition MONDO:0054669 infores:ubergraph knowledge_assertion manual_agent HGNC:25622 MONDO:0054669 NCBIGene:57082 biolink:gene_associated_with_condition MONDO:0011437 infores:ubergraph knowledge_assertion manual_agent HGNC:24054 MONDO:0011437 NCBIGene:60561 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:60561 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4007 biolink:gene_associated_with_condition MONDO:0010640 infores:ubergraph knowledge_assertion manual_agent HGNC:6645 MONDO:0010640 NCBIGene:8737 biolink:gene_associated_with_condition MONDO:0020849 infores:ubergraph knowledge_assertion manual_agent HGNC:10019 MONDO:0020849 NCBIGene:10459 biolink:gene_associated_with_condition MONDO:0014985 infores:ubergraph knowledge_assertion manual_agent HGNC:6764 MONDO:0014985 NCBIGene:94137 biolink:gene_associated_with_condition MONDO:0032940 infores:ubergraph knowledge_assertion manual_agent HGNC:15946 MONDO:0032940 NCBIGene:5116 biolink:gene_associated_with_condition MONDO:0008872 infores:clingen HGNC:16068 MONDO:0008872 Definitive 2024-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a99c487-44c9-40be-9282-0ba9c91f6f4a-2024-09-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55788 biolink:gene_associated_with_condition MONDO:0010183 infores:clingen HGNC:23038 MONDO:0010183 Definitive 2021-03-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14c077fe-c0ff-43d5-8436-041db18b20b1-2021-03-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9969 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:22474 MONDO:0100038 Definitive 2022-05-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e82f63b1-ed0f-4dd0-8168-3aa4e0a4c2a9-2022-05-17T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:25915 biolink:gene_associated_with_condition MONDO:0032623 infores:ubergraph knowledge_assertion manual_agent HGNC:29918 MONDO:0032623 NCBIGene:5216 biolink:gene_associated_with_condition MONDO:0013891 infores:clingen HGNC:8881 MONDO:0013891 Definitive 2021-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_948de40f-2cef-4235-ae87-491c01ffe803-2021-04-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:131377 biolink:gene_associated_with_condition MONDO:0014138 infores:clingen HGNC:30372 MONDO:0014138 Definitive 2019-11-05T13:46:03.480Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd1008a8-dd54-43d0-962c-82453975dc3a-2019-11-05T134603.480Z AR Autosomal Recessive 0000007 NCBIGene:60675 biolink:gene_associated_with_condition MONDO:0012528 infores:clingen HGNC:18455 MONDO:0012528 Definitive 2022-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2305ec95-325d-4ebe-9401-121705e49660-2022-03-22T160000.000Z SD Semidominant 0032113 NCBIGene:1763 biolink:gene_associated_with_condition MONDO:0014350 infores:ubergraph knowledge_assertion manual_agent HGNC:2939 MONDO:0014350 NCBIGene:51364 biolink:gene_associated_with_condition MONDO:0014192 infores:ubergraph knowledge_assertion manual_agent HGNC:19412 MONDO:0014192 NCBIGene:7249 biolink:gene_associated_with_condition MONDO:0001734 infores:clingen NCBIGene:7249 MONDO:0001734 Definitive 2019-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0a33ff-44ca-497c-8499-cc1f50cead93-2019-01-23T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5422 biolink:gene_associated_with_condition MONDO:0015601 infores:ubergraph knowledge_assertion manual_agent HGNC:9173 MONDO:0015601 NCBIGene:23534 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23534 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9442 biolink:gene_associated_with_condition MONDO:0859137 infores:ubergraph knowledge_assertion manual_agent HGNC:2377 MONDO:0859137 NCBIGene:3295 biolink:gene_associated_with_condition MONDO:0009300 infores:ubergraph knowledge_assertion manual_agent HGNC:5213 MONDO:0009300 NCBIGene:617 biolink:gene_associated_with_condition MONDO:0011308 infores:ubergraph knowledge_assertion manual_agent HGNC:1020 MONDO:0011308 NCBIGene:27229 biolink:gene_associated_with_condition MONDO:0014592 infores:ubergraph knowledge_assertion manual_agent HGNC:16691 MONDO:0014592 NCBIGene:50801 biolink:gene_associated_with_condition MONDO:0032714 infores:clingen HGNC:6279 MONDO:0032714 Moderate 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c65a8f69-11ae-4a17-8e66-b4461a8c877b-2024-09-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1727 biolink:gene_associated_with_condition MONDO:0009606 infores:clingen HGNC:2873 MONDO:0009606 Definitive 2024-12-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa135949-7d13-41e7-bbee-5cefb3b77774-2024-12-13T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:10755 biolink:gene_associated_with_condition MONDO:0030134 infores:ubergraph knowledge_assertion manual_agent HGNC:1226 MONDO:0030134 NCBIGene:6866 biolink:gene_associated_with_condition MONDO:0013912 infores:ubergraph knowledge_assertion manual_agent HGNC:11521 MONDO:0013912 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0800183 infores:ubergraph knowledge_assertion manual_agent HGNC:8620 MONDO:0800183 NCBIGene:374407 biolink:gene_associated_with_condition MONDO:0014909 infores:ubergraph knowledge_assertion manual_agent HGNC:30718 MONDO:0014909 NCBIGene:6340 biolink:gene_associated_with_condition MONDO:0859318 infores:ubergraph knowledge_assertion manual_agent HGNC:10602 MONDO:0859318 NCBIGene:11132 biolink:gene_associated_with_condition MONDO:0011027 infores:ubergraph knowledge_assertion manual_agent HGNC:1477 MONDO:0011027 NCBIGene:5295 biolink:gene_associated_with_condition MONDO:0014083 infores:ubergraph knowledge_assertion manual_agent HGNC:8979 MONDO:0014083 NCBIGene:7439 biolink:gene_associated_with_condition MONDO:0700239 infores:ubergraph knowledge_assertion manual_agent HGNC:12703 MONDO:0700239 NCBIGene:90678 biolink:gene_associated_with_condition MONDO:0013753 infores:clingen HGNC:25135 MONDO:0013753 Definitive 2023-11-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82dac4c0-801f-4704-b59d-0a9441423d5a-2023-11-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:55329 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:29636 MONDO:0016575 Disputed 2022-09-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_255ba802-ece2-43c7-9089-6e54672b4f4a-2022-09-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84140 biolink:gene_associated_with_condition MONDO:0011630 infores:clingen NCBIGene:84140 MONDO:0011630 Gene associated with autosomal recessive phenotype 30 NCBIGene:8557 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:11610 MONDO:0005021 Limited 2025-04-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c8ab9d8-919a-443f-b027-5aec92b273d1-2025-04-18T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:59 MONDO:0015924 Moderate 2025-03-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14b1739d-8890-4927-8efb-e909f48bad5a-2025-03-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3590 biolink:gene_associated_with_condition MONDO:0013615 infores:ubergraph knowledge_assertion manual_agent HGNC:5967 MONDO:0013615 NCBIGene:10913 biolink:gene_associated_with_condition MONDO:0009147 infores:ubergraph knowledge_assertion manual_agent HGNC:2895 MONDO:0009147 NCBIGene:124512 biolink:gene_associated_with_condition MONDO:0014409 infores:clingen NCBIGene:124512 MONDO:0014409 Gene associated with autosomal recessive phenotype 30 NCBIGene:144535 biolink:gene_associated_with_condition MONDO:0700290 infores:ubergraph knowledge_assertion manual_agent HGNC:26456 MONDO:0700290 NCBIGene:22827 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:22827 MONDO:0000508 Definitive 2021-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_661c140f-11a3-46f8-b001-14a2314582e4-2021-12-15T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5063 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen NCBIGene:5063 MONDO:0020119 Definitive 2018-07-30T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2f13863-a52d-49bd-b7f6-294edd73717a-2018-07-30T220000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79633 biolink:gene_associated_with_condition MONDO:0100603 infores:ubergraph knowledge_assertion manual_agent HGNC:23109 MONDO:0100603 NCBIGene:55033 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55033 MONDO:0700096 No evidence available 0 true NCBIGene:7480 biolink:gene_associated_with_condition MONDO:0009157 infores:ubergraph knowledge_assertion manual_agent HGNC:12775 MONDO:0009157 NCBIGene:4747 biolink:gene_associated_with_condition MONDO:0011894 infores:ubergraph knowledge_assertion manual_agent HGNC:7739 MONDO:0011894 NCBIGene:57551 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:57551 MONDO:0000508 Definitive 2021-08-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79c712d0-ac0e-4bf0-8e68-bd598b3bca42-2021-08-04T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29960 biolink:gene_associated_with_condition MONDO:0032815 infores:ubergraph knowledge_assertion manual_agent HGNC:16352 MONDO:0032815 NCBIGene:55180 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:30922 MONDO:0100038 Definitive 2023-02-07T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18885d8b-bd77-4386-a046-e39b7a9c4685-2023-02-07T063000.000Z AR Autosomal Recessive 0000007 NCBIGene:22800 biolink:gene_associated_with_condition MONDO:0032839 infores:ubergraph knowledge_assertion manual_agent HGNC:17271 MONDO:0032839 NCBIGene:8867 biolink:gene_associated_with_condition MONDO:0033362 infores:ubergraph knowledge_assertion manual_agent HGNC:11503 MONDO:0033362 NCBIGene:6571 biolink:gene_associated_with_condition MONDO:0018130 infores:clingen HGNC:10935 MONDO:0018130 Definitive 2024-10-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_502e9100-4bae-498c-9fcc-4ce745a5d2ae-2024-10-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:675 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:675 MONDO:0700096 No evidence available 0 true NCBIGene:5192 biolink:gene_associated_with_condition MONDO:0100264 infores:ubergraph knowledge_assertion manual_agent HGNC:8851 MONDO:0100264 NCBIGene:3476 biolink:gene_associated_with_condition MONDO:0010333 infores:ubergraph knowledge_assertion manual_agent HGNC:5461 MONDO:0010333 NCBIGene:3074 biolink:gene_associated_with_condition MONDO:0010006 infores:clingen NCBIGene:3074 MONDO:0010006 Definitive 2022-09-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f53d03d-f936-4628-ab75-351ae4da012a-2022-09-15T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:11081 biolink:gene_associated_with_condition MONDO:0009014 infores:clingen NCBIGene:11081 MONDO:0009014 Gene associated with autosomal recessive phenotype 30 NCBIGene:701 biolink:gene_associated_with_condition MONDO:0009759 infores:ubergraph knowledge_assertion manual_agent HGNC:1149 MONDO:0009759 NCBIGene:79152 biolink:gene_associated_with_condition MONDO:0012866 infores:ubergraph knowledge_assertion manual_agent HGNC:21197 MONDO:0012866 NCBIGene:2906 biolink:gene_associated_with_condition MONDO:0014947 infores:ubergraph knowledge_assertion manual_agent HGNC:4588 MONDO:0014947 NCBIGene:643226 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:33862 MONDO:0019497 Moderate 2021-03-26T15:57:48.643Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207f12b7-3148-4a8f-88f8-f78ac5bb294c-2021-03-26T155748.643Z AR Autosomal Recessive 0000007 NCBIGene:3617 biolink:gene_associated_with_condition MONDO:1040036 infores:ubergraph knowledge_assertion manual_agent HGNC:6055 MONDO:1040036 NCBIGene:353116 biolink:gene_associated_with_condition MONDO:0030712 infores:ubergraph knowledge_assertion manual_agent HGNC:26814 MONDO:0030712 NCBIGene:6942 biolink:gene_associated_with_condition MONDO:0032745 infores:clingen HGNC:11631 MONDO:0032745 Definitive 2020-10-07T17:20:01.182Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_619ae2be-5ab6-418d-8824-373369337faa-2020-10-07T172001.182Z AD Autosomal Dominant 0000006 NCBIGene:284217 biolink:gene_associated_with_condition MONDO:0014419 infores:ubergraph knowledge_assertion manual_agent HGNC:6481 MONDO:0014419 NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0800477 infores:ubergraph knowledge_assertion manual_agent HGNC:18420 MONDO:0800477 NCBIGene:79776 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79776 MONDO:0700096 No evidence available 0 true NCBIGene:1594 biolink:gene_associated_with_condition MONDO:1060107 infores:ubergraph knowledge_assertion manual_agent HGNC:2606 MONDO:1060107 NCBIGene:55812 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:20423 MONDO:0019118 Definitive 2024-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c0c6cda-eb17-47a6-8e9d-bbafd4330295-2024-08-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0100561 infores:clingen HGNC:4823 MONDO:0100561 Definitive 2024-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f1f710c-a6b7-4a19-838c-30fc51a2c564-2024-09-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1438 biolink:gene_associated_with_condition MONDO:0010424 infores:ubergraph knowledge_assertion manual_agent HGNC:2435 MONDO:0010424 NCBIGene:1407 biolink:gene_associated_with_condition MONDO:0800001 infores:ubergraph knowledge_assertion manual_agent HGNC:2384 MONDO:0800001 NCBIGene:5699 biolink:gene_associated_with_condition MONDO:0030924 infores:ubergraph knowledge_assertion manual_agent HGNC:9538 MONDO:0030924 NCBIGene:6305 biolink:gene_associated_with_condition MONDO:0014117 infores:clingen HGNC:10542 MONDO:0014117 Moderate 2024-12-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f814d9-02db-4c0c-8e1c-20a7759d993f-2024-12-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1896 biolink:gene_associated_with_condition MONDO:0010585 infores:ubergraph knowledge_assertion manual_agent HGNC:3157 MONDO:0010585 NCBIGene:5479 biolink:gene_associated_with_condition MONDO:0009805 infores:clingen NCBIGene:5479 MONDO:0009805 Gene associated with autosomal recessive phenotype 30 NCBIGene:23005 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23005 MONDO:0700096 No evidence available 0 true NCBIGene:396 biolink:gene_associated_with_condition MONDO:0014099 infores:clingen HGNC:678 MONDO:0014099 Moderate 2022-05-24T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e529f2b-21ac-44b2-981e-048e92e377a1-2022-05-24T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:7276 biolink:gene_associated_with_condition MONDO:0020730 infores:ubergraph knowledge_assertion manual_agent HGNC:12405 MONDO:0020730 NCBIGene:83987 biolink:gene_associated_with_condition MONDO:0013627 infores:ubergraph knowledge_assertion manual_agent HGNC:25367 MONDO:0013627 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1280 MONDO:0700096 No evidence available 0 true NCBIGene:64207 biolink:gene_associated_with_condition MONDO:0060759 infores:ubergraph knowledge_assertion manual_agent HGNC:14282 MONDO:0060759 NCBIGene:3861 biolink:gene_associated_with_condition MONDO:0007550 infores:ubergraph knowledge_assertion manual_agent HGNC:6416 MONDO:0007550 NCBIGene:657 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:1076 MONDO:0015924 Disputed 2022-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e810879d-f635-4851-b20e-86998b000fcc-2022-10-18T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:65250 biolink:gene_associated_with_condition MONDO:0013824 infores:clingen NCBIGene:65250 MONDO:0013824 Definitive 2022-05-20T11:42:41.088Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_954cdc22-7834-4876-a64e-27d56615c1ff-2022-05-20T114241.088Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23370 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:17090 MONDO:0019118 Moderate 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96382044-7790-49d1-848c-01d699df9550-2024-11-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4633 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:7583 MONDO:0005045 Definitive 2021-07-13T15:49:13.625Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b25ff6c-3ede-46a3-a637-3eab7aa18569-2021-07-13T154913.625Z AD Autosomal Dominant 0000006 NCBIGene:57609 biolink:gene_associated_with_condition MONDO:0007634 infores:ubergraph knowledge_assertion manual_agent HGNC:29284 MONDO:0007634 NCBIGene:3586 biolink:gene_associated_with_condition MONDO:0100048 infores:ubergraph knowledge_assertion manual_agent HGNC:5962 MONDO:0100048 NCBIGene:6567 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6567 MONDO:0700096 No evidence available 0 true NCBIGene:23438 biolink:gene_associated_with_condition MONDO:0013972 infores:clingen HGNC:4817 MONDO:0013972 Limited 2018-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c5ed5f6-4068-4e15-a195-6098e4ee2093-2018-05-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4036 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6694 MONDO:0005453 No Known Disease Relationship 2024-09-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_291857b3-399a-42fa-86f7-d4077f97accd-2024-09-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3737 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen NCBIGene:3737 MONDO:0100062 Definitive 2022-05-18T13:01:46.911Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a825f85-585a-4086-8118-ce912d4c1469-2022-05-18T130146.911Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:26047 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:13830 MONDO:0100038 Definitive 2021-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3af732e2-062d-4bb3-a3cd-2045e460dc8f-2021-06-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57697 biolink:gene_associated_with_condition MONDO:0054732 infores:ubergraph knowledge_assertion manual_agent HGNC:23168 MONDO:0054732 NCBIGene:5660 biolink:gene_associated_with_condition MONDO:0100517 infores:ubergraph knowledge_assertion manual_agent HGNC:9498 MONDO:0100517 NCBIGene:3481 biolink:gene_associated_with_condition MONDO:0014663 infores:ubergraph knowledge_assertion manual_agent HGNC:5466 MONDO:0014663 NCBIGene:9326 biolink:gene_associated_with_condition MONDO:0009841 infores:ubergraph knowledge_assertion manual_agent HGNC:12309 MONDO:0009841 NCBIGene:2259 biolink:gene_associated_with_condition MONDO:0008654 infores:ubergraph knowledge_assertion manual_agent HGNC:3671 MONDO:0008654 NCBIGene:64208 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:17649 MONDO:0015152 Definitive 2025-02-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb7755df-a1e3-4398-a771-cd6c2d112b68-2025-02-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6509 biolink:gene_associated_with_condition MONDO:0014725 infores:ubergraph knowledge_assertion manual_agent HGNC:10942 MONDO:0014725 NCBIGene:4976 biolink:gene_associated_with_condition MONDO:0007429 infores:ubergraph knowledge_assertion manual_agent HGNC:8140 MONDO:0007429 NCBIGene:3300 biolink:gene_associated_with_condition MONDO:0013947 infores:ubergraph knowledge_assertion manual_agent HGNC:5228 MONDO:0013947 NCBIGene:1491 biolink:gene_associated_with_condition MONDO:0009058 infores:clingen NCBIGene:1491 MONDO:0009058 Definitive 2019-06-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f5047f7-80ba-4b8f-8009-59d7130e63be-2019-06-14T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:124454 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:124454 MONDO:0700096 No evidence available 0 true NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1301 MONDO:0700096 No evidence available 0 true NCBIGene:64241 biolink:gene_associated_with_condition MONDO:0020747 infores:ubergraph knowledge_assertion manual_agent HGNC:13887 MONDO:0020747 NCBIGene:3480 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3480 MONDO:0700096 No evidence available 0 true NCBIGene:1297 biolink:gene_associated_with_condition MONDO:0013590 infores:ubergraph knowledge_assertion manual_agent HGNC:2217 MONDO:0013590 NCBIGene:3008 biolink:gene_associated_with_condition MONDO:0044323 infores:clingen NCBIGene:3008 MONDO:0044323 true No evidence available 0 NCBIGene:142680 biolink:gene_associated_with_condition MONDO:0009431 infores:ubergraph knowledge_assertion manual_agent HGNC:20305 MONDO:0009431 NCBIGene:9563 biolink:gene_associated_with_condition MONDO:0011503 infores:clingen NCBIGene:9563 MONDO:0011503 Gene associated with autosomal recessive phenotype 30 NCBIGene:4677 biolink:gene_associated_with_condition MONDO:0100348 infores:ubergraph knowledge_assertion manual_agent HGNC:7643 MONDO:0100348 NCBIGene:5592 biolink:gene_associated_with_condition MONDO:0014187 infores:ubergraph knowledge_assertion manual_agent HGNC:9414 MONDO:0014187 NCBIGene:11149 biolink:gene_associated_with_condition MONDO:0014782 infores:ubergraph knowledge_assertion manual_agent HGNC:1152 MONDO:0014782 NCBIGene:1499 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1499 MONDO:0700096 No evidence available 0 true NCBIGene:55997 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55997 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:285489 biolink:gene_associated_with_condition MONDO:0009690 infores:ubergraph knowledge_assertion manual_agent HGNC:26594 MONDO:0009690 NCBIGene:351 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:351 MONDO:0700096 true No evidence available 0 NCBIGene:5310 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5310 MONDO:0700096 No evidence available 0 true NCBIGene:83932 biolink:gene_associated_with_condition MONDO:0014527 infores:ubergraph knowledge_assertion manual_agent HGNC:25356 MONDO:0014527 NCBIGene:1103 biolink:gene_associated_with_condition MONDO:0009689 infores:ubergraph knowledge_assertion manual_agent HGNC:1912 MONDO:0009689 NCBIGene:9516 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9516 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:54880 biolink:gene_associated_with_condition MONDO:0010261 infores:ubergraph knowledge_assertion manual_agent HGNC:20893 MONDO:0010261 NCBIGene:3845 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:6407 MONDO:0018997 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6476a5fd-8f66-462b-b17a-43540dad3c1f-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2990 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2990 MONDO:0700096 No evidence available 0 true NCBIGene:3183 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3183 MONDO:0700096 No evidence available 0 true NCBIGene:116150 biolink:gene_associated_with_condition MONDO:0030921 infores:ubergraph knowledge_assertion manual_agent HGNC:21042 MONDO:0030921 NCBIGene:2658 biolink:gene_associated_with_condition MONDO:0014217 infores:ubergraph knowledge_assertion manual_agent HGNC:4217 MONDO:0014217 NCBIGene:24140 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen NCBIGene:24140 MONDO:0019181 Some evidence for dosage pathogenicity 2 NCBIGene:2591 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2591 MONDO:0700096 No evidence available 0 true NCBIGene:79147 biolink:gene_associated_with_condition MONDO:0700066 infores:clingen HGNC:17997 MONDO:0700066 Definitive 2024-08-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cb46400-ca4b-48cd-aaf7-dd493f0d2971-2024-08-13T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:22868 biolink:gene_associated_with_condition MONDO:0030020 infores:ubergraph knowledge_assertion manual_agent HGNC:29160 MONDO:0030020 NCBIGene:2255 biolink:gene_associated_with_condition MONDO:0100090 infores:ubergraph knowledge_assertion manual_agent HGNC:3666 MONDO:0100090 NCBIGene:8604 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10982 MONDO:0044970 Moderate 2023-08-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47bba424-b4e3-4216-aae0-2a4602bc2e92-2023-08-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23169 biolink:gene_associated_with_condition MONDO:0010013 infores:ubergraph knowledge_assertion manual_agent HGNC:20800 MONDO:0010013 NCBIGene:1200 biolink:gene_associated_with_condition MONDO:0008769 infores:ubergraph knowledge_assertion manual_agent HGNC:2073 MONDO:0008769 NCBIGene:9119 biolink:gene_associated_with_condition MONDO:0012865 infores:ubergraph knowledge_assertion manual_agent HGNC:24431 MONDO:0012865 NCBIGene:2009 biolink:gene_associated_with_condition MONDO:0010873 infores:ubergraph knowledge_assertion manual_agent HGNC:3330 MONDO:0010873 NCBIGene:5160 biolink:gene_associated_with_condition MONDO:0019169 infores:clingen NCBIGene:5160 MONDO:0019169 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4353 biolink:gene_associated_with_condition MONDO:0009694 infores:ubergraph knowledge_assertion manual_agent HGNC:7218 MONDO:0009694 NCBIGene:51506 biolink:gene_associated_with_condition MONDO:0060752 infores:ubergraph knowledge_assertion manual_agent HGNC:26941 MONDO:0060752 NCBIGene:10664 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:10664 MONDO:0000508 Definitive 2021-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1cbcd7b-83e2-47c1-b708-c9052502e639-2021-07-21T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1629 biolink:gene_associated_with_condition MONDO:0023693 infores:ubergraph knowledge_assertion manual_agent HGNC:2698 MONDO:0023693 NCBIGene:6909 biolink:gene_associated_with_condition MONDO:0032607 infores:ubergraph knowledge_assertion manual_agent HGNC:11597 MONDO:0032607 NCBIGene:147872 biolink:gene_associated_with_condition MONDO:0957822 infores:ubergraph knowledge_assertion manual_agent HGNC:26520 MONDO:0957822 NCBIGene:477 biolink:gene_associated_with_condition MONDO:0100539 infores:clingen HGNC:800 MONDO:0100539 Definitive 2024-01-16T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe788a45-b8da-4377-acdb-5dd55fcc3130-2024-01-16T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:790 biolink:gene_associated_with_condition MONDO:0014647 infores:clingen HGNC:1424 MONDO:0014647 Definitive 2024-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4a828c0-e00b-4756-aec7-b83e529ec8e4-2024-04-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55779 biolink:gene_associated_with_condition MONDO:0054724 infores:ubergraph knowledge_assertion manual_agent HGNC:25631 MONDO:0054724 NCBIGene:27429 biolink:gene_associated_with_condition MONDO:0044723 infores:ubergraph knowledge_assertion manual_agent HGNC:14348 MONDO:0044723 NCBIGene:9652 biolink:gene_associated_with_condition MONDO:0024541 infores:ubergraph knowledge_assertion manual_agent HGNC:23639 MONDO:0024541 NCBIGene:1892 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:3151 MONDO:0009723 Definitive 2021-04-09T14:26:01.823Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d443f3c-fe02-4104-9e92-ca1c73b85a81-2021-04-09T142601.823Z AR Autosomal Recessive 0000007 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0014125 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0014125 NCBIGene:84189 biolink:gene_associated_with_condition MONDO:0009082 infores:clingen HGNC:23503 MONDO:0009082 Definitive 2020-04-21T21:15:22.429Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9b9e41c-1b12-4159-9729-8de648e747b0-2020-04-21T211522.429Z AR Autosomal Recessive 0000007 NCBIGene:92002 biolink:gene_associated_with_condition MONDO:0010408 infores:ubergraph knowledge_assertion manual_agent HGNC:28434 MONDO:0010408 NCBIGene:24140 biolink:gene_associated_with_condition MONDO:0010660 infores:ubergraph knowledge_assertion manual_agent HGNC:13254 MONDO:0010660 NCBIGene:51364 biolink:gene_associated_with_condition MONDO:0014192 infores:clingen HGNC:19412 MONDO:0014192 Definitive 2023-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9549c727-fece-494c-9892-83c0ac05f3b4-2023-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:11128 biolink:gene_associated_with_condition MONDO:0700276 infores:ubergraph knowledge_assertion manual_agent HGNC:30074 MONDO:0700276 NCBIGene:6605 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:11109 MONDO:0015452 Definitive 2024-09-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_877f5e0f-5b30-4a4f-87c3-cb6b87caa1e4-2024-09-18T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:55640 biolink:gene_associated_with_condition MONDO:0009168 infores:clingen NCBIGene:55640 MONDO:0009168 Gene associated with autosomal recessive phenotype 30 NCBIGene:5649 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5649 MONDO:0700096 No evidence available 0 true NCBIGene:51308 biolink:gene_associated_with_condition MONDO:0014282 infores:ubergraph knowledge_assertion manual_agent HGNC:17975 MONDO:0014282 NCBIGene:351 biolink:gene_associated_with_condition MONDO:0011583 infores:clingen HGNC:620 MONDO:0011583 Definitive 2025-10-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_546f4b6c-6728-44ce-aee5-c2edca4922c2-2025-10-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10046 biolink:gene_associated_with_condition MONDO:0010423 infores:ubergraph knowledge_assertion manual_agent HGNC:2568 MONDO:0010423 NCBIGene:1591 biolink:gene_associated_with_condition MONDO:0020739 infores:clingen NCBIGene:1591 MONDO:0020739 Gene associated with autosomal recessive phenotype 30 NCBIGene:125988 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:33702 MONDO:0044970 Definitive 2023-08-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b19a224-a6a5-4056-b69d-2d3090b8a9e6-2023-08-07T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3766 biolink:gene_associated_with_condition MONDO:0013005 infores:clingen HGNC:6256 MONDO:0013005 Definitive 2023-06-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29ea43d4-6c86-4110-a34e-291fe56ec2c4-2023-06-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51091 biolink:gene_associated_with_condition MONDO:0013438 infores:ubergraph knowledge_assertion manual_agent HGNC:30605 MONDO:0013438 NCBIGene:10137 biolink:gene_associated_with_condition MONDO:0033312 infores:ubergraph knowledge_assertion manual_agent HGNC:9898 MONDO:0033312 NCBIGene:4049 biolink:gene_associated_with_condition MONDO:0012595 infores:ubergraph knowledge_assertion manual_agent HGNC:6709 MONDO:0012595 NCBIGene:23443 biolink:gene_associated_with_condition MONDO:0014248 infores:ubergraph knowledge_assertion manual_agent HGNC:11023 MONDO:0014248 NCBIGene:26873 biolink:gene_associated_with_condition MONDO:0009825 infores:ubergraph knowledge_assertion manual_agent HGNC:8149 MONDO:0009825 NCBIGene:23418 biolink:gene_associated_with_condition MONDO:0010818 infores:ubergraph knowledge_assertion manual_agent HGNC:2343 MONDO:0010818 NCBIGene:56916 biolink:gene_associated_with_condition MONDO:0008416 infores:ubergraph knowledge_assertion manual_agent HGNC:18398 MONDO:0008416 NCBIGene:4093 biolink:gene_associated_with_condition MONDO:0014134 infores:ubergraph knowledge_assertion manual_agent HGNC:6774 MONDO:0014134 NCBIGene:2318 biolink:gene_associated_with_condition MONDO:0018943 infores:clingen HGNC:3756 MONDO:0018943 Definitive 2023-10-26T01:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d61672a0-06f2-4df4-845b-57566075fdb1-2023-10-26T010000.000Z AD Autosomal Dominant 0000006 NCBIGene:8626 biolink:gene_associated_with_condition MONDO:0016044 infores:clingen NCBIGene:8626 MONDO:0016044 true Little evidence for dosage pathogenicity 1 NCBIGene:100127206 biolink:gene_associated_with_condition MONDO:0859374 infores:ubergraph knowledge_assertion manual_agent HGNC:33914 MONDO:0859374 NCBIGene:57697 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:23168 MONDO:0016419 Limited 2024-11-22T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25744c57-8e53-403b-a2ec-fb405ad452cc-2024-11-22T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:3480 biolink:gene_associated_with_condition MONDO:0010038 infores:clingen NCBIGene:3480 MONDO:0010038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55526 biolink:gene_associated_with_condition MONDO:0008774 infores:clingen HGNC:23537 MONDO:0008774 Definitive 2020-11-03T19:38:15.515Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6dd5de3-9819-432d-996c-12a66dff277f-2020-11-03T193815.515Z AR Autosomal Recessive 0000007 NCBIGene:1789 biolink:gene_associated_with_condition MONDO:0009454 infores:ubergraph knowledge_assertion manual_agent HGNC:2979 MONDO:0009454 NCBIGene:8622 biolink:gene_associated_with_condition MONDO:0012205 infores:ubergraph knowledge_assertion manual_agent HGNC:8794 MONDO:0012205 NCBIGene:540 biolink:gene_associated_with_condition MONDO:0010200 infores:clingen HGNC:870 MONDO:0010200 Definitive 2019-03-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0ac0a41-d7d5-4377-a622-1ee9bc4ed9f3-2019-03-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:29110 biolink:gene_associated_with_condition MONDO:0014641 infores:ubergraph knowledge_assertion manual_agent HGNC:11584 MONDO:0014641 NCBIGene:64374 biolink:gene_associated_with_condition MONDO:0009567 infores:ubergraph knowledge_assertion manual_agent HGNC:24624 MONDO:0009567 NCBIGene:8701 biolink:gene_associated_with_condition MONDO:0012748 infores:clingen NCBIGene:8701 MONDO:0012748 Definitive 2021-10-25T19:04:27.941Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84088c46-0763-4ed6-9352-530d846e8b24-2021-10-25T190427.941Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3551 biolink:gene_associated_with_condition MONDO:0014267 infores:ubergraph knowledge_assertion manual_agent HGNC:5960 MONDO:0014267 NCBIGene:7102 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen NCBIGene:7102 MONDO:0100284 true Little evidence for dosage pathogenicity 1 NCBIGene:92255 biolink:gene_associated_with_condition MONDO:0859218 infores:ubergraph knowledge_assertion manual_agent HGNC:25287 MONDO:0859218 NCBIGene:1080 biolink:gene_associated_with_condition MONDO:0009061 infores:ubergraph knowledge_assertion manual_agent HGNC:1884 MONDO:0009061 NCBIGene:845 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:1513 MONDO:0005045 Disputed 2022-05-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07177c89-7845-4df5-ba3e-bdd415b5c8b3-2022-05-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51112 biolink:gene_associated_with_condition MONDO:0044696 infores:ubergraph knowledge_assertion manual_agent HGNC:24284 MONDO:0044696 NCBIGene:213 biolink:gene_associated_with_condition MONDO:0014448 infores:ubergraph knowledge_assertion manual_agent HGNC:399 MONDO:0014448 NCBIGene:54919 biolink:gene_associated_with_condition MONDO:0013940 infores:clingen HGNC:26013 MONDO:0013940 Definitive 2024-06-19T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b47c717-e0a5-43ce-865b-0b14289216d7-2024-06-19T110000.000Z AR Autosomal Recessive 0000007 NCBIGene:25861 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25861 MONDO:0700096 No evidence available 0 true NCBIGene:8192 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8192 MONDO:0700096 No evidence available 0 true NCBIGene:5518 biolink:gene_associated_with_condition MONDO:0100166 infores:ubergraph knowledge_assertion manual_agent HGNC:9302 MONDO:0100166 NCBIGene:93 biolink:gene_associated_with_condition MONDO:0013403 infores:ubergraph knowledge_assertion manual_agent HGNC:174 MONDO:0013403 NCBIGene:150094 biolink:gene_associated_with_condition MONDO:0014595 infores:ubergraph knowledge_assertion manual_agent HGNC:11142 MONDO:0014595 NCBIGene:1917 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1917 MONDO:0700096 No evidence available 0 true NCBIGene:4810 biolink:gene_associated_with_condition MONDO:0010545 infores:clingen NCBIGene:4810 MONDO:0010545 Definitive 2017-10-20T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7f57ca3-efb2-4333-9ae1-732aa429f37a-2017-10-20T100000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7102 biolink:gene_associated_with_condition MONDO:0010266 infores:ubergraph knowledge_assertion manual_agent HGNC:11854 MONDO:0010266 NCBIGene:5075 biolink:gene_associated_with_condition MONDO:0014254 infores:ubergraph knowledge_assertion manual_agent HGNC:8615 MONDO:0014254 NCBIGene:4716 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7696 MONDO:0044970 Moderate 2022-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bff63e5-63a2-44fe-9a3e-561442d9c931-2022-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:344018 biolink:gene_associated_with_condition MONDO:0012861 infores:ubergraph knowledge_assertion manual_agent HGNC:24669 MONDO:0012861 NCBIGene:5741 biolink:gene_associated_with_condition MONDO:0007796 infores:ubergraph knowledge_assertion manual_agent HGNC:9606 MONDO:0007796 NCBIGene:1009 biolink:gene_associated_with_condition MONDO:0008885 infores:ubergraph knowledge_assertion manual_agent HGNC:1750 MONDO:0008885 NCBIGene:387700 biolink:gene_associated_with_condition MONDO:0012786 infores:ubergraph knowledge_assertion manual_agent HGNC:23094 MONDO:0012786 NCBIGene:26092 biolink:gene_associated_with_condition MONDO:0100604 infores:ubergraph knowledge_assertion manual_agent HGNC:29456 MONDO:0100604 NCBIGene:22954 biolink:gene_associated_with_condition MONDO:0016153 infores:ubergraph knowledge_assertion manual_agent HGNC:16380 MONDO:0016153 NCBIGene:8468 biolink:gene_associated_with_condition MONDO:0031083 infores:ubergraph knowledge_assertion manual_agent HGNC:3722 MONDO:0031083 NCBIGene:84148 biolink:gene_associated_with_condition MONDO:0033547 infores:ubergraph knowledge_assertion manual_agent HGNC:17933 MONDO:0033547 NCBIGene:6566 biolink:gene_associated_with_condition MONDO:0014490 infores:ubergraph knowledge_assertion manual_agent HGNC:10922 MONDO:0014490 NCBIGene:344561 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:344561 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:414 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:414 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:84464 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:23845 MONDO:0016248 No Known Disease Relationship 2017-03-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8705 AD Autosomal Dominant 0000006 NCBIGene:5728 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5728 MONDO:0700096 No evidence available 0 true NCBIGene:55275 biolink:gene_associated_with_condition MONDO:0014370 infores:ubergraph knowledge_assertion manual_agent HGNC:25608 MONDO:0014370 NCBIGene:6718 biolink:gene_associated_with_condition MONDO:0009339 infores:ubergraph knowledge_assertion manual_agent HGNC:388 MONDO:0009339 NCBIGene:203068 biolink:gene_associated_with_condition MONDO:0020738 infores:ubergraph knowledge_assertion manual_agent HGNC:20778 MONDO:0020738 NCBIGene:6121 biolink:gene_associated_with_condition MONDO:0100452 infores:ubergraph knowledge_assertion manual_agent HGNC:10294 MONDO:0100452 NCBIGene:148738 biolink:gene_associated_with_condition MONDO:0011216 infores:ubergraph knowledge_assertion manual_agent HGNC:4887 MONDO:0011216 NCBIGene:326625 biolink:gene_associated_with_condition MONDO:0009614 infores:ubergraph knowledge_assertion manual_agent HGNC:19331 MONDO:0009614 NCBIGene:79977 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2799 MONDO:0019497 Definitive 2020-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2ca9952-b611-4e6f-bbf8-aa5175248d01-2020-05-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1825 biolink:gene_associated_with_condition MONDO:0013136 infores:ubergraph knowledge_assertion manual_agent HGNC:3037 MONDO:0013136 NCBIGene:7201 biolink:gene_associated_with_condition MONDO:0032819 infores:ubergraph knowledge_assertion manual_agent HGNC:12299 MONDO:0032819 NCBIGene:2770 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2770 MONDO:0700096 No evidence available 0 true NCBIGene:8239 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen NCBIGene:8239 MONDO:0020119 Definitive 2021-11-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd411e83-8373-44b7-8ad5-00894c873880-2021-11-17T180000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0012833 infores:clingen HGNC:3690 MONDO:0012833 Definitive 2021-11-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98727c21-26dd-4e65-b75e-8ec82d95ba97-2021-11-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7701 biolink:gene_associated_with_condition MONDO:0032741 infores:ubergraph knowledge_assertion manual_agent HGNC:12927 MONDO:0032741 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0013369 infores:ubergraph knowledge_assertion manual_agent HGNC:11947 MONDO:0013369 NCBIGene:1308 biolink:gene_associated_with_condition MONDO:0030750 infores:ubergraph knowledge_assertion manual_agent HGNC:2194 MONDO:0030750 NCBIGene:7871 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:16643 MONDO:0015263 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10163 AD Autosomal Dominant 0000006 NCBIGene:54870 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:24713 MONDO:0800439 Definitive 2022-06-15T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ccc6c6f-da19-4e86-88a8-5e7a1794efae-2022-06-15T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:8626 biolink:gene_associated_with_condition MONDO:1040001 infores:ubergraph knowledge_assertion manual_agent HGNC:15979 MONDO:1040001 NCBIGene:5649 biolink:gene_associated_with_condition MONDO:0014639 infores:ubergraph knowledge_assertion manual_agent HGNC:9957 MONDO:0014639 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0033361 infores:ubergraph knowledge_assertion manual_agent HGNC:10586 MONDO:0033361 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0957815 infores:ubergraph knowledge_assertion manual_agent HGNC:11273 MONDO:0957815 NCBIGene:92609 biolink:gene_associated_with_condition MONDO:0044724 infores:ubergraph knowledge_assertion manual_agent HGNC:23656 MONDO:0044724 NCBIGene:375387 biolink:gene_associated_with_condition MONDO:0030033 infores:ubergraph knowledge_assertion manual_agent HGNC:24613 MONDO:0030033 NCBIGene:10383 biolink:gene_associated_with_condition MONDO:1060115 infores:ubergraph knowledge_assertion manual_agent HGNC:20771 MONDO:1060115 NCBIGene:3575 biolink:gene_associated_with_condition MONDO:0012163 infores:clingen HGNC:6024 MONDO:0012163 Definitive 2021-06-22T16:48:43.040Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bab0c36-592e-439c-bedf-4ec095fd47e8-2021-06-22T164843.040Z AR Autosomal Recessive 0000007 NCBIGene:56915 biolink:gene_associated_with_condition MONDO:0859200 infores:ubergraph knowledge_assertion manual_agent HGNC:24662 MONDO:0859200 NCBIGene:8313 biolink:gene_associated_with_condition MONDO:0012075 infores:ubergraph knowledge_assertion manual_agent HGNC:904 MONDO:0012075 NCBIGene:2746 biolink:gene_associated_with_condition MONDO:0011717 infores:ubergraph knowledge_assertion manual_agent HGNC:4335 MONDO:0011717 NCBIGene:9922 biolink:gene_associated_with_condition MONDO:0032870 infores:ubergraph knowledge_assertion manual_agent HGNC:29112 MONDO:0032870 NCBIGene:2201 biolink:gene_associated_with_condition MONDO:0014501 infores:ubergraph knowledge_assertion manual_agent HGNC:3604 MONDO:0014501 NCBIGene:7025 biolink:gene_associated_with_condition MONDO:0014320 infores:clingen NCBIGene:7025 MONDO:0014320 Definitive 2022-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aa4efce-b5b8-4cbd-b043-bb89c5283e3c-2022-02-16T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7516 biolink:gene_associated_with_condition MONDO:0030869 infores:ubergraph knowledge_assertion manual_agent HGNC:12829 MONDO:0030869 NCBIGene:375748 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:375748 MONDO:0700096 No evidence available 0 true NCBIGene:2643 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2643 MONDO:0700096 No evidence available 0 true NCBIGene:5515 biolink:gene_associated_with_condition MONDO:0032697 infores:ubergraph knowledge_assertion manual_agent HGNC:9299 MONDO:0032697 NCBIGene:388552 biolink:gene_associated_with_condition MONDO:0013560 infores:clingen HGNC:20914 MONDO:0013560 Moderate 2025-04-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdeec503-f903-4507-89e7-33c9255b5ad1-2025-04-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:90624 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:90624 MONDO:0700096 No evidence available 0 true NCBIGene:551 biolink:gene_associated_with_condition MONDO:0007450 infores:ubergraph knowledge_assertion manual_agent HGNC:894 MONDO:0007450 NCBIGene:9179 biolink:gene_associated_with_condition MONDO:0100176 infores:clingen HGNC:574 MONDO:0100176 Definitive 2021-04-06T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f49be3e4-4e1f-478b-b4e0-f41623e5b548-2021-04-06T220000.000Z AR Autosomal Recessive 0000007 NCBIGene:54768 biolink:gene_associated_with_condition MONDO:0012088 infores:ubergraph knowledge_assertion manual_agent HGNC:19368 MONDO:0012088 NCBIGene:3097 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3097 MONDO:0700096 No evidence available 0 true NCBIGene:10134 biolink:gene_associated_with_condition MONDO:0010334 infores:clingen NCBIGene:10134 MONDO:0010334 Definitive 2023-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d31d5251-bedd-49e9-b0bb-5ff6923edcf7-2023-08-02T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3208 biolink:gene_associated_with_condition MONDO:0009141 infores:ubergraph knowledge_assertion manual_agent HGNC:5144 MONDO:0009141 NCBIGene:1420 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1420 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7030 biolink:gene_associated_with_condition MONDO:0010456 infores:ubergraph knowledge_assertion manual_agent HGNC:11752 MONDO:0010456 NCBIGene:121512 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:19125 MONDO:0015626 Definitive 2020-04-14T13:18:22.010Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0aae8cd-9d57-4d8c-83ae-ed968cf186bc-2020-04-14T131822.010Z AR Autosomal Recessive 0000007 NCBIGene:9427 biolink:gene_associated_with_condition MONDO:0014028 infores:ubergraph knowledge_assertion manual_agent HGNC:3147 MONDO:0014028 NCBIGene:7037 biolink:gene_associated_with_condition MONDO:0014760 infores:ubergraph knowledge_assertion manual_agent HGNC:11763 MONDO:0014760 NCBIGene:1491 biolink:gene_associated_with_condition MONDO:0009058 infores:ubergraph knowledge_assertion manual_agent HGNC:2501 MONDO:0009058 NCBIGene:10225 biolink:gene_associated_with_condition MONDO:0008893 infores:clingen HGNC:16892 MONDO:0008893 Limited 2025-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdae504e-96de-425c-a175-8934a38510de-2025-01-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6595 biolink:gene_associated_with_condition MONDO:0011053 infores:clingen NCBIGene:6595 MONDO:0011053 Definitive 2020-08-18T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cde86bc-f99f-40cf-8c32-eac9f8f8a67d-2020-08-18T100000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:64423 biolink:gene_associated_with_condition MONDO:0013191 infores:ubergraph knowledge_assertion manual_agent HGNC:23791 MONDO:0013191 NCBIGene:8560 biolink:gene_associated_with_condition MONDO:0032730 infores:ubergraph knowledge_assertion manual_agent HGNC:13709 MONDO:0032730 NCBIGene:2327 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2327 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:51611 biolink:gene_associated_with_condition MONDO:0859295 infores:ubergraph knowledge_assertion manual_agent HGNC:24270 MONDO:0859295 NCBIGene:56978 biolink:gene_associated_with_condition MONDO:0014717 infores:ubergraph knowledge_assertion manual_agent HGNC:13993 MONDO:0014717 NCBIGene:8443 biolink:gene_associated_with_condition MONDO:0100273 infores:ubergraph knowledge_assertion manual_agent HGNC:4416 MONDO:0100273 NCBIGene:11151 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11151 MONDO:0700096 No evidence available 0 true NCBIGene:200424 biolink:gene_associated_with_condition MONDO:0032922 infores:clingen HGNC:28313 MONDO:0032922 Limited 2023-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57cad65b-fa25-426c-a246-b194f7f961ce-2023-11-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:950 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:1665 MONDO:0020074 Definitive 2020-08-23T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc556613-cf24-44ee-8354-98ce91f78d7d-2020-08-23T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:285440 biolink:gene_associated_with_condition MONDO:0008865 infores:clingen NCBIGene:285440 MONDO:0008865 Definitive 2021-04-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da577a4b-5c65-43fa-9a03-b275eaacb6eb-2021-04-01T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:84061 biolink:gene_associated_with_condition MONDO:0010455 infores:ubergraph knowledge_assertion manual_agent HGNC:28880 MONDO:0010455 NCBIGene:10785 biolink:gene_associated_with_condition MONDO:0032691 infores:ubergraph knowledge_assertion manual_agent HGNC:12756 MONDO:0032691 NCBIGene:4990 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4990 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4649 biolink:gene_associated_with_condition MONDO:0015225 infores:clingen HGNC:7608 MONDO:0015225 Limited 2016-11-24T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5465 AR Autosomal Recessive 0000007 NCBIGene:84433 biolink:gene_associated_with_condition MONDO:0014645 infores:clingen HGNC:16393 MONDO:0014645 Definitive 2022-03-15T13:13:18.170Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23dd1a19-585b-46bb-9241-682b200bfd7d-2022-03-15T131318.170Z AD Autosomal Dominant 0000006 NCBIGene:6789 biolink:gene_associated_with_condition MONDO:0013934 infores:clingen HGNC:11408 MONDO:0013934 Definitive 2022-06-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0febeeb3-1a55-41c2-905c-c1d0619aa45b-2022-06-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3611 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:6040 MONDO:0005021 No Known Disease Relationship 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_540f2706-1c1a-452e-b5b9-334728b11e40-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:171023 biolink:gene_associated_with_condition MONDO:0011510 infores:clingen NCBIGene:171023 MONDO:0011510 Definitive 2021-07-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31e0ce4d-aeb7-4983-9ec2-85178d7f40f0-2021-07-30T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9772 biolink:gene_associated_with_condition MONDO:0032672 infores:clingen NCBIGene:9772 MONDO:0032672 Definitive 2024-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9053be11-f8c6-4c9a-8efa-487e07abf52e-2024-06-05T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10195 biolink:gene_associated_with_condition MONDO:0010998 infores:ubergraph knowledge_assertion manual_agent HGNC:23056 MONDO:0010998 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0010395 infores:ubergraph knowledge_assertion manual_agent HGNC:9462 MONDO:0010395 NCBIGene:3508 biolink:gene_associated_with_condition MONDO:0011436 infores:ubergraph knowledge_assertion manual_agent HGNC:5542 MONDO:0011436 NCBIGene:1837 biolink:gene_associated_with_condition MONDO:0975830 infores:ubergraph knowledge_assertion manual_agent HGNC:3057 MONDO:0975830 NCBIGene:220136 biolink:gene_associated_with_condition MONDO:0013887 infores:ubergraph knowledge_assertion manual_agent HGNC:26530 MONDO:0013887 NCBIGene:2710 biolink:gene_associated_with_condition MONDO:0010613 infores:clingen NCBIGene:2710 MONDO:0010613 Definitive 2022-01-14T17:41:34.555Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8965e78-8d6a-4b8a-af2d-e05097d791e0-2022-01-14T174134.555Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:25974 biolink:gene_associated_with_condition MONDO:0010184 infores:ubergraph knowledge_assertion manual_agent HGNC:24525 MONDO:0010184 NCBIGene:2138 biolink:gene_associated_with_condition MONDO:0011258 infores:ubergraph knowledge_assertion manual_agent HGNC:3519 MONDO:0011258 NCBIGene:6197 biolink:gene_associated_with_condition MONDO:0010447 infores:ubergraph knowledge_assertion manual_agent HGNC:10432 MONDO:0010447 NCBIGene:1600 biolink:gene_associated_with_condition MONDO:0014410 infores:ubergraph knowledge_assertion manual_agent HGNC:2661 MONDO:0014410 NCBIGene:861 biolink:gene_associated_with_condition MONDO:0011071 infores:clingen HGNC:10471 MONDO:0011071 Definitive 2018-06-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aed341-58db-459b-a750-7142e29b420b-2018-06-04T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2625 biolink:gene_associated_with_condition MONDO:0007797 infores:clingen NCBIGene:2625 MONDO:0007797 Definitive 2019-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6e0d5-81a5-439a-a498-9edc8505a367-2019-06-18T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2591 biolink:gene_associated_with_condition MONDO:0100252 infores:ubergraph knowledge_assertion manual_agent HGNC:4125 MONDO:0100252 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0100135 infores:clingen HGNC:10585 MONDO:0100135 Definitive 2019-08-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60334a15-c73e-42ce-b7d2-4796c2affde4-2019-08-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:695 biolink:gene_associated_with_condition MONDO:0010421 infores:clingen NCBIGene:695 MONDO:0010421 Definitive 2020-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc4d594-2103-46ad-a786-f4bda9b95995-2020-10-20T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4149 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen NCBIGene:4149 MONDO:0017366 Definitive 2021-06-16T14:46:32.357Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ae9a06-6429-4b4b-b008-e1454511d5be-2021-06-16T144632.357Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:27316 biolink:gene_associated_with_condition MONDO:0010277 infores:ubergraph knowledge_assertion manual_agent HGNC:9910 MONDO:0010277 NCBIGene:2998 biolink:gene_associated_with_condition MONDO:0009414 infores:ubergraph knowledge_assertion manual_agent HGNC:4707 MONDO:0009414 NCBIGene:5993 biolink:gene_associated_with_condition MONDO:0971014 infores:ubergraph knowledge_assertion manual_agent HGNC:9986 MONDO:0971014 NCBIGene:5193 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8854 MONDO:0019234 Definitive 2019-12-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_124c97b0-92ed-4921-a0b9-2ff33135139d-2019-12-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4645 biolink:gene_associated_with_condition MONDO:0009635 infores:clingen NCBIGene:4645 MONDO:0009635 Gene associated with autosomal recessive phenotype 30 NCBIGene:284098 biolink:gene_associated_with_condition MONDO:0014457 infores:ubergraph knowledge_assertion manual_agent HGNC:23213 MONDO:0014457 NCBIGene:847 biolink:gene_associated_with_condition MONDO:0013571 infores:clingen HGNC:1516 MONDO:0013571 Moderate 2025-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7381d0cc-74d3-4dfc-bc2e-62416afbb0ee-2025-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:835 biolink:gene_associated_with_condition MONDO:0957999 infores:ubergraph knowledge_assertion manual_agent HGNC:1503 MONDO:0957999 NCBIGene:1615 biolink:gene_associated_with_condition MONDO:0014115 infores:ubergraph knowledge_assertion manual_agent HGNC:2678 MONDO:0014115 NCBIGene:117581 biolink:gene_associated_with_condition MONDO:0009203 infores:clingen NCBIGene:117581 MONDO:0009203 Gene associated with autosomal recessive phenotype 30 NCBIGene:6453 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6453 MONDO:0700096 No evidence available 0 true NCBIGene:55012 biolink:gene_associated_with_condition MONDO:0032738 infores:ubergraph knowledge_assertion manual_agent HGNC:17485 MONDO:0032738 NCBIGene:5331 biolink:gene_associated_with_condition MONDO:0030074 infores:ubergraph knowledge_assertion manual_agent HGNC:9056 MONDO:0030074 NCBIGene:146167 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:146167 MONDO:0700096 No evidence available 0 true NCBIGene:5500 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5500 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:783 biolink:gene_associated_with_condition MONDO:0012743 infores:ubergraph knowledge_assertion manual_agent HGNC:1402 MONDO:0012743 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0011381 infores:clingen HGNC:4827 MONDO:0011381 Definitive 2023-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b52b6f04-67a6-4c4b-9765-2067e3b1e297-2023-03-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10682 biolink:gene_associated_with_condition MONDO:0020603 infores:ubergraph knowledge_assertion manual_agent HGNC:3133 MONDO:0020603 NCBIGene:3955 biolink:gene_associated_with_condition MONDO:0012349 infores:clingen NCBIGene:3955 MONDO:0012349 Gene associated with autosomal recessive phenotype 30 NCBIGene:26504 biolink:gene_associated_with_condition MONDO:0009007 infores:ubergraph knowledge_assertion manual_agent HGNC:105 MONDO:0009007 NCBIGene:4628 biolink:gene_associated_with_condition MONDO:0100465 infores:clingen HGNC:7568 MONDO:0100465 Definitive 2024-06-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79e5c1e4-adcf-44b3-b995-dcd73d5fd9ff-2024-06-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1315 biolink:gene_associated_with_condition MONDO:0031002 infores:ubergraph knowledge_assertion manual_agent HGNC:2231 MONDO:0031002 NCBIGene:7074 biolink:gene_associated_with_condition MONDO:0859256 infores:ubergraph knowledge_assertion manual_agent HGNC:11805 MONDO:0859256 NCBIGene:285498 biolink:gene_associated_with_condition MONDO:0030508 infores:ubergraph knowledge_assertion manual_agent HGNC:27729 MONDO:0030508 NCBIGene:55107 biolink:gene_associated_with_condition MONDO:0958202 infores:ubergraph knowledge_assertion manual_agent HGNC:21625 MONDO:0958202 NCBIGene:51206 biolink:gene_associated_with_condition MONDO:0013623 infores:ubergraph knowledge_assertion manual_agent HGNC:14388 MONDO:0013623 NCBIGene:10686 biolink:gene_associated_with_condition MONDO:0009550 infores:clingen HGNC:2037 MONDO:0009550 Definitive 2023-12-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd2b60d4-b932-4d0b-bc46-d6b0827a6333-2023-12-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0030859 infores:ubergraph knowledge_assertion manual_agent HGNC:29253 MONDO:0030859 NCBIGene:30012 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:30012 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4314 biolink:gene_associated_with_condition MONDO:0013765 infores:ubergraph knowledge_assertion manual_agent HGNC:7173 MONDO:0013765 NCBIGene:858 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:1528 MONDO:0004976 Limited 2023-12-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38faae4c-13ae-4c28-bea4-43e3ad15e178-2023-12-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1660 biolink:gene_associated_with_condition MONDO:0975838 infores:ubergraph knowledge_assertion manual_agent HGNC:2750 MONDO:0975838 NCBIGene:3340 biolink:gene_associated_with_condition MONDO:0014499 infores:ubergraph knowledge_assertion manual_agent HGNC:7680 MONDO:0014499 NCBIGene:3617 biolink:gene_associated_with_condition MONDO:1040036 infores:clingen HGNC:6055 MONDO:1040036 Definitive 2023-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6816122-6b22-4ac8-bc20-f1cc68b3b7ed-2023-09-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9076 biolink:gene_associated_with_condition MONDO:0011874 infores:ubergraph knowledge_assertion manual_agent HGNC:2032 MONDO:0011874 NCBIGene:7253 biolink:gene_associated_with_condition MONDO:0011309 infores:ubergraph knowledge_assertion manual_agent HGNC:12373 MONDO:0011309 NCBIGene:1718 biolink:gene_associated_with_condition MONDO:0011217 infores:clingen HGNC:2859 MONDO:0011217 Definitive 2025-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0bfe726-6062-406f-bbcf-ccd1f21ba987-2025-06-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51780 biolink:gene_associated_with_condition MONDO:0030012 infores:ubergraph knowledge_assertion manual_agent HGNC:1337 MONDO:0030012 NCBIGene:201163 biolink:gene_associated_with_condition MONDO:0008259 infores:ubergraph knowledge_assertion manual_agent HGNC:27310 MONDO:0008259 NCBIGene:659 biolink:gene_associated_with_condition MONDO:0024533 infores:ubergraph knowledge_assertion manual_agent HGNC:1078 MONDO:0024533 NCBIGene:25871 biolink:gene_associated_with_condition MONDO:0030019 infores:ubergraph knowledge_assertion manual_agent HGNC:24496 MONDO:0030019 NCBIGene:92749 biolink:gene_associated_with_condition MONDO:0859364 infores:ubergraph knowledge_assertion manual_agent HGNC:24245 MONDO:0859364 NCBIGene:80184 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80184 MONDO:0700096 No evidence available 0 true NCBIGene:26263 biolink:gene_associated_with_condition MONDO:0976286 infores:ubergraph knowledge_assertion manual_agent HGNC:13593 MONDO:0976286 NCBIGene:1317 biolink:gene_associated_with_condition MONDO:0957211 infores:ubergraph knowledge_assertion manual_agent HGNC:11016 MONDO:0957211 NCBIGene:2254 biolink:gene_associated_with_condition MONDO:0013064 infores:ubergraph knowledge_assertion manual_agent HGNC:3687 MONDO:0013064 NCBIGene:84720 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84720 MONDO:0700096 No evidence available 0 true NCBIGene:1286 biolink:gene_associated_with_condition MONDO:0008762 infores:ubergraph knowledge_assertion manual_agent HGNC:2206 MONDO:0008762 NCBIGene:9578 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:9578 MONDO:0100038 Some evidence for dosage pathogenicity 2 NCBIGene:54834 biolink:gene_associated_with_condition MONDO:0032706 infores:clingen HGNC:18010 MONDO:0032706 Strong 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1126fa6f-92b9-46c9-8967-b11a388e62b0-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4901 biolink:gene_associated_with_condition MONDO:0013402 infores:clingen HGNC:8002 MONDO:0013402 Definitive 2025-03-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_008f8603-d642-4212-a927-399f3faa35a9-2025-03-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1501 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1501 MONDO:0700096 No evidence available 0 true NCBIGene:2548 biolink:gene_associated_with_condition MONDO:0009290 infores:ubergraph knowledge_assertion manual_agent HGNC:4065 MONDO:0009290 NCBIGene:5573 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5573 MONDO:0700096 No evidence available 0 true NCBIGene:26610 biolink:gene_associated_with_condition MONDO:0014937 infores:ubergraph knowledge_assertion manual_agent HGNC:1171 MONDO:0014937 NCBIGene:51341 biolink:gene_associated_with_condition MONDO:0859231 infores:ubergraph knowledge_assertion manual_agent HGNC:18078 MONDO:0859231 NCBIGene:4068 biolink:gene_associated_with_condition MONDO:0024551 infores:clingen NCBIGene:4068 MONDO:0024551 Definitive 2025-10-14T01:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84424550-05f1-438f-92d4-86ec7437a41c-2025-10-14T010000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9414 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:11828 MONDO:0019497 Limited 2022-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb5c5be5-918d-4ba5-b4ad-e243119a7e6a-2022-01-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7136 biolink:gene_associated_with_condition MONDO:0020820 infores:ubergraph knowledge_assertion manual_agent HGNC:11946 MONDO:0020820 NCBIGene:11277 biolink:gene_associated_with_condition MONDO:0700256 infores:ubergraph knowledge_assertion manual_agent HGNC:12269 MONDO:0700256 NCBIGene:8737 biolink:gene_associated_with_condition MONDO:0020849 infores:clingen HGNC:10019 MONDO:0020849 Definitive 2025-09-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f6ca2fb-f7dc-42e8-b1bf-40ec8a47ea31-2025-09-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:50628 biolink:gene_associated_with_condition MONDO:0060664 infores:ubergraph knowledge_assertion manual_agent HGNC:15717 MONDO:0060664 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0013074 infores:ubergraph knowledge_assertion manual_agent HGNC:3688 MONDO:0013074 NCBIGene:3020 biolink:gene_associated_with_condition MONDO:0030606 infores:clingen HGNC:4764 MONDO:0030606 Definitive 2024-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92b54362-8c84-407b-bf92-5f67bee55ed3-2024-03-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:351 biolink:gene_associated_with_condition MONDO:0015140 infores:clingen NCBIGene:351 MONDO:0015140 Little evidence for dosage pathogenicity 1 true NCBIGene:23405 biolink:gene_associated_with_condition MONDO:0100216 infores:ubergraph knowledge_assertion manual_agent HGNC:17098 MONDO:0100216 NCBIGene:10002 biolink:gene_associated_with_condition MONDO:0100288 infores:ubergraph knowledge_assertion manual_agent HGNC:7974 MONDO:0100288 NCBIGene:4722 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7710 MONDO:0009723 Moderate 2019-06-20T16:25:02.779Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ae2af25-4fc1-48c3-a289-fae04977b192-2019-06-20T162502.779Z AR Autosomal Recessive 0000007 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0008647 infores:ubergraph knowledge_assertion manual_agent HGNC:7577 MONDO:0008647 NCBIGene:6389 biolink:gene_associated_with_condition MONDO:0031006 infores:ubergraph knowledge_assertion manual_agent HGNC:10680 MONDO:0031006 NCBIGene:8720 biolink:gene_associated_with_condition MONDO:0032721 infores:clingen HGNC:15456 MONDO:0032721 Definitive 2024-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bcb2ba1-90ff-48b3-860b-a658c0e9abed-2024-05-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6444 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:10807 MONDO:0005021 No Known Disease Relationship 2025-03-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59326e1b-5cc1-4dfe-8d67-3379aa305c40-2025-03-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26074 biolink:gene_associated_with_condition MONDO:0957301 infores:ubergraph knowledge_assertion manual_agent HGNC:15872 MONDO:0957301 NCBIGene:25929 biolink:gene_associated_with_condition MONDO:0859152 infores:ubergraph knowledge_assertion manual_agent HGNC:20043 MONDO:0859152 NCBIGene:165 biolink:gene_associated_with_condition MONDO:0054813 infores:ubergraph knowledge_assertion manual_agent HGNC:303 MONDO:0054813 NCBIGene:80173 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:21424 MONDO:0005308 Definitive 2025-08-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99b96c70-961b-462d-a132-23ef4cb3423c-2025-08-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6742 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:11317 MONDO:0009723 Limited 2021-06-14T14:48:03.625Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ef6f4e7-6e59-4eaf-b303-7f975542d1b9-2021-06-14T144803.625Z AD Autosomal Dominant 0000006 NCBIGene:3158 biolink:gene_associated_with_condition MONDO:0011614 infores:clingen HGNC:5008 MONDO:0011614 Definitive 2018-05-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3f49254-4635-4961-83b9-31c7ebc7f159-2018-05-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84700 biolink:gene_associated_with_condition MONDO:0014689 infores:clingen HGNC:18150 MONDO:0014689 Definitive 2025-04-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00998e50-dd3f-4bfa-8500-34d34980d5c8-2025-04-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1730 biolink:gene_associated_with_condition MONDO:0010350 infores:ubergraph knowledge_assertion manual_agent HGNC:2877 MONDO:0010350 NCBIGene:3339 biolink:gene_associated_with_condition MONDO:0016151 infores:ubergraph knowledge_assertion manual_agent HGNC:5273 MONDO:0016151 NCBIGene:6662 biolink:gene_associated_with_condition MONDO:0014634 infores:ubergraph knowledge_assertion manual_agent HGNC:11204 MONDO:0014634 NCBIGene:23095 biolink:gene_associated_with_condition MONDO:0007308 infores:clingen HGNC:16636 MONDO:0007308 No Known Disease Relationship 2020-10-05T16:19:30.420Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z AD Autosomal Dominant 0000006 NCBIGene:1723 biolink:gene_associated_with_condition MONDO:0009903 infores:ubergraph knowledge_assertion manual_agent HGNC:2867 MONDO:0009903 NCBIGene:55755 biolink:gene_associated_with_condition MONDO:0016660 infores:clingen HGNC:18672 MONDO:0016660 Definitive 2022-01-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70dace84-4d61-44f5-9de5-a81b5c70cad4-2022-01-25T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1785 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:2974 MONDO:0015626 Definitive 2020-10-27T13:18:27.010Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc54e5d-eed5-4d40-9e0d-143bfeb88cac-2020-10-27T131827.010Z AD Autosomal Dominant 0000006 NCBIGene:56683 biolink:gene_associated_with_condition MONDO:0014211 infores:ubergraph knowledge_assertion manual_agent HGNC:1301 MONDO:0014211 NCBIGene:2103 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:3473 MONDO:0019497 Definitive 2018-04-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03c875bb-70aa-4652-a7f2-35df1065165b-2018-04-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4306 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4306 MONDO:0700096 No evidence available 0 true NCBIGene:79581 biolink:gene_associated_with_condition MONDO:0013867 infores:ubergraph knowledge_assertion manual_agent HGNC:30224 MONDO:0013867 NCBIGene:205327 biolink:gene_associated_with_condition MONDO:0030378 infores:ubergraph knowledge_assertion manual_agent HGNC:26799 MONDO:0030378 NCBIGene:6010 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:10012 MONDO:0019118 Definitive 2025-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29542633-051c-4b06-af52-d2c5a2a8ee90-2025-02-20T170000.000Z SD Semidominant 0032113 NCBIGene:8131 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8131 MONDO:0700096 No evidence available 0 true NCBIGene:25861 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:16361 MONDO:0019497 Moderate 2024-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3188ec93-954a-4daa-b99d-7c5fccad8e1a-2024-01-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:478 biolink:gene_associated_with_condition MONDO:0700002 infores:clingen HGNC:801 MONDO:0700002 Definitive 2022-05-22T06:35:13.942Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a572fef-35c5-46dd-8a69-af436b3ecdcc-2022-05-22T063513.942Z AD Autosomal Dominant 0000006 NCBIGene:10765 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10765 MONDO:0700096 No evidence available 0 true NCBIGene:3716 biolink:gene_associated_with_condition MONDO:0035548 infores:ubergraph knowledge_assertion manual_agent HGNC:6190 MONDO:0035548 NCBIGene:259232 biolink:gene_associated_with_condition MONDO:0024567 infores:ubergraph knowledge_assertion manual_agent HGNC:19082 MONDO:0024567 NCBIGene:55163 biolink:gene_associated_with_condition MONDO:0012407 infores:clingen HGNC:30260 MONDO:0012407 Definitive 2020-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff7b38-dd26-458a-afbb-4870785c42ec-2020-12-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4781 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen NCBIGene:4781 MONDO:0800439 Definitive 2024-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e1ef9a4-9da5-4455-bfdf-5ad59f7b3270-2024-06-18T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6935 biolink:gene_associated_with_condition MONDO:0013206 infores:ubergraph knowledge_assertion manual_agent HGNC:11642 MONDO:0013206 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0011382 infores:ubergraph knowledge_assertion manual_agent HGNC:4827 MONDO:0011382 NCBIGene:23152 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23152 MONDO:0700096 No evidence available 0 true NCBIGene:1140 biolink:gene_associated_with_condition MONDO:0014581 infores:ubergraph knowledge_assertion manual_agent HGNC:1961 MONDO:0014581 NCBIGene:2022 biolink:gene_associated_with_condition MONDO:0008535 infores:clingen NCBIGene:2022 MONDO:0008535 Definitive 2022-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4d13b4a-f97b-45d0-9b82-07bcb6685a0a-2022-12-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:283489 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:283489 MONDO:0700096 No evidence available 0 true NCBIGene:1413 biolink:gene_associated_with_condition MONDO:0012489 infores:ubergraph knowledge_assertion manual_agent HGNC:2396 MONDO:0012489 NCBIGene:10253 biolink:gene_associated_with_condition MONDO:0014786 infores:ubergraph knowledge_assertion manual_agent HGNC:11270 MONDO:0014786 NCBIGene:200576 biolink:gene_associated_with_condition MONDO:0007376 infores:ubergraph knowledge_assertion manual_agent HGNC:23785 MONDO:0007376 NCBIGene:3149 biolink:gene_associated_with_condition MONDO:0010485 infores:ubergraph knowledge_assertion manual_agent HGNC:5004 MONDO:0010485 NCBIGene:10274 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10274 MONDO:0700096 No evidence available 0 true NCBIGene:7818 biolink:gene_associated_with_condition MONDO:0976232 infores:ubergraph knowledge_assertion manual_agent HGNC:2673 MONDO:0976232 NCBIGene:4609 biolink:gene_associated_with_condition MONDO:0007243 infores:ubergraph knowledge_assertion manual_agent HGNC:7553 MONDO:0007243 NCBIGene:34 biolink:gene_associated_with_condition MONDO:0008721 infores:ubergraph knowledge_assertion manual_agent HGNC:89 MONDO:0008721 NCBIGene:7050 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7050 MONDO:0700096 No evidence available 0 true NCBIGene:3588 biolink:gene_associated_with_condition MONDO:0012941 infores:clingen HGNC:5965 MONDO:0012941 Definitive 2024-12-10T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5330f7a-01cc-4a03-bcde-2846fb5700d5-2024-12-10T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:51763 biolink:gene_associated_with_condition MONDO:0024607 infores:ubergraph knowledge_assertion manual_agent HGNC:33882 MONDO:0024607 NCBIGene:64072 biolink:gene_associated_with_condition MONDO:0054601 infores:ubergraph knowledge_assertion manual_agent HGNC:13733 MONDO:0054601 NCBIGene:10501 biolink:gene_associated_with_condition MONDO:0030034 infores:ubergraph knowledge_assertion manual_agent HGNC:10739 MONDO:0030034 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3239 MONDO:0700096 No evidence available 0 true NCBIGene:8799 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8853 MONDO:0019234 Definitive 2020-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93eacb33-b099-485d-bf8a-782479dc0a3b-2020-01-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9364 biolink:gene_associated_with_condition MONDO:0100448 infores:ubergraph knowledge_assertion manual_agent HGNC:9768 MONDO:0100448 NCBIGene:6476 biolink:gene_associated_with_condition MONDO:0009114 infores:clingen NCBIGene:6476 MONDO:0009114 Gene associated with autosomal recessive phenotype 30 NCBIGene:60529 biolink:gene_associated_with_condition MONDO:0014232 infores:ubergraph knowledge_assertion manual_agent HGNC:450 MONDO:0014232 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0011013 infores:ubergraph knowledge_assertion manual_agent HGNC:1514 MONDO:0011013 NCBIGene:374291 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7714 MONDO:0044970 Definitive 2024-04-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64c32007-a9f5-4bf4-8694-8aba531341bf-2024-04-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:23030 biolink:gene_associated_with_condition MONDO:0023657 infores:ubergraph knowledge_assertion manual_agent HGNC:29136 MONDO:0023657 NCBIGene:4763 biolink:gene_associated_with_condition MONDO:0011035 infores:ubergraph knowledge_assertion manual_agent HGNC:7765 MONDO:0011035 NCBIGene:5002 biolink:gene_associated_with_condition MONDO:0009993 infores:ubergraph knowledge_assertion manual_agent HGNC:10964 MONDO:0009993 NCBIGene:7439 biolink:gene_associated_with_condition MONDO:0700238 infores:clingen HGNC:12703 MONDO:0700238 Definitive 2023-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_487a42cc-7dd0-4991-ac9d-1346f59073c0-2023-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23732 biolink:gene_associated_with_condition MONDO:0014859 infores:ubergraph knowledge_assertion manual_agent HGNC:1362 MONDO:0014859 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0013380 infores:ubergraph knowledge_assertion manual_agent HGNC:1097 MONDO:0013380 NCBIGene:22806 biolink:gene_associated_with_condition MONDO:0030333 infores:clingen HGNC:13178 MONDO:0030333 Moderate 2023-03-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9112f2c-325e-4363-8a37-e7a8862bf55b-2023-03-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4718 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7706 MONDO:0044970 Moderate 2023-12-18T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9a01a8-3b86-420f-a7e8-a43898cab9fa-2023-12-18T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:23261 biolink:gene_associated_with_condition MONDO:0013886 infores:ubergraph knowledge_assertion manual_agent HGNC:18806 MONDO:0013886 NCBIGene:85446 biolink:gene_associated_with_condition MONDO:0958106 infores:ubergraph knowledge_assertion manual_agent HGNC:20152 MONDO:0958106 NCBIGene:7545 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7545 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:26057 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:26057 MONDO:0000508 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2892 biolink:gene_associated_with_condition MONDO:0010402 infores:clingen NCBIGene:2892 MONDO:0010402 true Little evidence for dosage pathogenicity 1 NCBIGene:6444 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:10807 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ad12a23-af71-4b3b-8a79-831b4d338c97-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0014658 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0014658 NCBIGene:95 biolink:gene_associated_with_condition MONDO:0012368 infores:ubergraph knowledge_assertion manual_agent HGNC:177 MONDO:0012368 NCBIGene:54928 biolink:gene_associated_with_condition MONDO:0013561 infores:clingen NCBIGene:54928 MONDO:0013561 Moderate 2024-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0edef29-df91-4320-b66d-4cc6a4ec3f94-2024-05-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5373 biolink:gene_associated_with_condition MONDO:0008907 infores:ubergraph knowledge_assertion manual_agent HGNC:9115 MONDO:0008907 NCBIGene:196385 biolink:gene_associated_with_condition MONDO:0030430 infores:clingen HGNC:2941 MONDO:0030430 Moderate 2025-02-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0128b225-6f43-4ed2-b111-a50dde1b25e5-2025-02-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3299 biolink:gene_associated_with_condition MONDO:0007290 infores:ubergraph knowledge_assertion manual_agent HGNC:5227 MONDO:0007290 NCBIGene:4854 biolink:gene_associated_with_condition MONDO:0014122 infores:ubergraph knowledge_assertion manual_agent HGNC:7883 MONDO:0014122 NCBIGene:815 biolink:gene_associated_with_condition MONDO:0030919 infores:ubergraph knowledge_assertion manual_agent HGNC:1460 MONDO:0030919 NCBIGene:3551 biolink:gene_associated_with_condition MONDO:0032599 infores:ubergraph knowledge_assertion manual_agent HGNC:5960 MONDO:0032599 NCBIGene:10083 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10083 MONDO:0700096 No evidence available 0 true NCBIGene:145873 biolink:gene_associated_with_condition MONDO:0012097 infores:ubergraph knowledge_assertion manual_agent HGNC:29659 MONDO:0012097 NCBIGene:81790 biolink:gene_associated_with_condition MONDO:0030512 infores:ubergraph knowledge_assertion manual_agent HGNC:25358 MONDO:0030512 NCBIGene:207 biolink:gene_associated_with_condition MONDO:0014048 infores:ubergraph knowledge_assertion manual_agent HGNC:391 MONDO:0014048 NCBIGene:55823 biolink:gene_associated_with_condition MONDO:0100617 infores:ubergraph knowledge_assertion manual_agent HGNC:14583 MONDO:0100617 NCBIGene:54870 biolink:gene_associated_with_condition MONDO:0060707 infores:ubergraph knowledge_assertion manual_agent HGNC:24713 MONDO:0060707 NCBIGene:92335 biolink:gene_associated_with_condition MONDO:0012611 infores:ubergraph knowledge_assertion manual_agent HGNC:30172 MONDO:0012611 NCBIGene:1896 biolink:gene_associated_with_condition MONDO:0010741 infores:ubergraph knowledge_assertion manual_agent HGNC:3157 MONDO:0010741 NCBIGene:219790 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:19364 MONDO:0005021 No Known Disease Relationship 2025-08-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5457584-d9b3-4bde-87d5-26a4574f19fb-2025-08-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51704 biolink:gene_associated_with_condition MONDO:0957533 infores:ubergraph knowledge_assertion manual_agent HGNC:13308 MONDO:0957533 NCBIGene:1284 biolink:gene_associated_with_condition MONDO:0013773 infores:ubergraph knowledge_assertion manual_agent HGNC:2203 MONDO:0013773 NCBIGene:3848 biolink:gene_associated_with_condition MONDO:0859574 infores:ubergraph knowledge_assertion manual_agent HGNC:6412 MONDO:0859574 NCBIGene:4575 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7498 MONDO:0044970 Definitive 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4af82e37-83b3-4c7a-9cbe-f2b587fcf809-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:9722 biolink:gene_associated_with_condition MONDO:0030895 infores:ubergraph knowledge_assertion manual_agent HGNC:16859 MONDO:0030895 NCBIGene:1576 biolink:gene_associated_with_condition MONDO:0033640 infores:ubergraph knowledge_assertion manual_agent HGNC:2637 MONDO:0033640 NCBIGene:8452 biolink:gene_associated_with_condition MONDO:0013782 infores:clingen HGNC:2553 MONDO:0013782 Definitive 2021-12-01T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f697fb5e-72de-4116-9cad-706e2d651268-2021-12-01T013000.000Z AD Autosomal Dominant 0000006 NCBIGene:7941 biolink:gene_associated_with_condition MONDO:0013663 infores:ubergraph knowledge_assertion manual_agent HGNC:9040 MONDO:0013663 NCBIGene:1523 biolink:gene_associated_with_condition MONDO:0032680 infores:ubergraph knowledge_assertion manual_agent HGNC:2557 MONDO:0032680 NCBIGene:2175 biolink:gene_associated_with_condition MONDO:0009215 infores:ubergraph knowledge_assertion manual_agent HGNC:3582 MONDO:0009215 NCBIGene:407053 biolink:gene_associated_with_condition MONDO:0013114 infores:ubergraph knowledge_assertion manual_agent HGNC:31648 MONDO:0013114 NCBIGene:867 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:867 MONDO:0700096 No evidence available 0 true NCBIGene:5479 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5479 MONDO:0700096 No evidence available 0 true NCBIGene:4361 biolink:gene_associated_with_condition MONDO:0024557 infores:ubergraph knowledge_assertion manual_agent HGNC:7230 MONDO:0024557 NCBIGene:29851 biolink:gene_associated_with_condition MONDO:0015517 infores:clingen HGNC:5351 MONDO:0015517 Definitive 2022-11-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51864ec9-27d9-4a94-9524-d6828b17361d-2022-11-29T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5587 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen NCBIGene:5587 MONDO:0005453 Limited 2024-04-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_913dec3f-cd09-45c7-8cd4-3441ddb5dd77-2024-04-30T160000.000Z AR Autosomal Recessive 0000007 true No evidence available 0 NCBIGene:81704 biolink:gene_associated_with_condition MONDO:0013581 infores:ubergraph knowledge_assertion manual_agent HGNC:19191 MONDO:0013581 NCBIGene:2177 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2177 MONDO:0700096 No evidence available 0 true NCBIGene:846 biolink:gene_associated_with_condition MONDO:0011013 infores:clingen HGNC:1514 MONDO:0011013 Definitive 2023-07-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f699475d-1482-4998-a921-939b8be1bc2c-2023-07-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4292 biolink:gene_associated_with_condition MONDO:0010159 infores:clingen HGNC:7127 MONDO:0010159 Definitive 2018-10-09T15:06:23.105Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a313ad2e-5c2a-4bb4-bed4-3b4f9b5095df-2018-10-09T150623.105Z AR Autosomal Recessive 0000007 NCBIGene:7227 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7227 MONDO:0700096 No evidence available 0 true NCBIGene:7389 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7389 MONDO:0700096 No evidence available 0 true NCBIGene:57128 biolink:gene_associated_with_condition MONDO:0014269 infores:ubergraph knowledge_assertion manual_agent HGNC:21365 MONDO:0014269 NCBIGene:5447 biolink:gene_associated_with_condition MONDO:0008726 infores:ubergraph knowledge_assertion manual_agent HGNC:9208 MONDO:0008726 NCBIGene:7068 biolink:gene_associated_with_condition MONDO:0007784 infores:ubergraph knowledge_assertion manual_agent HGNC:11799 MONDO:0007784 NCBIGene:60481 biolink:gene_associated_with_condition MONDO:0014417 infores:ubergraph knowledge_assertion manual_agent HGNC:21308 MONDO:0014417 NCBIGene:4729 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4729 MONDO:0700096 No evidence available 0 true NCBIGene:57697 biolink:gene_associated_with_condition MONDO:0054862 infores:ubergraph knowledge_assertion manual_agent HGNC:23168 MONDO:0054862 NCBIGene:63910 biolink:gene_associated_with_condition MONDO:0014479 infores:ubergraph knowledge_assertion manual_agent HGNC:16192 MONDO:0014479 NCBIGene:55209 biolink:gene_associated_with_condition MONDO:0014336 infores:ubergraph knowledge_assertion manual_agent HGNC:25566 MONDO:0014336 NCBIGene:8989 biolink:gene_associated_with_condition MONDO:0014021 infores:ubergraph knowledge_assertion manual_agent HGNC:497 MONDO:0014021 NCBIGene:6934 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6934 MONDO:0100038 Definitive 2021-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b11a5317-868b-49a9-b051-721940fb5936-2021-12-15T170000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:2624 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2624 MONDO:0700096 No evidence available 0 true NCBIGene:259266 biolink:gene_associated_with_condition MONDO:0016660 infores:clingen HGNC:19048 MONDO:0016660 Definitive 2024-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41e82e1a-528f-48ee-9e07-22865077f61d-2024-03-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51324 biolink:gene_associated_with_condition MONDO:0009568 infores:ubergraph knowledge_assertion manual_agent HGNC:20373 MONDO:0009568 NCBIGene:83987 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83987 MONDO:0700096 No evidence available 0 true NCBIGene:4784 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4784 MONDO:0700096 No evidence available 0 true NCBIGene:23534 biolink:gene_associated_with_condition MONDO:0015151 infores:clingen HGNC:17103 MONDO:0015151 Definitive 2025-03-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cd2cbd3-46da-490c-9765-40b52750dded-2025-03-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23203 biolink:gene_associated_with_condition MONDO:0008943 infores:ubergraph knowledge_assertion manual_agent HGNC:18667 MONDO:0008943 NCBIGene:1289 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1289 MONDO:0700096 No evidence available 0 true NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0012417 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0012417 NCBIGene:57697 biolink:gene_associated_with_condition MONDO:0100578 infores:clingen HGNC:23168 MONDO:0100578 Definitive 2024-11-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abb231b6-1452-4f24-a8c1-ab45a791e73c-2024-11-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6606 biolink:gene_associated_with_condition MONDO:0010056 infores:ubergraph knowledge_assertion manual_agent HGNC:11117 MONDO:0010056 NCBIGene:89970 biolink:gene_associated_with_condition MONDO:0014748 infores:ubergraph knowledge_assertion manual_agent HGNC:29420 MONDO:0014748 NCBIGene:5592 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:9414 MONDO:0019625 Strong 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8259 AD Autosomal Dominant 0000006 NCBIGene:50945 biolink:gene_associated_with_condition MONDO:0010560 infores:ubergraph knowledge_assertion manual_agent HGNC:11600 MONDO:0010560 NCBIGene:1493 biolink:gene_associated_with_condition MONDO:0011068 infores:ubergraph knowledge_assertion manual_agent HGNC:2505 MONDO:0011068 NCBIGene:100128908 biolink:gene_associated_with_condition MONDO:0859222 infores:ubergraph knowledge_assertion manual_agent HGNC:53647 MONDO:0859222 NCBIGene:8036 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:15454 MONDO:0015280 Disputed 2018-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd8e5069-4023-4763-9b41-03350b03ee7f-2018-06-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7018 biolink:gene_associated_with_condition MONDO:0008846 infores:ubergraph knowledge_assertion manual_agent HGNC:11740 MONDO:0008846 NCBIGene:1804 biolink:gene_associated_with_condition MONDO:0014580 infores:ubergraph knowledge_assertion manual_agent HGNC:3010 MONDO:0014580 NCBIGene:51053 biolink:gene_associated_with_condition MONDO:0014794 infores:ubergraph knowledge_assertion manual_agent HGNC:17493 MONDO:0014794 NCBIGene:930 biolink:gene_associated_with_condition MONDO:0013283 infores:ubergraph knowledge_assertion manual_agent HGNC:1633 MONDO:0013283 NCBIGene:81693 biolink:gene_associated_with_condition MONDO:0100156 infores:clingen NCBIGene:81693 MONDO:0100156 Gene associated with autosomal recessive phenotype 30 NCBIGene:348 biolink:gene_associated_with_condition MONDO:0007089 infores:ubergraph knowledge_assertion manual_agent HGNC:613 MONDO:0007089 NCBIGene:9841 biolink:gene_associated_with_condition MONDO:0013553 infores:ubergraph knowledge_assertion manual_agent HGNC:21143 MONDO:0013553 NCBIGene:2896 biolink:gene_associated_with_condition MONDO:0013866 infores:ubergraph knowledge_assertion manual_agent HGNC:4601 MONDO:0013866 NCBIGene:4001 biolink:gene_associated_with_condition MONDO:0030928 infores:ubergraph knowledge_assertion manual_agent HGNC:6637 MONDO:0030928 NCBIGene:4076 biolink:gene_associated_with_condition MONDO:0957985 infores:ubergraph knowledge_assertion manual_agent HGNC:6743 MONDO:0957985 NCBIGene:114879 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:114879 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1009 biolink:gene_associated_with_condition MONDO:0030674 infores:ubergraph knowledge_assertion manual_agent HGNC:1750 MONDO:0030674 NCBIGene:54765 biolink:gene_associated_with_condition MONDO:0014938 infores:clingen HGNC:19016 MONDO:0014938 Limited 2023-03-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c03ad7e1-74ea-4c47-b372-5beb8fbf4e97-2023-03-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1678 biolink:gene_associated_with_condition MONDO:0010578 infores:clingen NCBIGene:1678 MONDO:0010578 Definitive 2017-12-19T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21d3842-b39e-4f98-860a-61a9aa4e2d2b-2017-12-19T050000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2516 biolink:gene_associated_with_condition MONDO:0013065 infores:ubergraph knowledge_assertion manual_agent HGNC:7983 MONDO:0013065 NCBIGene:3978 biolink:gene_associated_with_condition MONDO:0030693 infores:ubergraph knowledge_assertion manual_agent HGNC:6598 MONDO:0030693 NCBIGene:6605 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6605 MONDO:0700096 No evidence available 0 true NCBIGene:221421 biolink:gene_associated_with_condition MONDO:0012979 infores:clingen HGNC:21057 MONDO:0012979 Definitive 2023-10-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25b8ea38-8de2-45b7-95a1-51b33affb747-2023-10-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8048 biolink:gene_associated_with_condition MONDO:0012804 infores:ubergraph knowledge_assertion manual_agent HGNC:2472 MONDO:0012804 NCBIGene:7443 biolink:gene_associated_with_condition MONDO:0011866 infores:ubergraph knowledge_assertion manual_agent HGNC:12718 MONDO:0011866 NCBIGene:131377 biolink:gene_associated_with_condition MONDO:0014138 infores:ubergraph knowledge_assertion manual_agent HGNC:30372 MONDO:0014138 NCBIGene:23093 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23093 MONDO:0700096 No evidence available 0 true NCBIGene:27183 biolink:gene_associated_with_condition MONDO:0035819 infores:ubergraph knowledge_assertion manual_agent HGNC:13488 MONDO:0035819 NCBIGene:163175 biolink:gene_associated_with_condition MONDO:0060486 infores:ubergraph knowledge_assertion manual_agent HGNC:18712 MONDO:0060486 NCBIGene:4436 biolink:gene_associated_with_condition MONDO:0010159 infores:clingen HGNC:7325 MONDO:0010159 Definitive 2018-10-09T14:44:00.302Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce2b2b9-9b04-4a47-b6fa-b85c60ba1c08-2018-10-09T144400.302Z AR Autosomal Recessive 0000007 NCBIGene:10907 biolink:gene_associated_with_condition MONDO:0012064 infores:clingen HGNC:30551 MONDO:0012064 Definitive 2024-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bac99de0-8f34-4166-b8ef-a5c44290281c-2024-02-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51102 biolink:gene_associated_with_condition MONDO:0957978 infores:ubergraph knowledge_assertion manual_agent HGNC:19691 MONDO:0957978 NCBIGene:2566 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2566 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:2165 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2165 MONDO:0700096 No evidence available 0 true NCBIGene:93587 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:93587 MONDO:0700096 No evidence available 0 true NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007885 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0007885 NCBIGene:8898 biolink:gene_associated_with_condition MONDO:0011066 infores:ubergraph knowledge_assertion manual_agent HGNC:7450 MONDO:0011066 NCBIGene:10533 biolink:gene_associated_with_condition MONDO:0030323 infores:clingen HGNC:16935 MONDO:0030323 Strong 2022-09-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bfee65a8-cbc9-4f1a-a4f7-5973ecff593d-2022-09-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57514 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57514 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:259232 biolink:gene_associated_with_condition MONDO:0014556 infores:ubergraph knowledge_assertion manual_agent HGNC:19082 MONDO:0014556 NCBIGene:51095 biolink:gene_associated_with_condition MONDO:0014850 infores:ubergraph knowledge_assertion manual_agent HGNC:17341 MONDO:0014850 NCBIGene:169792 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:169792 MONDO:0700096 No evidence available 0 true NCBIGene:1524 biolink:gene_associated_with_condition MONDO:0013420 infores:ubergraph knowledge_assertion manual_agent HGNC:2558 MONDO:0013420 NCBIGene:23312 biolink:gene_associated_with_condition MONDO:0014497 infores:ubergraph knowledge_assertion manual_agent HGNC:2938 MONDO:0014497 NCBIGene:54888 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:25994 MONDO:0000508 Definitive 2023-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6878f90-f485-4c44-95d3-a33b0ec9f66f-2023-10-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4535 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7455 MONDO:0044970 Definitive 2023-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d55015a-dd90-479e-8e5b-4693e321c705-2023-04-03T160000.000Z MT Mitochondrial 0001427 NCBIGene:641 biolink:gene_associated_with_condition MONDO:0008876 infores:clingen NCBIGene:641 MONDO:0008876 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0a20b67-5a62-462c-894b-76b60a66e979-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:85016 biolink:gene_associated_with_condition MONDO:0054843 infores:ubergraph knowledge_assertion manual_agent HGNC:28188 MONDO:0054843 NCBIGene:26038 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26038 MONDO:0700096 No evidence available 0 true NCBIGene:367 biolink:gene_associated_with_condition MONDO:0010735 infores:clingen HGNC:644 MONDO:0010735 Definitive 2023-08-08T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a05eab29-c7e9-4b2a-9378-ac384962b69c-2023-08-08T190000.000Z XL X-linked 0001417 NCBIGene:801 biolink:gene_associated_with_condition MONDO:0014548 infores:ubergraph knowledge_assertion manual_agent HGNC:1442 MONDO:0014548 NCBIGene:7407 biolink:gene_associated_with_condition MONDO:0060621 infores:ubergraph knowledge_assertion manual_agent HGNC:12651 MONDO:0060621 NCBIGene:55593 biolink:gene_associated_with_condition MONDO:0025351 infores:clingen HGNC:25402 MONDO:0025351 Moderate 2024-07-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a19f1fb-a027-4580-92e5-936b8ca10692-2024-07-19T160000.000Z XL X-linked 0001417 NCBIGene:10533 biolink:gene_associated_with_condition MONDO:0030323 infores:ubergraph knowledge_assertion manual_agent HGNC:16935 MONDO:0030323 NCBIGene:84690 biolink:gene_associated_with_condition MONDO:0975843 infores:ubergraph knowledge_assertion manual_agent HGNC:30705 MONDO:0975843 NCBIGene:3141 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3141 MONDO:0700096 No evidence available 0 true NCBIGene:220296 biolink:gene_associated_with_condition MONDO:0013490 infores:ubergraph knowledge_assertion manual_agent HGNC:26361 MONDO:0013490 NCBIGene:5660 biolink:gene_associated_with_condition MONDO:0009590 infores:clingen HGNC:9498 MONDO:0009590 Definitive 2023-07-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e24c4e4-a97d-4d08-abd9-e190fb001b9d-2023-07-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1503 biolink:gene_associated_with_condition MONDO:0014391 infores:clingen HGNC:2519 MONDO:0014391 Definitive 2024-09-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bbdaddb-5045-4ebc-b74d-f80e7e8529fc-2024-09-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7516 biolink:gene_associated_with_condition MONDO:0014987 infores:clingen HGNC:12829 MONDO:0014987 Limited 2023-10-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c33ed99-86f1-4654-bc88-e8f90191885d-2023-10-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:833 biolink:gene_associated_with_condition MONDO:0030047 infores:ubergraph knowledge_assertion manual_agent HGNC:1493 MONDO:0030047 NCBIGene:85365 biolink:gene_associated_with_condition MONDO:0014543 infores:clingen NCBIGene:85365 MONDO:0014543 Gene associated with autosomal recessive phenotype 30 NCBIGene:10483 biolink:gene_associated_with_condition MONDO:0009134 infores:ubergraph knowledge_assertion manual_agent HGNC:10702 MONDO:0009134 NCBIGene:10329 biolink:gene_associated_with_condition MONDO:0014022 infores:ubergraph knowledge_assertion manual_agent HGNC:13530 MONDO:0014022 NCBIGene:3172 biolink:gene_associated_with_condition MONDO:0014458 infores:ubergraph knowledge_assertion manual_agent HGNC:5024 MONDO:0014458 NCBIGene:26040 biolink:gene_associated_with_condition MONDO:0010010 infores:clingen HGNC:15573 MONDO:0010010 Definitive 2021-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71885c03-b578-4baf-a17c-4817349eaf36-2021-02-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:64131 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64131 MONDO:0700096 No evidence available 0 true NCBIGene:3543 biolink:gene_associated_with_condition MONDO:0013287 infores:clingen NCBIGene:3543 MONDO:0013287 Moderate 2021-12-21T13:32:20.444Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b483cc35-0599-4313-b71a-835cb1096ca5-2021-12-21T133220.444Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5428 biolink:gene_associated_with_condition MONDO:0008758 infores:ubergraph knowledge_assertion manual_agent HGNC:9179 MONDO:0008758 NCBIGene:4694 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7683 MONDO:0009723 Moderate 2019-05-20T18:48:47.372Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_497170a6-a042-46cb-9809-3c3094fcd05e-2019-05-20T184847.372Z XL X-linked 0001417 NCBIGene:81570 biolink:gene_associated_with_condition MONDO:0030726 infores:ubergraph knowledge_assertion manual_agent HGNC:30664 MONDO:0030726 NCBIGene:8322 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8322 MONDO:0700096 No evidence available 0 true NCBIGene:347688 biolink:gene_associated_with_condition MONDO:0021573 infores:ubergraph knowledge_assertion manual_agent HGNC:20773 MONDO:0021573 NCBIGene:284119 biolink:gene_associated_with_condition MONDO:0006573 infores:clingen HGNC:9688 MONDO:0006573 Definitive 2025-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9676952d-3e95-4e05-ac04-04fc1b4ed7b3-2025-01-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7439 biolink:gene_associated_with_condition MONDO:0700238 infores:ubergraph knowledge_assertion manual_agent HGNC:12703 MONDO:0700238 NCBIGene:4487 biolink:gene_associated_with_condition MONDO:0008582 infores:clingen HGNC:7391 MONDO:0008582 Disputed 2023-10-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb08639f-7c58-45f1-8b00-644fcc820a38-2023-10-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:90416 biolink:gene_associated_with_condition MONDO:0030873 infores:clingen HGNC:28295 MONDO:0030873 Moderate 2024-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29c6c0dd-bbaf-45ce-92af-4c67059cac8f-2024-10-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9567 biolink:gene_associated_with_condition MONDO:0975745 infores:ubergraph knowledge_assertion manual_agent HGNC:4669 MONDO:0975745 NCBIGene:57526 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:14270 MONDO:0100148 Definitive 2018-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c00aad39-c6c4-4a46-af84-613592b166a3-2018-09-04T160000.000Z XL X-linked 0001417 NCBIGene:5932 biolink:gene_associated_with_condition MONDO:0011715 infores:ubergraph knowledge_assertion manual_agent HGNC:9891 MONDO:0011715 NCBIGene:4068 biolink:gene_associated_with_condition MONDO:0024551 infores:ubergraph knowledge_assertion manual_agent HGNC:10820 MONDO:0024551 NCBIGene:4292 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen NCBIGene:4292 MONDO:0005835 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24c5d3f4-2bb6-4beb-a781-52bd6962ca41-2022-06-20T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8665 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:3275 MONDO:0000508 Definitive 2023-12-06T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0f623e7-ea96-461a-a348-7aa5a7a1d7ff-2023-12-06T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:51399 biolink:gene_associated_with_condition MONDO:0032894 infores:ubergraph knowledge_assertion manual_agent HGNC:19943 MONDO:0032894 NCBIGene:2395 biolink:gene_associated_with_condition MONDO:0100340 infores:ubergraph knowledge_assertion manual_agent HGNC:3951 MONDO:0100340 NCBIGene:4148 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4148 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1106 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:1917 MONDO:0100038 Definitive 2022-07-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5af80ea6-31c6-47d2-a5a5-299380f5593c-2022-07-14T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:60 MONDO:0700096 No evidence available 0 true NCBIGene:6901 biolink:gene_associated_with_condition MONDO:0010543 infores:ubergraph knowledge_assertion manual_agent HGNC:11577 MONDO:0010543 NCBIGene:4511 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7477 MONDO:0044970 Limited 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3d92b0e-6753-4355-a982-2f9cf7cad8be-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:1760 biolink:gene_associated_with_condition MONDO:0008056 infores:ubergraph knowledge_assertion manual_agent HGNC:2933 MONDO:0008056 NCBIGene:11285 biolink:gene_associated_with_condition MONDO:0020682 infores:clingen NCBIGene:11285 MONDO:0020682 Definitive 2024-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19ab23bf-37ed-46bc-af9e-d3fc39adaf15-2024-08-05T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23097 biolink:gene_associated_with_condition MONDO:0030059 infores:ubergraph knowledge_assertion manual_agent HGNC:19338 MONDO:0030059 NCBIGene:5950 biolink:gene_associated_with_condition MONDO:0014060 infores:ubergraph knowledge_assertion manual_agent HGNC:9922 MONDO:0014060 NCBIGene:7046 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7046 MONDO:0700096 No evidence available 0 true NCBIGene:57217 biolink:gene_associated_with_condition MONDO:0009465 infores:clingen NCBIGene:57217 MONDO:0009465 Definitive 2021-10-21T18:45:17.744Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80cadac5-067c-49e7-a021-ee4eec83984a-2021-10-21T184517.744Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10095 biolink:gene_associated_with_condition MONDO:0060583 infores:clingen HGNC:704 MONDO:0060583 Definitive 2020-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13909f11-a592-41cc-ade9-c77a5b49b253-2020-07-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0012742 infores:ubergraph knowledge_assertion manual_agent HGNC:1390 MONDO:0012742 NCBIGene:7991 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen NCBIGene:7991 MONDO:0001071 Definitive 2020-04-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db38ed95-d1fe-43d6-bf80-c5e3f24f7d1b-2020-04-07T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:55593 biolink:gene_associated_with_condition MONDO:0025351 infores:ubergraph knowledge_assertion manual_agent HGNC:25402 MONDO:0025351 NCBIGene:8473 biolink:gene_associated_with_condition MONDO:0030907 infores:ubergraph knowledge_assertion manual_agent HGNC:8127 MONDO:0030907 NCBIGene:10274 biolink:gene_associated_with_condition MONDO:0030912 infores:ubergraph knowledge_assertion manual_agent HGNC:11354 MONDO:0030912 NCBIGene:79188 biolink:gene_associated_with_condition MONDO:0013677 infores:ubergraph knowledge_assertion manual_agent HGNC:28472 MONDO:0013677 NCBIGene:6794 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6794 MONDO:0700096 No evidence available 0 true NCBIGene:23417 biolink:gene_associated_with_condition MONDO:0009556 infores:ubergraph knowledge_assertion manual_agent HGNC:7150 MONDO:0009556 NCBIGene:6999 biolink:gene_associated_with_condition MONDO:0010907 infores:clingen HGNC:11708 MONDO:0010907 Limited 2023-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b20a4b6d-c43c-4397-bbd2-3d4c6ea6f0e0-2023-11-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:27089 biolink:gene_associated_with_condition MONDO:0014065 infores:ubergraph knowledge_assertion manual_agent HGNC:29594 MONDO:0014065 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0011376 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0011376 NCBIGene:4173 biolink:gene_associated_with_condition MONDO:0012383 infores:clingen HGNC:6947 MONDO:0012383 Moderate 2023-08-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9386eb47-5424-4f27-94d5-0d6709a6587e-2023-08-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6597 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:11100 MONDO:0018630 Limited 2017-05-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9866 AD Autosomal Dominant 0000006 NCBIGene:7305 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7305 MONDO:0700096 No evidence available 0 true NCBIGene:10274 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:10274 MONDO:0100038 Definitive 2022-09-20T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30cc66e4-e3cf-428d-9f27-58e8427c94f1-2022-09-20T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:204219 biolink:gene_associated_with_condition MONDO:0014010 infores:clingen NCBIGene:204219 MONDO:0014010 Gene associated with autosomal recessive phenotype 30 NCBIGene:78989 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:78989 MONDO:0700096 No evidence available 0 true NCBIGene:27245 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27245 MONDO:0700096 No evidence available 0 true NCBIGene:10804 biolink:gene_associated_with_condition MONDO:0012977 infores:ubergraph knowledge_assertion manual_agent HGNC:4288 MONDO:0012977 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0013612 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0013612 NCBIGene:4703 biolink:gene_associated_with_condition MONDO:0030281 infores:ubergraph knowledge_assertion manual_agent HGNC:7720 MONDO:0030281 NCBIGene:777 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:1392 MONDO:0100062 Definitive 2023-12-06T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0cf0db0a-4af2-4e60-ab64-ce0115241caf-2023-12-06T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:84342 biolink:gene_associated_with_condition MONDO:0012635 infores:ubergraph knowledge_assertion manual_agent HGNC:18623 MONDO:0012635 NCBIGene:286151 biolink:gene_associated_with_condition MONDO:0030523 infores:ubergraph knowledge_assertion manual_agent HGNC:28521 MONDO:0030523 NCBIGene:22954 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:16380 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbabe4ea-579e-4d98-a4b7-5ff84ee7f245-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6910 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6910 MONDO:0700096 No evidence available 0 true NCBIGene:85478 biolink:gene_associated_with_condition MONDO:0014215 infores:ubergraph knowledge_assertion manual_agent HGNC:29937 MONDO:0014215 NCBIGene:35 biolink:gene_associated_with_condition MONDO:0008722 infores:clingen HGNC:90 MONDO:0008722 Definitive 2018-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bc94e9-cdf2-4efb-b654-004541efc344-2018-01-23T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:54790 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:25941 MONDO:0015924 Moderate 2025-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c056edd-f72b-43e9-ba40-7504f285cf5a-2025-02-24T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6556 biolink:gene_associated_with_condition MONDO:0012499 infores:ubergraph knowledge_assertion manual_agent HGNC:10907 MONDO:0012499 NCBIGene:9829 biolink:gene_associated_with_condition MONDO:0014231 infores:ubergraph knowledge_assertion manual_agent HGNC:15469 MONDO:0014231 NCBIGene:10717 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10717 MONDO:0700096 No evidence available 0 true NCBIGene:6598 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:11103 MONDO:0015452 Definitive 2023-08-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea554e80-81d2-4100-8d0e-b762ea38fe23-2023-08-15T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:53904 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7601 MONDO:0019497 Definitive 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa3d7b-73a2-43a3-8f13-7dac3fd27737-2023-06-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:785 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:1404 MONDO:0005027 Refuted 2022-07-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2fad131-8e91-4874-9394-8b86d6d62abb-2022-07-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1013 biolink:gene_associated_with_condition MONDO:0012946 infores:clingen NCBIGene:1013 MONDO:0012946 true No evidence available 0 NCBIGene:6301 biolink:gene_associated_with_condition MONDO:0060577 infores:ubergraph knowledge_assertion manual_agent HGNC:10537 MONDO:0060577 NCBIGene:87178 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:23166 MONDO:0009723 Moderate 2020-03-19T19:14:29.965Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ed99943-2ab9-417d-b0ec-ddbfa11c8645-2020-03-19T191429.965Z AR Autosomal Recessive 0000007 NCBIGene:26160 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:30391 MONDO:0005308 Definitive 2025-04-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79f307e3-9ade-42a3-8ab3-ec098c0afea2-2025-04-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:30062 biolink:gene_associated_with_condition MONDO:0012604 infores:clingen NCBIGene:30062 MONDO:0012604 Gene associated with autosomal recessive phenotype 30 NCBIGene:93986 biolink:gene_associated_with_condition MONDO:0016226 infores:clingen NCBIGene:93986 MONDO:0016226 Definitive 2019-05-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b13348d1-1248-4507-aa29-60559e6b410e-2019-05-21T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4628 biolink:gene_associated_with_condition MONDO:0700281 infores:ubergraph knowledge_assertion manual_agent HGNC:7568 MONDO:0700281 NCBIGene:1184 biolink:gene_associated_with_condition MONDO:0010687 infores:ubergraph knowledge_assertion manual_agent HGNC:2023 MONDO:0010687 NCBIGene:4633 biolink:gene_associated_with_condition MONDO:0859168 infores:ubergraph knowledge_assertion manual_agent HGNC:7583 MONDO:0859168 NCBIGene:139285 biolink:gene_associated_with_condition MONDO:0010310 infores:clingen HGNC:26837 MONDO:0010310 Definitive 2024-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0c6c307-2d6c-4893-8f52-5fc6a2e2d440-2024-02-16T170000.000Z XL X-linked 0001417 NCBIGene:23086 biolink:gene_associated_with_condition MONDO:0014014 infores:clingen NCBIGene:23086 MONDO:0014014 Gene associated with autosomal recessive phenotype 30 NCBIGene:51218 biolink:gene_associated_with_condition MONDO:0014803 infores:ubergraph knowledge_assertion manual_agent HGNC:20134 MONDO:0014803 NCBIGene:9839 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9839 MONDO:0700096 No evidence available 0 true NCBIGene:9927 biolink:gene_associated_with_condition MONDO:0011002 infores:ubergraph knowledge_assertion manual_agent HGNC:16877 MONDO:0011002 NCBIGene:79882 biolink:gene_associated_with_condition MONDO:0014930 infores:ubergraph knowledge_assertion manual_agent HGNC:20509 MONDO:0014930 NCBIGene:6341 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10603 MONDO:0044970 Definitive 2022-02-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90d9d757-a45e-4d35-af68-c1345e1d8c65-2022-02-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:26580 biolink:gene_associated_with_condition MONDO:0014402 infores:ubergraph knowledge_assertion manual_agent HGNC:15832 MONDO:0014402 NCBIGene:88 biolink:gene_associated_with_condition MONDO:0700349 infores:ubergraph knowledge_assertion manual_agent HGNC:164 MONDO:0700349 NCBIGene:5148 biolink:gene_associated_with_condition MONDO:1040034 infores:ubergraph knowledge_assertion manual_agent HGNC:8789 MONDO:1040034 NCBIGene:1292 biolink:gene_associated_with_condition MONDO:0100225 infores:clingen HGNC:2212 MONDO:0100225 Definitive 2022-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7a4dad5-f179-44ac-adcb-c5e15c11a1ec-2022-06-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4643 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4643 MONDO:0700096 No evidence available 0 true NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:8975 MONDO:0016248 No Known Disease Relationship 2017-02-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8694 AD Autosomal Dominant 0000006 NCBIGene:10397 biolink:gene_associated_with_condition MONDO:0011085 infores:ubergraph knowledge_assertion manual_agent HGNC:7679 MONDO:0011085 NCBIGene:3707 biolink:gene_associated_with_condition MONDO:0800140 infores:clingen HGNC:6179 MONDO:0800140 Limited 2023-11-16T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0dcb3-b6f6-4af4-951b-3307f4e36b67-2023-11-16T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:6774 biolink:gene_associated_with_condition MONDO:0014414 infores:ubergraph knowledge_assertion manual_agent HGNC:11364 MONDO:0014414 NCBIGene:4913 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4913 MONDO:0700096 No evidence available 0 true NCBIGene:594 biolink:gene_associated_with_condition MONDO:0023692 infores:ubergraph knowledge_assertion manual_agent HGNC:987 MONDO:0023692 NCBIGene:256764 biolink:gene_associated_with_condition MONDO:0013181 infores:ubergraph knowledge_assertion manual_agent HGNC:26790 MONDO:0013181 NCBIGene:27040 biolink:gene_associated_with_condition MONDO:0044721 infores:clingen HGNC:18874 MONDO:0044721 Strong 2022-05-10T13:56:16.950Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf4a8572-c5ab-4a57-a9b3-ef1059180e8a-2022-05-10T135616.950Z AR Autosomal Recessive 0000007 NCBIGene:535 biolink:gene_associated_with_condition MONDO:0031021 infores:ubergraph knowledge_assertion manual_agent HGNC:865 MONDO:0031021 NCBIGene:253827 biolink:gene_associated_with_condition MONDO:0013386 infores:ubergraph knowledge_assertion manual_agent HGNC:27375 MONDO:0013386 NCBIGene:5965 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:9948 MONDO:0016419 Disputed 2023-03-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_777b2a5c-459f-4eee-8a6d-e8bf15b88aca-2023-03-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:768206 biolink:gene_associated_with_condition MONDO:0012523 infores:ubergraph knowledge_assertion manual_agent HGNC:32528 MONDO:0012523 NCBIGene:56975 biolink:gene_associated_with_condition MONDO:0009821 infores:ubergraph knowledge_assertion manual_agent HGNC:22140 MONDO:0009821 NCBIGene:5193 biolink:gene_associated_with_condition MONDO:0100266 infores:ubergraph knowledge_assertion manual_agent HGNC:8854 MONDO:0100266 NCBIGene:51132 biolink:gene_associated_with_condition MONDO:0010506 infores:ubergraph knowledge_assertion manual_agent HGNC:13429 MONDO:0010506 NCBIGene:23005 biolink:gene_associated_with_condition MONDO:0014997 infores:ubergraph knowledge_assertion manual_agent HGNC:29536 MONDO:0014997 NCBIGene:6134 biolink:gene_associated_with_condition MONDO:0030908 infores:ubergraph knowledge_assertion manual_agent HGNC:10298 MONDO:0030908 NCBIGene:87 biolink:gene_associated_with_condition MONDO:0014078 infores:ubergraph knowledge_assertion manual_agent HGNC:163 MONDO:0014078 NCBIGene:2521 biolink:gene_associated_with_condition MONDO:0013888 infores:ubergraph knowledge_assertion manual_agent HGNC:4010 MONDO:0013888 NCBIGene:5079 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:5079 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:6664 biolink:gene_associated_with_condition MONDO:0014376 infores:ubergraph knowledge_assertion manual_agent HGNC:11191 MONDO:0014376 NCBIGene:5083 biolink:gene_associated_with_condition MONDO:0011477 infores:ubergraph knowledge_assertion manual_agent HGNC:8623 MONDO:0011477 NCBIGene:8091 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8091 MONDO:0700096 No evidence available 0 true NCBIGene:9333 biolink:gene_associated_with_condition MONDO:0012345 infores:ubergraph knowledge_assertion manual_agent HGNC:11781 MONDO:0012345 NCBIGene:57158 biolink:gene_associated_with_condition MONDO:0013474 infores:ubergraph knowledge_assertion manual_agent HGNC:14202 MONDO:0013474 NCBIGene:345 biolink:gene_associated_with_condition MONDO:0100188 infores:ubergraph knowledge_assertion manual_agent HGNC:610 MONDO:0100188 NCBIGene:10413 biolink:gene_associated_with_condition MONDO:0007355 infores:clingen NCBIGene:10413 MONDO:0007355 true Little evidence for dosage pathogenicity 1 NCBIGene:1182 biolink:gene_associated_with_condition MONDO:0859188 infores:ubergraph knowledge_assertion manual_agent HGNC:2021 MONDO:0859188 NCBIGene:57492 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57492 MONDO:0700096 No evidence available 0 true NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0013197 infores:ubergraph knowledge_assertion manual_agent HGNC:7576 MONDO:0013197 NCBIGene:11200 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:16627 MONDO:0016248 Refuted 2024-11-04T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e1071da-cc4a-4bbc-b3fa-4cc07393e74a-2024-11-04T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007895 infores:clingen HGNC:2200 MONDO:0007895 Definitive 2021-02-01T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4c42c43-7b6a-4456-aeb1-7a00302a468b-2021-02-01T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:1314 biolink:gene_associated_with_condition MONDO:0014629 infores:ubergraph knowledge_assertion manual_agent HGNC:2230 MONDO:0014629 NCBIGene:84033 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:15719 MONDO:0005021 Limited 2025-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1b69281-f3d0-4efe-998d-db080868b57e-2025-02-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:950 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:950 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4179 biolink:gene_associated_with_condition MONDO:0013040 infores:ubergraph knowledge_assertion manual_agent HGNC:6953 MONDO:0013040 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0013956 infores:ubergraph knowledge_assertion manual_agent HGNC:11362 MONDO:0013956 NCBIGene:10461 biolink:gene_associated_with_condition MONDO:0800394 infores:clingen HGNC:7027 MONDO:0800394 Definitive 2022-07-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b09e0755-aae3-47ef-b438-802285d5963b-2022-07-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2743 biolink:gene_associated_with_condition MONDO:0013828 infores:clingen NCBIGene:2743 MONDO:0013828 Gene associated with autosomal recessive phenotype 30 NCBIGene:26040 biolink:gene_associated_with_condition MONDO:0014482 infores:clingen NCBIGene:26040 MONDO:0014482 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7287 biolink:gene_associated_with_condition MONDO:0013457 infores:ubergraph knowledge_assertion manual_agent HGNC:12423 MONDO:0013457 NCBIGene:2243 biolink:gene_associated_with_condition MONDO:0007099 infores:ubergraph knowledge_assertion manual_agent HGNC:3661 MONDO:0007099 NCBIGene:899 biolink:gene_associated_with_condition MONDO:0030875 infores:clingen HGNC:1591 MONDO:0030875 Limited 2022-04-05T23:04:55.308Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d6c258c-ce66-459a-a4ae-7376fcefde0d-2022-04-05T230455.308Z AD Autosomal Dominant 0000006 NCBIGene:2138 biolink:gene_associated_with_condition MONDO:0007029 infores:clingen HGNC:3519 MONDO:0007029 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dca41ef6-ee63-4b1f-93d3-8b114dafcc58-2017-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1183 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1183 MONDO:0700096 No evidence available 0 true NCBIGene:4591 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4591 MONDO:0700096 No evidence available 0 true NCBIGene:28962 biolink:gene_associated_with_condition MONDO:0009817 infores:ubergraph knowledge_assertion manual_agent HGNC:21652 MONDO:0009817 NCBIGene:9382 biolink:gene_associated_with_condition MONDO:0012637 infores:clingen NCBIGene:9382 MONDO:0012637 Moderate 2024-01-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6607c8c3-e293-49df-904d-da27aa8e0232-2024-01-03T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10749 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10749 MONDO:0700096 No evidence available 0 true NCBIGene:3664 biolink:gene_associated_with_condition MONDO:0007333 infores:clingen NCBIGene:3664 MONDO:0007333 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10273 biolink:gene_associated_with_condition MONDO:0014339 infores:clingen NCBIGene:10273 MONDO:0014339 Gene associated with autosomal recessive phenotype 30 NCBIGene:1725 biolink:gene_associated_with_condition MONDO:0032775 infores:ubergraph knowledge_assertion manual_agent HGNC:2869 MONDO:0032775 NCBIGene:712 biolink:gene_associated_with_condition MONDO:0958182 infores:ubergraph knowledge_assertion manual_agent HGNC:1241 MONDO:0958182 NCBIGene:5591 biolink:gene_associated_with_condition MONDO:0014423 infores:ubergraph knowledge_assertion manual_agent HGNC:9413 MONDO:0014423 NCBIGene:157680 biolink:gene_associated_with_condition MONDO:0008999 infores:clingen NCBIGene:157680 MONDO:0008999 Definitive 2018-08-15T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfc68bc-9f00-4565-b2c7-70ad9f8e2002-2018-08-15T100000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23102 biolink:gene_associated_with_condition MONDO:0859148 infores:ubergraph knowledge_assertion manual_agent HGNC:29183 MONDO:0859148 NCBIGene:54507 biolink:gene_associated_with_condition MONDO:0009153 infores:ubergraph knowledge_assertion manual_agent HGNC:19706 MONDO:0009153 NCBIGene:6890 biolink:gene_associated_with_condition MONDO:0011476 infores:clingen HGNC:43 MONDO:0011476 Definitive 2023-07-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f7ee853-d9f3-424e-9108-43931602d6df-2023-07-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6909 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6909 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:3982 biolink:gene_associated_with_condition MONDO:0014111 infores:ubergraph knowledge_assertion manual_agent HGNC:6610 MONDO:0014111 NCBIGene:23149 biolink:gene_associated_with_condition MONDO:0030898 infores:ubergraph knowledge_assertion manual_agent HGNC:29002 MONDO:0030898 NCBIGene:6567 biolink:gene_associated_with_condition MONDO:0010354 infores:clingen NCBIGene:6567 MONDO:0010354 Definitive 2018-08-09T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9242e32-a339-4426-8ef5-39df0960d390-2018-08-09T100000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6899 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6899 MONDO:0700096 No evidence available 0 true NCBIGene:2138 biolink:gene_associated_with_condition MONDO:0007236 infores:clingen NCBIGene:2138 MONDO:0007236 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8557 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:11610 MONDO:0015152 Definitive 2024-08-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3c6c72e-7c2b-42d4-963b-aeddbbe0e4fc-2024-08-14T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:221692 biolink:gene_associated_with_condition MONDO:0032663 infores:ubergraph knowledge_assertion manual_agent HGNC:20990 MONDO:0032663 NCBIGene:51103 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:18828 MONDO:0044970 Moderate 2022-02-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20bd44f6-360d-42ef-ba08-549773282d2e-2022-02-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:63924 biolink:gene_associated_with_condition MONDO:0014098 infores:clingen NCBIGene:63924 MONDO:0014098 Gene associated with autosomal recessive phenotype 30 NCBIGene:84131 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84131 MONDO:0700096 No evidence available 0 true NCBIGene:10205 biolink:gene_associated_with_condition MONDO:0029142 infores:ubergraph knowledge_assertion manual_agent HGNC:3496 MONDO:0029142 NCBIGene:81570 biolink:gene_associated_with_condition MONDO:0859237 infores:ubergraph knowledge_assertion manual_agent HGNC:30664 MONDO:0859237 NCBIGene:729991 biolink:gene_associated_with_condition MONDO:0975837 infores:ubergraph knowledge_assertion manual_agent HGNC:37247 MONDO:0975837 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0100061 infores:clingen HGNC:9462 MONDO:0100061 Definitive 2020-02-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9416f6e2-8de3-48b0-9a1c-9bd11a59315c-2020-02-14T170000.000Z XL X-linked 0001417 NCBIGene:9626 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9626 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:130733 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:130733 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:84172 biolink:gene_associated_with_condition MONDO:0030067 infores:clingen HGNC:20454 MONDO:0030067 Moderate 2023-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32b5efdc-cdc9-4331-9b36-f9d730070818-2023-02-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:389207 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:31673 MONDO:0019497 Definitive 2018-04-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4becaf23-4b72-4dd1-a5aa-4deccbb394ea-2018-04-24T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3040 biolink:gene_associated_with_condition MONDO:0020459 infores:clingen HGNC:4824 MONDO:0020459 Limited 2024-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9ad31fe-ded5-4f1f-a8b4-f2d9a8e47b35-2024-02-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5426 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5426 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:7252 biolink:gene_associated_with_condition MONDO:0010139 infores:ubergraph knowledge_assertion manual_agent HGNC:12372 MONDO:0010139 NCBIGene:5095 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5095 MONDO:0700096 No evidence available 0 true NCBIGene:57214 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:29213 MONDO:0019497 Disputed 2018-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27d840d2-1f58-4d1c-9f6e-307db9f41b60-2018-07-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1299 biolink:gene_associated_with_condition MONDO:0019354 infores:clingen HGNC:2219 MONDO:0019354 Definitive 2022-12-21T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a436c41e-0873-4e4c-b2f2-d56f75ca737a-2022-12-21T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0007552 infores:ubergraph knowledge_assertion manual_agent HGNC:2214 MONDO:0007552 NCBIGene:60509 biolink:gene_associated_with_condition MONDO:0014871 infores:ubergraph knowledge_assertion manual_agent HGNC:26147 MONDO:0014871 NCBIGene:5077 biolink:gene_associated_with_condition MONDO:0007862 infores:ubergraph knowledge_assertion manual_agent HGNC:8617 MONDO:0007862 NCBIGene:51729 biolink:gene_associated_with_condition MONDO:0030987 infores:ubergraph knowledge_assertion manual_agent HGNC:16461 MONDO:0030987 NCBIGene:3861 biolink:gene_associated_with_condition MONDO:0007554 infores:ubergraph knowledge_assertion manual_agent HGNC:6416 MONDO:0007554 NCBIGene:84225 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84225 MONDO:0700096 No evidence available 0 true NCBIGene:51259 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51259 MONDO:0700096 No evidence available 0 true NCBIGene:10413 biolink:gene_associated_with_condition MONDO:0007355 infores:ubergraph knowledge_assertion manual_agent HGNC:16262 MONDO:0007355 NCBIGene:22926 biolink:gene_associated_with_condition MONDO:0100447 infores:clingen HGNC:791 MONDO:0100447 Definitive 2021-10-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_649d690a-8457-4c95-8d27-978daf4ac877-2021-10-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1293 biolink:gene_associated_with_condition MONDO:0958234 infores:ubergraph knowledge_assertion manual_agent HGNC:2213 MONDO:0958234 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007987 infores:clingen HGNC:2200 MONDO:0007987 Definitive 2021-12-15T18:35:42.376Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25a49ec9-69ab-4e51-a13a-fe1eaa50ae56-2021-12-15T183542.376Z AD Autosomal Dominant 0000006 NCBIGene:9382 biolink:gene_associated_with_condition MONDO:0012637 infores:ubergraph knowledge_assertion manual_agent HGNC:6545 MONDO:0012637 NCBIGene:22930 biolink:gene_associated_with_condition MONDO:0010822 infores:ubergraph knowledge_assertion manual_agent HGNC:17063 MONDO:0010822 NCBIGene:1213 biolink:gene_associated_with_condition MONDO:0030922 infores:ubergraph knowledge_assertion manual_agent HGNC:2092 MONDO:0030922 NCBIGene:5172 biolink:gene_associated_with_condition MONDO:0010134 infores:ubergraph knowledge_assertion manual_agent HGNC:8818 MONDO:0010134 NCBIGene:1742 biolink:gene_associated_with_condition MONDO:0032919 infores:ubergraph knowledge_assertion manual_agent HGNC:2903 MONDO:0032919 NCBIGene:9853 biolink:gene_associated_with_condition MONDO:0030915 infores:ubergraph knowledge_assertion manual_agent HGNC:23625 MONDO:0030915 NCBIGene:3899 biolink:gene_associated_with_condition MONDO:0851095 infores:ubergraph knowledge_assertion manual_agent HGNC:6473 MONDO:0851095 NCBIGene:825 biolink:gene_associated_with_condition MONDO:0009675 infores:clingen NCBIGene:825 MONDO:0009675 Gene associated with autosomal recessive phenotype 30 NCBIGene:729230 biolink:gene_associated_with_condition MONDO:0009060 infores:ubergraph knowledge_assertion manual_agent HGNC:1603 MONDO:0009060 NCBIGene:7358 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:12525 MONDO:0005453 Disputed 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecce1706-83f5-4a2e-8f15-3a2207972a69-2024-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9935 biolink:gene_associated_with_condition MONDO:0008152 infores:ubergraph knowledge_assertion manual_agent HGNC:6408 MONDO:0008152 NCBIGene:220074 biolink:gene_associated_with_condition MONDO:0012670 infores:ubergraph knowledge_assertion manual_agent HGNC:25033 MONDO:0012670 NCBIGene:1182 biolink:gene_associated_with_condition MONDO:0859187 infores:ubergraph knowledge_assertion manual_agent HGNC:2021 MONDO:0859187 NCBIGene:4536 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7456 MONDO:0044970 Moderate 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce38deed-d954-4e68-aed1-ede90e274a2c-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:1187 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1187 MONDO:0700096 No evidence available 0 true NCBIGene:5605 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:6842 MONDO:0018997 Limited 2018-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a0eeefd-9105-435d-9daf-c748e52b0941-2018-06-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2159 biolink:gene_associated_with_condition MONDO:0009212 infores:clingen NCBIGene:2159 MONDO:0009212 Definitive 2019-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4adcc848-b354-4975-801f-4b55bbca64ad-2019-11-27T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6521 biolink:gene_associated_with_condition MONDO:0012700 infores:ubergraph knowledge_assertion manual_agent HGNC:11027 MONDO:0012700 NCBIGene:3187 biolink:gene_associated_with_condition MONDO:0859301 infores:ubergraph knowledge_assertion manual_agent HGNC:5041 MONDO:0859301 NCBIGene:975 biolink:gene_associated_with_condition MONDO:0013286 infores:ubergraph knowledge_assertion manual_agent HGNC:1701 MONDO:0013286 NCBIGene:9851 biolink:gene_associated_with_condition MONDO:0014932 infores:ubergraph knowledge_assertion manual_agent HGNC:29110 MONDO:0014932 NCBIGene:25961 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25961 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:2324 biolink:gene_associated_with_condition MONDO:0032913 infores:clingen HGNC:3767 MONDO:0032913 Definitive 2023-03-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03e5cbf0-2888-4416-bb0f-85909fc297ce-2023-03-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:54664 biolink:gene_associated_with_condition MONDO:0054791 infores:ubergraph knowledge_assertion manual_agent HGNC:22407 MONDO:0054791 NCBIGene:2187 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2187 MONDO:0700096 No evidence available 0 true NCBIGene:1591 biolink:gene_associated_with_condition MONDO:0020739 infores:ubergraph knowledge_assertion manual_agent HGNC:2602 MONDO:0020739 NCBIGene:55750 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55750 MONDO:0700096 No evidence available 0 true NCBIGene:738 biolink:gene_associated_with_condition MONDO:0032831 infores:ubergraph knowledge_assertion manual_agent HGNC:1172 MONDO:0032831 NCBIGene:284111 biolink:gene_associated_with_condition MONDO:0014392 infores:ubergraph knowledge_assertion manual_agent HGNC:23089 MONDO:0014392 NCBIGene:57010 biolink:gene_associated_with_condition MONDO:0012490 infores:clingen NCBIGene:57010 MONDO:0012490 Gene associated with autosomal recessive phenotype 30 NCBIGene:8091 biolink:gene_associated_with_condition MONDO:0020795 infores:ubergraph knowledge_assertion manual_agent HGNC:5009 MONDO:0020795 NCBIGene:1286 biolink:gene_associated_with_condition MONDO:0007709 infores:ubergraph knowledge_assertion manual_agent HGNC:2206 MONDO:0007709 NCBIGene:3769 biolink:gene_associated_with_condition MONDO:0008663 infores:ubergraph knowledge_assertion manual_agent HGNC:6259 MONDO:0008663 NCBIGene:554 biolink:gene_associated_with_condition MONDO:0010356 infores:ubergraph knowledge_assertion manual_agent HGNC:897 MONDO:0010356 NCBIGene:5994 biolink:gene_associated_with_condition MONDO:0008855 infores:clingen HGNC:9988 MONDO:0008855 Definitive 2023-06-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53b17c5d-ccea-4674-8746-a2bc39ad95f0-2023-06-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6334 biolink:gene_associated_with_condition MONDO:0100092 infores:ubergraph knowledge_assertion manual_agent HGNC:10596 MONDO:0100092 NCBIGene:2562 biolink:gene_associated_with_condition MONDO:0014921 infores:ubergraph knowledge_assertion manual_agent HGNC:4083 MONDO:0014921 NCBIGene:8600 biolink:gene_associated_with_condition MONDO:0009816 infores:ubergraph knowledge_assertion manual_agent HGNC:11926 MONDO:0009816 NCBIGene:50945 biolink:gene_associated_with_condition MONDO:0010560 infores:clingen NCBIGene:50945 MONDO:0010560 Definitive 2024-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7700e51-c293-487b-a06a-1392fb1b6209-2024-09-19T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3949 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3949 MONDO:0700096 No evidence available 0 true NCBIGene:2893 biolink:gene_associated_with_condition MONDO:0060641 infores:clingen HGNC:4574 MONDO:0060641 Moderate 2024-07-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c6e2c49-e537-4eec-8b85-aef0c6651d55-2024-07-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:19 biolink:gene_associated_with_condition MONDO:0008783 infores:ubergraph knowledge_assertion manual_agent HGNC:29 MONDO:0008783 NCBIGene:3098 biolink:gene_associated_with_condition MONDO:0044320 infores:ubergraph knowledge_assertion manual_agent HGNC:4922 MONDO:0044320 NCBIGene:114327 biolink:gene_associated_with_condition MONDO:0020772 infores:ubergraph knowledge_assertion manual_agent HGNC:16406 MONDO:0020772 NCBIGene:4574 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7497 MONDO:0044970 Definitive 2023-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6647b8f-3d8a-4a6f-b54d-383a33fc9828-2023-01-19T170000.000Z MT Mitochondrial 0001427 NCBIGene:6949 biolink:gene_associated_with_condition MONDO:0007944 infores:ubergraph knowledge_assertion manual_agent HGNC:11654 MONDO:0007944 NCBIGene:80726 biolink:gene_associated_with_condition MONDO:0859338 infores:ubergraph knowledge_assertion manual_agent HGNC:29350 MONDO:0859338 NCBIGene:60678 biolink:gene_associated_with_condition MONDO:0976233 infores:ubergraph knowledge_assertion manual_agent HGNC:24614 MONDO:0976233 NCBIGene:9772 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9772 MONDO:0700096 No evidence available 0 true NCBIGene:26278 biolink:gene_associated_with_condition MONDO:0010041 infores:ubergraph knowledge_assertion manual_agent HGNC:10519 MONDO:0010041 NCBIGene:7051 biolink:gene_associated_with_condition MONDO:0009441 infores:ubergraph knowledge_assertion manual_agent HGNC:11777 MONDO:0009441 NCBIGene:118987 biolink:gene_associated_with_condition MONDO:0859281 infores:ubergraph knowledge_assertion manual_agent HGNC:26974 MONDO:0859281 NCBIGene:85358 biolink:gene_associated_with_condition MONDO:0971069 infores:ubergraph knowledge_assertion manual_agent HGNC:14294 MONDO:0971069 NCBIGene:23028 biolink:gene_associated_with_condition MONDO:0700299 infores:ubergraph knowledge_assertion manual_agent HGNC:29079 MONDO:0700299 NCBIGene:64837 biolink:gene_associated_with_condition MONDO:0012297 infores:ubergraph knowledge_assertion manual_agent HGNC:20716 MONDO:0012297 NCBIGene:3198 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:5099 MONDO:0000508 Definitive 2019-06-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e0e605f-c82a-4e34-b913-8dc6b72b4881-2019-06-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9897 biolink:gene_associated_with_condition MONDO:0011339 infores:ubergraph knowledge_assertion manual_agent HGNC:28984 MONDO:0011339 NCBIGene:2203 biolink:gene_associated_with_condition MONDO:0009251 infores:ubergraph knowledge_assertion manual_agent HGNC:3606 MONDO:0009251 NCBIGene:6569 biolink:gene_associated_with_condition MONDO:0013247 infores:ubergraph knowledge_assertion manual_agent HGNC:11019 MONDO:0013247 NCBIGene:220 biolink:gene_associated_with_condition MONDO:0014050 infores:clingen NCBIGene:220 MONDO:0014050 Gene associated with autosomal recessive phenotype 30 NCBIGene:1811 biolink:gene_associated_with_condition MONDO:0008964 infores:ubergraph knowledge_assertion manual_agent HGNC:3018 MONDO:0008964 NCBIGene:57531 biolink:gene_associated_with_condition MONDO:0014764 infores:ubergraph knowledge_assertion manual_agent HGNC:21033 MONDO:0014764 NCBIGene:10083 biolink:gene_associated_with_condition MONDO:0011192 infores:ubergraph knowledge_assertion manual_agent HGNC:12597 MONDO:0011192 NCBIGene:343637 biolink:gene_associated_with_condition MONDO:0008798 infores:clingen NCBIGene:343637 MONDO:0008798 Gene associated with autosomal recessive phenotype 30 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0008679 infores:clingen NCBIGene:7490 MONDO:0008679 Definitive 2020-07-30T20:55:01.047Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65010002-ff97-4dc0-a89f-6c77abf0982a-2020-07-30T205501.047Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:164656 biolink:gene_associated_with_condition MONDO:0008788 infores:clingen NCBIGene:164656 MONDO:0008788 Definitive 2025-08-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_566f2e6c-d7dc-4ad2-a44d-b7c46b51d98a-2025-08-27T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:197131 biolink:gene_associated_with_condition MONDO:0009479 infores:clingen NCBIGene:197131 MONDO:0009479 Gene associated with autosomal recessive phenotype 30 NCBIGene:4976 biolink:gene_associated_with_condition MONDO:0800181 infores:clingen HGNC:8140 MONDO:0800181 Definitive 2022-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc3f3ec8-0394-4732-bb4b-d75aaa5bdbcb-2022-11-17T170000.000Z SD Semidominant 0032113 NCBIGene:56521 biolink:gene_associated_with_condition MONDO:0044304 infores:ubergraph knowledge_assertion manual_agent HGNC:28908 MONDO:0044304 NCBIGene:4166 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4166 MONDO:0700096 No evidence available 0 true NCBIGene:5393 biolink:gene_associated_with_condition MONDO:0054844 infores:ubergraph knowledge_assertion manual_agent HGNC:9137 MONDO:0054844 NCBIGene:84942 biolink:gene_associated_with_condition MONDO:0033005 infores:ubergraph knowledge_assertion manual_agent HGNC:25928 MONDO:0033005 NCBIGene:64699 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64699 MONDO:0700096 No evidence available 0 true NCBIGene:8517 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8517 MONDO:0700096 No evidence available 0 true NCBIGene:64699 biolink:gene_associated_with_condition MONDO:0010987 infores:clingen NCBIGene:64699 MONDO:0010987 Gene associated with autosomal recessive phenotype 30 NCBIGene:4306 biolink:gene_associated_with_condition MONDO:0011517 infores:ubergraph knowledge_assertion manual_agent HGNC:7979 MONDO:0011517 NCBIGene:4669 biolink:gene_associated_with_condition MONDO:0009656 infores:clingen HGNC:7632 MONDO:0009656 Definitive 2022-08-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ee5629a-f6c2-4187-a802-d570f7180478-2022-08-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:114798 biolink:gene_associated_with_condition MONDO:0013189 infores:ubergraph knowledge_assertion manual_agent HGNC:20297 MONDO:0013189 NCBIGene:64240 biolink:gene_associated_with_condition MONDO:0020747 infores:clingen NCBIGene:64240 MONDO:0020747 Gene associated with autosomal recessive phenotype 30 NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91147 MONDO:0700096 No evidence available 0 true NCBIGene:79228 biolink:gene_associated_with_condition MONDO:0013362 infores:clingen HGNC:28369 MONDO:0013362 Definitive 2024-03-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db4039ce-b9e7-40ba-ac45-a622bb75b803-2024-03-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:22856 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22856 MONDO:0700096 No evidence available 0 true NCBIGene:9517 biolink:gene_associated_with_condition MONDO:0013337 infores:ubergraph knowledge_assertion manual_agent HGNC:11278 MONDO:0013337 NCBIGene:5518 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5518 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:25782 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25782 MONDO:0700096 No evidence available 0 true NCBIGene:221927 biolink:gene_associated_with_condition MONDO:0020841 infores:clingen HGNC:21701 MONDO:0020841 Definitive 2022-09-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93a7b6f1-75e5-4f97-be9d-62fb5770b8cb-2022-09-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10758 biolink:gene_associated_with_condition MONDO:0013554 infores:ubergraph knowledge_assertion manual_agent HGNC:1343 MONDO:0013554 NCBIGene:4693 biolink:gene_associated_with_condition MONDO:0010691 infores:clingen NCBIGene:4693 MONDO:0010691 Definitive 2018-03-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_335ce5aa-7f87-4b91-a447-928399f40f11-2018-03-21T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0010569 infores:ubergraph knowledge_assertion manual_agent HGNC:6470 MONDO:0010569 NCBIGene:128486 biolink:gene_associated_with_condition MONDO:0032842 infores:ubergraph knowledge_assertion manual_agent HGNC:16135 MONDO:0032842 NCBIGene:156 biolink:gene_associated_with_condition MONDO:0100583 infores:ubergraph knowledge_assertion manual_agent HGNC:289 MONDO:0100583 NCBIGene:57520 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:29853 MONDO:0100038 Definitive 2023-01-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_191cff25-f54c-4628-87f6-13a5daaec847-2023-01-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84433 biolink:gene_associated_with_condition MONDO:0014081 infores:ubergraph knowledge_assertion manual_agent HGNC:16393 MONDO:0014081 NCBIGene:70 biolink:gene_associated_with_condition MONDO:0012799 infores:ubergraph knowledge_assertion manual_agent HGNC:143 MONDO:0012799 NCBIGene:60495 biolink:gene_associated_with_condition MONDO:0009368 infores:clingen NCBIGene:60495 MONDO:0009368 Gene associated with autosomal recessive phenotype 30 NCBIGene:1908 biolink:gene_associated_with_condition MONDO:0013384 infores:ubergraph knowledge_assertion manual_agent HGNC:3178 MONDO:0013384 NCBIGene:9338 biolink:gene_associated_with_condition MONDO:0859085 infores:ubergraph knowledge_assertion manual_agent HGNC:11616 MONDO:0859085 NCBIGene:6731 biolink:gene_associated_with_condition MONDO:0013851 infores:ubergraph knowledge_assertion manual_agent HGNC:11303 MONDO:0013851 NCBIGene:83700 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83700 MONDO:0700096 No evidence available 0 true NCBIGene:23236 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:15917 MONDO:0100062 Definitive 2020-09-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7887c3b-332b-4586-93cf-4098796ab66f-2020-09-18T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:2232 biolink:gene_associated_with_condition MONDO:1060116 infores:ubergraph knowledge_assertion manual_agent HGNC:3642 MONDO:1060116 NCBIGene:4087 biolink:gene_associated_with_condition MONDO:0030500 infores:clingen HGNC:6768 MONDO:0030500 Definitive 2025-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c32835d3-af61-4b05-902c-d17b406beef6-2025-08-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:412 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:412 MONDO:0700096 No evidence available 0 true NCBIGene:26284 biolink:gene_associated_with_condition MONDO:0033047 infores:ubergraph knowledge_assertion manual_agent HGNC:3424 MONDO:0033047 NCBIGene:3848 biolink:gene_associated_with_condition MONDO:0011881 infores:ubergraph knowledge_assertion manual_agent HGNC:6412 MONDO:0011881 NCBIGene:9731 biolink:gene_associated_with_condition MONDO:0014770 infores:ubergraph knowledge_assertion manual_agent HGNC:24866 MONDO:0014770 NCBIGene:79903 biolink:gene_associated_with_condition MONDO:0968977 infores:ubergraph knowledge_assertion manual_agent HGNC:25875 MONDO:0968977 NCBIGene:129880 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:129880 MONDO:0700096 No evidence available 0 true NCBIGene:443 biolink:gene_associated_with_condition MONDO:0010079 infores:ubergraph knowledge_assertion manual_agent HGNC:756 MONDO:0010079 NCBIGene:27133 biolink:gene_associated_with_condition MONDO:0957812 infores:ubergraph knowledge_assertion manual_agent HGNC:6254 MONDO:0957812 NCBIGene:246213 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:246213 MONDO:0700096 No evidence available 0 true NCBIGene:9228 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9228 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7503 biolink:gene_associated_with_condition MONDO:0026404 infores:ubergraph knowledge_assertion manual_agent HGNC:12810 MONDO:0026404 NCBIGene:57096 biolink:gene_associated_with_condition MONDO:0013446 infores:ubergraph knowledge_assertion manual_agent HGNC:13436 MONDO:0013446 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0008082 infores:clingen HGNC:9967 MONDO:0008082 Definitive 2020-05-14T01:03:45.543Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e4425f0-0900-43c3-aac4-5b37554be386-2020-05-14T010345.543Z AD Autosomal Dominant 0000006 NCBIGene:11322 biolink:gene_associated_with_condition MONDO:0009176 infores:clingen NCBIGene:11322 MONDO:0009176 Gene associated with autosomal recessive phenotype 30 NCBIGene:9759 biolink:gene_associated_with_condition MONDO:0010886 infores:clingen NCBIGene:9759 MONDO:0010886 true Little evidence for dosage pathogenicity 1 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0007354 infores:ubergraph knowledge_assertion manual_agent HGNC:8620 MONDO:0007354 NCBIGene:567 biolink:gene_associated_with_condition MONDO:0009434 infores:ubergraph knowledge_assertion manual_agent HGNC:914 MONDO:0009434 NCBIGene:6943 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:11632 MONDO:0005453 No Known Disease Relationship 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34077807-a187-4e2c-b06b-8510fd6e5788-2024-06-10T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:80184 biolink:gene_associated_with_condition MONDO:0100451 infores:clingen HGNC:29021 MONDO:0100451 Definitive 2022-02-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec24317e-70bc-48a0-999b-f960f951e8dd-2022-02-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5530 biolink:gene_associated_with_condition MONDO:0020630 infores:ubergraph knowledge_assertion manual_agent HGNC:9314 MONDO:0020630 NCBIGene:9895 biolink:gene_associated_with_condition MONDO:0014016 infores:ubergraph knowledge_assertion manual_agent HGNC:19957 MONDO:0014016 NCBIGene:644 biolink:gene_associated_with_condition MONDO:0013595 infores:ubergraph knowledge_assertion manual_agent HGNC:1062 MONDO:0013595 NCBIGene:4867 biolink:gene_associated_with_condition MONDO:0009962 infores:ubergraph knowledge_assertion manual_agent HGNC:7905 MONDO:0009962 NCBIGene:2244 biolink:gene_associated_with_condition MONDO:0018060 infores:clingen HGNC:3662 MONDO:0018060 Definitive 2020-01-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_638c1588-9674-4bc3-a39c-2fc8f8b0ef09-2020-01-22T170000.000Z SD Semidominant 0032113 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0008516 infores:ubergraph knowledge_assertion manual_agent HGNC:5136 MONDO:0008516 NCBIGene:4613 biolink:gene_associated_with_condition MONDO:0008115 infores:ubergraph knowledge_assertion manual_agent HGNC:7559 MONDO:0008115 NCBIGene:8573 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:1497 MONDO:0020119 Definitive 2019-07-09T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca0e703c-3fe1-44a1-8632-036554b2f158-2019-07-09T100000.000Z XL X-linked 0001417 NCBIGene:2652 biolink:gene_associated_with_condition MONDO:0010564 infores:ubergraph knowledge_assertion manual_agent HGNC:4206 MONDO:0010564 NCBIGene:246243 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:18466 MONDO:0009723 Limited 2021-01-14T21:38:24.328Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcf8b7a4-7bd5-45fe-824c-6a90825620f7-2021-01-14T213824.328Z AR Autosomal Recessive 0000007 NCBIGene:4088 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:6769 MONDO:0019625 Definitive 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8253 AD Autosomal Dominant 0000006 NCBIGene:2539 biolink:gene_associated_with_condition MONDO:0005775 infores:ubergraph knowledge_assertion manual_agent HGNC:4057 MONDO:0005775 NCBIGene:9197 biolink:gene_associated_with_condition MONDO:0012928 infores:ubergraph knowledge_assertion manual_agent HGNC:95 MONDO:0012928 NCBIGene:5426 biolink:gene_associated_with_condition MONDO:0014058 infores:ubergraph knowledge_assertion manual_agent HGNC:9177 MONDO:0014058 NCBIGene:54539 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20372 MONDO:0044970 Definitive 2022-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b349c412-dba4-4b4d-91ba-47d72f8f910f-2022-01-20T170000.000Z XL X-linked 0001417 NCBIGene:80025 biolink:gene_associated_with_condition MONDO:0009319 infores:ubergraph knowledge_assertion manual_agent HGNC:15894 MONDO:0009319 NCBIGene:55214 biolink:gene_associated_with_condition MONDO:0013670 infores:ubergraph knowledge_assertion manual_agent HGNC:19317 MONDO:0013670 NCBIGene:283459 biolink:gene_associated_with_condition MONDO:0030008 infores:ubergraph knowledge_assertion manual_agent HGNC:25068 MONDO:0030008 NCBIGene:92579 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:92579 MONDO:0700096 No evidence available 0 true NCBIGene:1495 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:2509 MONDO:0018630 No Known Disease Relationship 2017-04-24T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9868 AD Autosomal Dominant 0000006 NCBIGene:79868 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79868 MONDO:0700096 No evidence available 0 true NCBIGene:8517 biolink:gene_associated_with_condition MONDO:0010631 infores:ubergraph knowledge_assertion manual_agent HGNC:5961 MONDO:0010631 NCBIGene:10682 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10682 MONDO:0700096 No evidence available 0 true NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0014470 infores:ubergraph knowledge_assertion manual_agent HGNC:29203 MONDO:0014470 NCBIGene:221711 biolink:gene_associated_with_condition MONDO:0970995 infores:ubergraph knowledge_assertion manual_agent HGNC:21537 MONDO:0970995 NCBIGene:974 biolink:gene_associated_with_condition MONDO:0012987 infores:clingen HGNC:1699 MONDO:0012987 Definitive 2021-01-26T17:10:06.440Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c252b2c-2183-4e7d-8ceb-69f7a01cc1d9-2021-01-26T171006.440Z AR Autosomal Recessive 0000007 NCBIGene:84197 biolink:gene_associated_with_condition MONDO:0014101 infores:ubergraph knowledge_assertion manual_agent HGNC:26267 MONDO:0014101 NCBIGene:1756 biolink:gene_associated_with_condition MONDO:0016106 infores:clingen HGNC:2928 MONDO:0016106 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b528435f-dc16-45e0-9f0f-2da3f293ab4c-2024-11-14T170000.000Z XL X-linked 0001417 NCBIGene:112752 biolink:gene_associated_with_condition MONDO:0013573 infores:ubergraph knowledge_assertion manual_agent HGNC:29669 MONDO:0013573 NCBIGene:10166 biolink:gene_associated_with_condition MONDO:0009393 infores:clingen HGNC:10985 MONDO:0009393 Definitive 2019-12-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5cb32c9-d506-484f-b023-1c4f17ef0d93-2019-12-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2658 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:4217 MONDO:0015924 Definitive 2022-05-26T22:15:14.154Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d2e83fa-0af1-450f-af9c-5c61d4bc3106-2022-05-26T221514.154Z AD Autosomal Dominant 0000006 NCBIGene:7284 biolink:gene_associated_with_condition MONDO:0012534 infores:clingen NCBIGene:7284 MONDO:0012534 Gene associated with autosomal recessive phenotype 30 NCBIGene:196385 biolink:gene_associated_with_condition MONDO:0030430 infores:ubergraph knowledge_assertion manual_agent HGNC:2941 MONDO:0030430 NCBIGene:3572 biolink:gene_associated_with_condition MONDO:0030756 infores:ubergraph knowledge_assertion manual_agent HGNC:6021 MONDO:0030756 NCBIGene:3190 biolink:gene_associated_with_condition MONDO:0014700 infores:ubergraph knowledge_assertion manual_agent HGNC:5044 MONDO:0014700 NCBIGene:1116 biolink:gene_associated_with_condition MONDO:0012771 infores:ubergraph knowledge_assertion manual_agent HGNC:1932 MONDO:0012771 NCBIGene:26580 biolink:gene_associated_with_condition MONDO:0006573 infores:clingen HGNC:15832 MONDO:0006573 Definitive 2024-11-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6b2f631-aedd-4396-8170-a1878ccac459-2024-11-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2562 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2562 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9409 biolink:gene_associated_with_condition MONDO:0100269 infores:ubergraph knowledge_assertion manual_agent HGNC:8857 MONDO:0100269 NCBIGene:4726 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7713 MONDO:0044970 Definitive 2022-01-31T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04cdc50a-1ce4-410e-88bb-9d75ed33bb46-2022-01-31T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:629 biolink:gene_associated_with_condition MONDO:0013892 infores:clingen HGNC:1037 MONDO:0013892 Limited 2024-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58e4da7f-d0a0-4283-9780-abc69d7fddce-2024-11-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8496 biolink:gene_associated_with_condition MONDO:0859283 infores:ubergraph knowledge_assertion manual_agent HGNC:9249 MONDO:0859283 NCBIGene:80208 biolink:gene_associated_with_condition MONDO:0011196 infores:ubergraph knowledge_assertion manual_agent HGNC:11226 MONDO:0011196 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0012320 infores:ubergraph knowledge_assertion manual_agent HGNC:10585 MONDO:0012320 NCBIGene:27022 biolink:gene_associated_with_condition MONDO:0019172 infores:clingen HGNC:3804 MONDO:0019172 Disputed 2022-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4b3b44d-26d8-4519-9d0d-2259022e79c6-2022-12-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:291 biolink:gene_associated_with_condition MONDO:0012238 infores:ubergraph knowledge_assertion manual_agent HGNC:10990 MONDO:0012238 NCBIGene:7840 biolink:gene_associated_with_condition MONDO:0008763 infores:ubergraph knowledge_assertion manual_agent HGNC:428 MONDO:0008763 NCBIGene:255738 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:255738 MONDO:0700096 No evidence available 0 true NCBIGene:1859 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:3091 MONDO:0100038 Definitive 2020-07-15T19:58:02.528Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b336707e-f3a5-4554-9b37-0d29621b3562-2020-07-15T195802.528Z AD Autosomal Dominant 0000006 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007412 infores:clingen HGNC:3689 MONDO:0007412 Definitive 2022-03-31T16:37:11.748Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7805e806-44ee-4339-a078-d62c204bff00-2022-03-31T163711.748Z AD Autosomal Dominant 0000006 NCBIGene:112752 biolink:gene_associated_with_condition MONDO:0036483 infores:ubergraph knowledge_assertion manual_agent HGNC:29669 MONDO:0036483 NCBIGene:11315 biolink:gene_associated_with_condition MONDO:0011658 infores:clingen NCBIGene:11315 MONDO:0011658 Gene associated with autosomal recessive phenotype 30 NCBIGene:3988 biolink:gene_associated_with_condition MONDO:0800449 infores:clingen NCBIGene:3988 MONDO:0800449 Definitive 2023-04-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1691be18-3aa2-46e7-b6a6-e7acafb9f998-2023-04-28T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:114907 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:16731 MONDO:0005021 Limited 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f006b4e-08a3-403c-86dd-704f741494fe-2025-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7547 biolink:gene_associated_with_condition MONDO:0010607 infores:clingen NCBIGene:7547 MONDO:0010607 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6599 biolink:gene_associated_with_condition MONDO:0700123 infores:clingen HGNC:11104 MONDO:0700123 Definitive 2023-04-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb13d681-db77-4219-93ce-a9eefbd2839c-2023-04-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3861 biolink:gene_associated_with_condition MONDO:0007445 infores:ubergraph knowledge_assertion manual_agent HGNC:6416 MONDO:0007445 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010297 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010297 NCBIGene:2108 biolink:gene_associated_with_condition MONDO:0700073 infores:ubergraph knowledge_assertion manual_agent HGNC:3481 MONDO:0700073 NCBIGene:8557 biolink:gene_associated_with_condition MONDO:0016192 infores:ubergraph knowledge_assertion manual_agent HGNC:11610 MONDO:0016192 NCBIGene:5294 biolink:gene_associated_with_condition MONDO:0030717 infores:ubergraph knowledge_assertion manual_agent HGNC:8978 MONDO:0030717 NCBIGene:2182 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:3571 MONDO:0019181 Definitive 2023-01-10T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4da722c-f7fc-4dc4-ad19-1d1b023d488f-2023-01-10T190000.000Z XL X-linked 0001417 NCBIGene:191 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:191 MONDO:0700096 No evidence available 0 true NCBIGene:6521 biolink:gene_associated_with_condition MONDO:0008494 infores:ubergraph knowledge_assertion manual_agent HGNC:11027 MONDO:0008494 NCBIGene:2784 biolink:gene_associated_with_condition MONDO:0014872 infores:ubergraph knowledge_assertion manual_agent HGNC:4400 MONDO:0014872 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0012544 infores:ubergraph knowledge_assertion manual_agent HGNC:5136 MONDO:0012544 NCBIGene:1136 biolink:gene_associated_with_condition MONDO:0008630 infores:ubergraph knowledge_assertion manual_agent HGNC:1957 MONDO:0008630 NCBIGene:4720 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7708 MONDO:0044970 Definitive 2024-01-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3546f79c-056b-4087-88f0-99e97ad1bd4b-2024-01-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2195 biolink:gene_associated_with_condition MONDO:0100313 infores:clingen HGNC:3595 MONDO:0100313 Strong 2023-11-13T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dbbe3f1-4a7a-4c76-b047-1c1d95771b74-2023-11-13T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:23400 biolink:gene_associated_with_condition MONDO:0014975 infores:ubergraph knowledge_assertion manual_agent HGNC:30213 MONDO:0014975 NCBIGene:81693 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:81693 MONDO:0700096 No evidence available 0 true NCBIGene:1410 biolink:gene_associated_with_condition MONDO:0013411 infores:ubergraph knowledge_assertion manual_agent HGNC:2389 MONDO:0013411 NCBIGene:8456 biolink:gene_associated_with_condition MONDO:0032928 infores:ubergraph knowledge_assertion manual_agent HGNC:12765 MONDO:0032928 NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:10484 MONDO:0005045 Limited 2022-12-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ac9dd09-674f-4d67-94da-234ffb4e5070-2022-12-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10518 biolink:gene_associated_with_condition MONDO:0010168 infores:clingen HGNC:24579 MONDO:0010168 Refuted 2019-02-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95709038-78a4-4043-a054-9cbe245d2588-2019-02-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0800145 infores:clingen HGNC:9175 MONDO:0800145 Limited 2023-02-16T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73065a32-62bc-4cde-8131-f8f44c09a74f-2023-02-16T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:7545 biolink:gene_associated_with_condition MONDO:0032892 infores:ubergraph knowledge_assertion manual_agent HGNC:12872 MONDO:0032892 NCBIGene:4720 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7708 MONDO:0009723 Definitive 2021-04-09T14:31:44.546Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6df726c1-2897-46f8-aed1-f9939b9acf0c-2021-04-09T143144.546Z AR Autosomal Recessive 0000007 NCBIGene:6742 biolink:gene_associated_with_condition MONDO:0008135 infores:clingen HGNC:11317 MONDO:0008135 Strong 2021-05-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51701b05-3956-4d7b-adc7-7ba4192e8283-2021-05-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2746 biolink:gene_associated_with_condition MONDO:0011717 infores:clingen HGNC:4335 MONDO:0011717 Definitive 2020-11-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_924bd593-ba5a-49a5-bb71-8224271a713b-2020-11-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:816 biolink:gene_associated_with_condition MONDO:0030920 infores:clingen NCBIGene:816 MONDO:0030920 true Little evidence for dosage pathogenicity 1 NCBIGene:2517 biolink:gene_associated_with_condition MONDO:0009254 infores:ubergraph knowledge_assertion manual_agent HGNC:4006 MONDO:0009254 NCBIGene:26160 biolink:gene_associated_with_condition MONDO:0014284 infores:ubergraph knowledge_assertion manual_agent HGNC:30391 MONDO:0014284 NCBIGene:440435 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:440435 MONDO:0700096 No evidence available 0 true NCBIGene:4522 biolink:gene_associated_with_condition MONDO:0060611 infores:ubergraph knowledge_assertion manual_agent HGNC:7432 MONDO:0060611 NCBIGene:10059 biolink:gene_associated_with_condition MONDO:0012543 infores:ubergraph knowledge_assertion manual_agent HGNC:2973 MONDO:0012543 NCBIGene:55149 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25532 MONDO:0044970 Definitive 2022-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffdfbc2d-29c5-4077-a871-940abdb27cb7-2022-08-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:60468 biolink:gene_associated_with_condition MONDO:0032723 infores:clingen HGNC:14078 MONDO:0032723 Moderate 2023-02-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2473560a-6e5c-4342-a6e2-c89e37f4cc71-2023-02-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:84957 biolink:gene_associated_with_condition MONDO:0032717 infores:ubergraph knowledge_assertion manual_agent HGNC:13764 MONDO:0032717 NCBIGene:7780 biolink:gene_associated_with_condition MONDO:0011973 infores:clingen HGNC:11013 MONDO:0011973 Definitive 2025-01-24T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4bde390-ff71-42de-949c-2ebd37f18b1a-2025-01-24T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:6121 biolink:gene_associated_with_condition MONDO:0100452 infores:clingen HGNC:10294 MONDO:0100452 Strong 2022-02-07T02:43:03.928Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a45f0ada-a32b-406e-b714-790a0cd4a6a2-2022-02-07T024303.928Z AD Autosomal Dominant 0000006 NCBIGene:1029 biolink:gene_associated_with_condition MONDO:0007964 infores:ubergraph knowledge_assertion manual_agent HGNC:1787 MONDO:0007964 NCBIGene:8884 biolink:gene_associated_with_condition MONDO:0033546 infores:ubergraph knowledge_assertion manual_agent HGNC:11041 MONDO:0033546 NCBIGene:406987 biolink:gene_associated_with_condition MONDO:0014747 infores:ubergraph knowledge_assertion manual_agent HGNC:31582 MONDO:0014747 NCBIGene:10013 biolink:gene_associated_with_condition MONDO:0010463 infores:ubergraph knowledge_assertion manual_agent HGNC:14064 MONDO:0010463 NCBIGene:10082 biolink:gene_associated_with_condition MONDO:0009779 infores:ubergraph knowledge_assertion manual_agent HGNC:4454 MONDO:0009779 NCBIGene:199699 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:26780 MONDO:0005453 Disputed 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af4ba5de-8e77-4d22-bd42-691451f37472-2024-06-10T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:3712 biolink:gene_associated_with_condition MONDO:0009475 infores:ubergraph knowledge_assertion manual_agent HGNC:6186 MONDO:0009475 NCBIGene:4567 biolink:gene_associated_with_condition MONDO:0800032 infores:ubergraph knowledge_assertion manual_agent HGNC:7490 MONDO:0800032 NCBIGene:5318 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:9024 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10156 AD Autosomal Dominant 0000006 NCBIGene:4087 biolink:gene_associated_with_condition MONDO:0859213 infores:ubergraph knowledge_assertion manual_agent HGNC:6768 MONDO:0859213 NCBIGene:8367 biolink:gene_associated_with_condition MONDO:0030993 infores:clingen HGNC:4790 MONDO:0030993 Strong 2024-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_934ff2db-b242-49d8-968f-08f8eb7b1310-2024-03-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:440435 biolink:gene_associated_with_condition MONDO:0013807 infores:clingen NCBIGene:440435 MONDO:0013807 Gene associated with autosomal recessive phenotype 30 NCBIGene:5125 biolink:gene_associated_with_condition MONDO:0100614 infores:clingen HGNC:8747 MONDO:0100614 Disputed 2025-04-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ade0db44-62b3-49b4-ab3d-63f410619b8e-2025-04-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5538 biolink:gene_associated_with_condition MONDO:0009744 infores:clingen NCBIGene:5538 MONDO:0009744 Gene associated with autosomal recessive phenotype 30 NCBIGene:23040 biolink:gene_associated_with_condition MONDO:0014678 infores:clingen NCBIGene:23040 MONDO:0014678 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7007 biolink:gene_associated_with_condition MONDO:0011102 infores:ubergraph knowledge_assertion manual_agent HGNC:11720 MONDO:0011102 NCBIGene:1021 biolink:gene_associated_with_condition MONDO:0014484 infores:clingen NCBIGene:1021 MONDO:0014484 Gene associated with autosomal recessive phenotype 30 NCBIGene:152330 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:152330 MONDO:0100038 Disputed 2024-04-06T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_716109ea-60b6-48d9-8ab7-b3883063bae0-2024-04-06T220000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:5162 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:8808 MONDO:0009723 Moderate 2021-03-11T17:28:53.362Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_133f688f-b498-4f5e-bd9b-b3406880ddd4-2021-03-11T172853.362Z AR Autosomal Recessive 0000007 NCBIGene:3745 biolink:gene_associated_with_condition MONDO:0014477 infores:ubergraph knowledge_assertion manual_agent HGNC:6231 MONDO:0014477 NCBIGene:26040 biolink:gene_associated_with_condition MONDO:0014482 infores:ubergraph knowledge_assertion manual_agent HGNC:15573 MONDO:0014482 NCBIGene:948 biolink:gene_associated_with_condition MONDO:0012031 infores:ubergraph knowledge_assertion manual_agent HGNC:1663 MONDO:0012031 NCBIGene:5792 biolink:gene_associated_with_condition MONDO:0014450 infores:ubergraph knowledge_assertion manual_agent HGNC:9670 MONDO:0014450 NCBIGene:161725 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:161725 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:84140 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84140 MONDO:0700096 No evidence available 0 true NCBIGene:2178 biolink:gene_associated_with_condition MONDO:0010953 infores:clingen NCBIGene:2178 MONDO:0010953 Definitive 2020-05-14T00:17:45.604Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6da55a6e-2cf8-499c-b842-b5a435dbff3f-2020-05-14T001745.604Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0012893 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0012893 NCBIGene:816 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:816 MONDO:0700096 No evidence available 0 true NCBIGene:9138 biolink:gene_associated_with_condition MONDO:0032763 infores:clingen HGNC:681 MONDO:0032763 Limited 2021-01-19T21:47:11.722Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9547c192-135d-48b3-a1c0-2eca5e2608c5-2021-01-19T214711.722Z AR Autosomal Recessive 0000007 NCBIGene:9217 biolink:gene_associated_with_condition MONDO:0008453 infores:ubergraph knowledge_assertion manual_agent HGNC:12649 MONDO:0008453 NCBIGene:25782 biolink:gene_associated_with_condition MONDO:0016649 infores:clingen HGNC:17168 MONDO:0016649 Definitive 2023-11-28T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a322fa3e-2985-4f60-9b4b-87f333cf9431-2023-11-28T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:2896 biolink:gene_associated_with_condition MONDO:0030923 infores:clingen HGNC:4601 MONDO:0030923 Definitive 2023-05-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e76545e6-2411-44c5-a458-99f02aa7ff44-2023-05-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84464 biolink:gene_associated_with_condition MONDO:0013499 infores:ubergraph knowledge_assertion manual_agent HGNC:23845 MONDO:0013499 NCBIGene:7086 biolink:gene_associated_with_condition MONDO:0014881 infores:ubergraph knowledge_assertion manual_agent HGNC:11834 MONDO:0014881 NCBIGene:28958 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:24990 MONDO:0044970 Limited 2022-08-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83ca0cfa-10b9-4bd5-86dd-83bef18e33dc-2022-08-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8318 biolink:gene_associated_with_condition MONDO:0014894 infores:clingen HGNC:1739 MONDO:0014894 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab0dc4e6-06ae-4f78-8393-05ac2bbb563f-2023-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:54982 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:2077 MONDO:0016295 Definitive 2020-12-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09654b45-6649-4d11-b43e-aeb6d20fb86d-2020-12-01T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:317761 biolink:gene_associated_with_condition MONDO:0030938 infores:ubergraph knowledge_assertion manual_agent HGNC:19849 MONDO:0030938 NCBIGene:9810 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:16867 MONDO:0005453 Limited 2024-04-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e47b7b7-e23d-4314-8019-468134c318d0-2024-04-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0010224 infores:ubergraph knowledge_assertion manual_agent HGNC:18060 MONDO:0010224 NCBIGene:1723 biolink:gene_associated_with_condition MONDO:0009903 infores:clingen NCBIGene:1723 MONDO:0009903 Gene associated with autosomal recessive phenotype 30 NCBIGene:7138 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7138 MONDO:0700096 No evidence available 0 true NCBIGene:1460 biolink:gene_associated_with_condition MONDO:0032889 infores:ubergraph knowledge_assertion manual_agent HGNC:2460 MONDO:0032889 NCBIGene:6736 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6736 MONDO:0700096 No evidence available 0 true NCBIGene:71 biolink:gene_associated_with_condition MONDO:0013812 infores:ubergraph knowledge_assertion manual_agent HGNC:144 MONDO:0013812 NCBIGene:5160 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5160 MONDO:0700096 No evidence available 0 true NCBIGene:6658 biolink:gene_associated_with_condition MONDO:0010252 infores:ubergraph knowledge_assertion manual_agent HGNC:11199 MONDO:0010252 NCBIGene:57704 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:18986 MONDO:0015150 Definitive 2024-05-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ecc960c-5410-4ad8-ab77-bca41145f5e2-2024-05-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1121 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1121 MONDO:0700096 No evidence available 0 true NCBIGene:5950 biolink:gene_associated_with_condition MONDO:0014635 infores:ubergraph knowledge_assertion manual_agent HGNC:9922 MONDO:0014635 NCBIGene:8493 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8493 MONDO:0700096 No evidence available 0 true NCBIGene:64207 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64207 MONDO:0700096 No evidence available 0 true NCBIGene:26123 biolink:gene_associated_with_condition MONDO:0009794 infores:ubergraph knowledge_assertion manual_agent HGNC:24519 MONDO:0009794 NCBIGene:81027 biolink:gene_associated_with_condition MONDO:0800047 infores:clingen HGNC:16257 MONDO:0800047 Definitive 2019-10-23T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf068c4-8e07-4861-8eee-8e7d9572b122-2019-10-23T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:79158 biolink:gene_associated_with_condition MONDO:0100122 infores:ubergraph knowledge_assertion manual_agent HGNC:29670 MONDO:0100122 NCBIGene:552 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen HGNC:895 MONDO:0005258 Disputed 2022-03-01T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea232de-063f-489a-b00a-8c5d11dbe43a-2022-03-01T110000.000Z UD Undetermined Mode of Inheritance NCBIGene:4014 biolink:gene_associated_with_condition MONDO:0011396 infores:ubergraph knowledge_assertion manual_agent HGNC:6663 MONDO:0011396 NCBIGene:3827 biolink:gene_associated_with_condition MONDO:0009234 infores:clingen HGNC:6383 MONDO:0009234 Definitive 2021-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dbf4bc1-b04f-4f1d-8c11-2b7998370293-2021-06-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84839 biolink:gene_associated_with_condition MONDO:0012483 infores:ubergraph knowledge_assertion manual_agent HGNC:18286 MONDO:0012483 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0100079 infores:ubergraph knowledge_assertion manual_agent HGNC:10585 MONDO:0100079 NCBIGene:1108 biolink:gene_associated_with_condition MONDO:0014946 infores:clingen NCBIGene:1108 MONDO:0014946 true Little evidence for dosage pathogenicity 1 NCBIGene:51807 biolink:gene_associated_with_condition MONDO:0030827 infores:ubergraph knowledge_assertion manual_agent HGNC:12410 MONDO:0030827 NCBIGene:123016 biolink:gene_associated_with_condition MONDO:0014436 infores:clingen NCBIGene:123016 MONDO:0014436 Gene associated with autosomal recessive phenotype 30 NCBIGene:64376 biolink:gene_associated_with_condition MONDO:0030867 infores:ubergraph knowledge_assertion manual_agent HGNC:14283 MONDO:0030867 NCBIGene:7046 biolink:gene_associated_with_condition MONDO:0012212 infores:ubergraph knowledge_assertion manual_agent HGNC:11772 MONDO:0012212 NCBIGene:2671 biolink:gene_associated_with_condition MONDO:0013116 infores:clingen NCBIGene:2671 MONDO:0013116 Gene associated with autosomal recessive phenotype 30 NCBIGene:633 biolink:gene_associated_with_condition MONDO:0010515 infores:ubergraph knowledge_assertion manual_agent HGNC:1044 MONDO:0010515 NCBIGene:631 biolink:gene_associated_with_condition MONDO:0012665 infores:ubergraph knowledge_assertion manual_agent HGNC:1040 MONDO:0012665 NCBIGene:64787 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:21296 MONDO:0019497 Moderate 2020-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0022ad7-8497-4139-94a7-2546ba482c88-2020-02-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8481 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8481 MONDO:0700096 No evidence available 0 true NCBIGene:1363 biolink:gene_associated_with_condition MONDO:0859150 infores:ubergraph knowledge_assertion manual_agent HGNC:2303 MONDO:0859150 NCBIGene:285362 biolink:gene_associated_with_condition MONDO:0010088 infores:ubergraph knowledge_assertion manual_agent HGNC:20376 MONDO:0010088 NCBIGene:119559 biolink:gene_associated_with_condition MONDO:0014261 infores:ubergraph knowledge_assertion manual_agent HGNC:16088 MONDO:0014261 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010232 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010232 NCBIGene:1130 biolink:gene_associated_with_condition MONDO:0008963 infores:ubergraph knowledge_assertion manual_agent HGNC:1968 MONDO:0008963 NCBIGene:10194 biolink:gene_associated_with_condition MONDO:0011921 infores:clingen HGNC:10669 MONDO:0011921 Limited 2024-07-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfbe0bb6-f9c6-447b-bec9-911af6a67566-2024-07-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7355 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7355 MONDO:0700096 No evidence available 0 true NCBIGene:8364 biolink:gene_associated_with_condition MONDO:0030729 infores:ubergraph knowledge_assertion manual_agent HGNC:4787 MONDO:0030729 NCBIGene:284217 biolink:gene_associated_with_condition MONDO:0014419 infores:clingen NCBIGene:284217 MONDO:0014419 Gene associated with autosomal recessive phenotype 30 NCBIGene:9774 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9774 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:55788 biolink:gene_associated_with_condition MONDO:0010183 infores:ubergraph knowledge_assertion manual_agent HGNC:23038 MONDO:0010183 NCBIGene:90268 biolink:gene_associated_with_condition MONDO:0031030 infores:ubergraph knowledge_assertion manual_agent HGNC:25118 MONDO:0031030 NCBIGene:57654 biolink:gene_associated_with_condition MONDO:0013834 infores:clingen NCBIGene:57654 MONDO:0013834 Gene associated with autosomal recessive phenotype 30 NCBIGene:4715 biolink:gene_associated_with_condition MONDO:0032628 infores:ubergraph knowledge_assertion manual_agent HGNC:7704 MONDO:0032628 NCBIGene:805 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:1445 MONDO:0002442 Definitive 2018-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86e4b783-3b60-4a1d-ab34-e61d27751ca6-2018-09-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:80155 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:80155 MONDO:0000508 Definitive 2022-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9732e0c-1306-4fb5-b1b3-873258903e75-2022-01-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5618 biolink:gene_associated_with_condition MONDO:0014250 infores:ubergraph knowledge_assertion manual_agent HGNC:9446 MONDO:0014250 NCBIGene:8910 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8910 MONDO:0700096 No evidence available 0 true NCBIGene:4038 biolink:gene_associated_with_condition MONDO:0008931 infores:clingen HGNC:6696 MONDO:0008931 Definitive 2023-04-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_725d13e2-a182-4e1e-8359-3c35a2ca46e9-2023-04-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3614 biolink:gene_associated_with_condition MONDO:1040051 infores:ubergraph knowledge_assertion manual_agent HGNC:6052 MONDO:1040051 NCBIGene:1144 biolink:gene_associated_with_condition MONDO:0014583 infores:ubergraph knowledge_assertion manual_agent HGNC:1965 MONDO:0014583 NCBIGene:4952 biolink:gene_associated_with_condition MONDO:0010645 infores:ubergraph knowledge_assertion manual_agent HGNC:8108 MONDO:0010645 NCBIGene:25981 biolink:gene_associated_with_condition MONDO:0033204 infores:clingen HGNC:2940 MONDO:0033204 Limited 2022-04-14T01:37:21.941Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a07c8b6e-a558-498b-975c-b12e96878a44-2022-04-14T013721.941Z AR Autosomal Recessive 0000007 NCBIGene:84839 biolink:gene_associated_with_condition MONDO:0859308 infores:ubergraph knowledge_assertion manual_agent HGNC:18286 MONDO:0859308 NCBIGene:8741 biolink:gene_associated_with_condition MONDO:0015517 infores:clingen HGNC:11928 MONDO:0015517 Limited 2022-09-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c181d44b-5c48-441b-95ad-b4d06572596d-2022-09-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6469 biolink:gene_associated_with_condition MONDO:0012709 infores:ubergraph knowledge_assertion manual_agent HGNC:10848 MONDO:0012709 NCBIGene:51311 biolink:gene_associated_with_condition MONDO:0024777 infores:ubergraph knowledge_assertion manual_agent HGNC:15632 MONDO:0024777 NCBIGene:54974 biolink:gene_associated_with_condition MONDO:0032923 infores:clingen HGNC:26053 MONDO:0032923 Limited 2025-09-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1568d1e-8fef-4666-80e1-7cee60e94863-2025-09-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8910 biolink:gene_associated_with_condition MONDO:0008044 infores:clingen NCBIGene:8910 MONDO:0008044 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54902 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:26006 MONDO:0044970 Definitive 2024-08-22T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbdcc236-0167-4739-a925-0812b5cca283-2024-08-22T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:388389 biolink:gene_associated_with_condition MONDO:0013854 infores:clingen NCBIGene:388389 MONDO:0013854 Definitive 2022-12-30T12:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9974aaef-9082-4bcd-b05a-28869447b5de-2022-12-30T120000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5422 biolink:gene_associated_with_condition MONDO:0010523 infores:ubergraph knowledge_assertion manual_agent HGNC:9173 MONDO:0010523 NCBIGene:128338 biolink:gene_associated_with_condition MONDO:0014669 infores:ubergraph knowledge_assertion manual_agent HGNC:28769 MONDO:0014669 NCBIGene:79796 biolink:gene_associated_with_condition MONDO:0012117 infores:ubergraph knowledge_assertion manual_agent HGNC:15672 MONDO:0012117 NCBIGene:5337 biolink:gene_associated_with_condition MONDO:1010144 infores:clingen HGNC:9067 MONDO:1010144 Definitive 2024-12-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d37e1c81-cb59-45db-9481-338149fa5064-2024-12-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:286262 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26894 MONDO:0019497 Definitive 2017-09-12T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4dce399-9aeb-452e-a917-3603eb09d11f-2017-09-12T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5784 biolink:gene_associated_with_condition MONDO:0013324 infores:ubergraph knowledge_assertion manual_agent HGNC:9647 MONDO:0013324 NCBIGene:4148 biolink:gene_associated_with_condition MONDO:0007704 infores:ubergraph knowledge_assertion manual_agent HGNC:6909 MONDO:0007704 NCBIGene:8802 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8802 MONDO:0700096 No evidence available 0 true NCBIGene:1281 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1281 MONDO:0700096 No evidence available 0 true NCBIGene:6900 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:2172 MONDO:0100038 Definitive 2023-11-07T08:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe53f9b9-cb21-49a2-8c24-80f63fc75f0f-2023-11-07T080000.000Z AR Autosomal Recessive 0000007 NCBIGene:4579 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7502 MONDO:0044970 Definitive 2023-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d035d0c2-f0c9-4767-b833-99be610d3e46-2023-02-16T170000.000Z MT Mitochondrial 0001427 NCBIGene:79944 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20499 MONDO:0044970 Definitive 2023-07-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77d708b3-e8e3-4739-832b-0395a63f7342-2023-07-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4036 biolink:gene_associated_with_condition MONDO:0009104 infores:clingen NCBIGene:4036 MONDO:0009104 Gene associated with autosomal recessive phenotype 30 NCBIGene:259236 biolink:gene_associated_with_condition MONDO:0010965 infores:ubergraph knowledge_assertion manual_agent HGNC:30800 MONDO:0010965 NCBIGene:55857 biolink:gene_associated_with_condition MONDO:0700232 infores:clingen HGNC:15865 MONDO:0700232 Definitive 2023-02-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0705bfe-f3fa-495f-8a5d-77561d0afe91-2023-02-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0013387 infores:ubergraph knowledge_assertion manual_agent HGNC:6296 MONDO:0013387 NCBIGene:64421 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64421 MONDO:0700096 No evidence available 0 true NCBIGene:2554 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2554 MONDO:0700096 No evidence available 0 true NCBIGene:1406 biolink:gene_associated_with_condition MONDO:0007362 infores:clingen HGNC:2383 MONDO:0007362 Definitive 2024-12-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26f9f606-f3f3-45f0-b212-998bcea09765-2024-12-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3665 biolink:gene_associated_with_condition MONDO:0014597 infores:ubergraph knowledge_assertion manual_agent HGNC:6122 MONDO:0014597 NCBIGene:5176 biolink:gene_associated_with_condition MONDO:0013515 infores:clingen NCBIGene:5176 MONDO:0013515 Gene associated with autosomal recessive phenotype 30 NCBIGene:54949 biolink:gene_associated_with_condition MONDO:0011121 infores:ubergraph knowledge_assertion manual_agent HGNC:26034 MONDO:0011121 NCBIGene:2906 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4588 MONDO:0100038 Definitive 2022-03-15T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a52befb3-e9e0-46f1-9abf-8ead03151230-2022-03-15T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:5373 biolink:gene_associated_with_condition MONDO:1030000 infores:clingen HGNC:9115 MONDO:1030000 Moderate 2024-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2325bc92-b994-4c5a-b2cb-e2b757d8acbd-2024-02-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7343 biolink:gene_associated_with_condition MONDO:0044701 infores:ubergraph knowledge_assertion manual_agent HGNC:12511 MONDO:0044701 NCBIGene:114783 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:114783 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:54084 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54084 MONDO:0700096 No evidence available 0 true NCBIGene:29071 biolink:gene_associated_with_condition MONDO:0010381 infores:ubergraph knowledge_assertion manual_agent HGNC:24338 MONDO:0010381 NCBIGene:64132 biolink:gene_associated_with_condition MONDO:0011604 infores:ubergraph knowledge_assertion manual_agent HGNC:15517 MONDO:0011604 NCBIGene:7545 biolink:gene_associated_with_condition MONDO:0014705 infores:ubergraph knowledge_assertion manual_agent HGNC:12872 MONDO:0014705 NCBIGene:286053 biolink:gene_associated_with_condition MONDO:0014991 infores:ubergraph knowledge_assertion manual_agent HGNC:26513 MONDO:0014991 NCBIGene:138050 biolink:gene_associated_with_condition MONDO:0009657 infores:clingen NCBIGene:138050 MONDO:0009657 Definitive 2023-12-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_943b7a75-eb7f-415b-ba80-de6b09cc5a43-2023-12-04T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9128 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:17349 MONDO:0019118 Moderate 2024-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8db34ddb-4693-4efe-b62a-a2238f5696c8-2024-08-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6652 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:11184 MONDO:0015626 Definitive 2023-04-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aac3d58a-b916-4b71-819f-ba4ef1de18d2-2023-04-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3030 biolink:gene_associated_with_condition MONDO:0012173 infores:ubergraph knowledge_assertion manual_agent HGNC:4801 MONDO:0012173 NCBIGene:4072 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:11529 MONDO:0005835 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c071c7e-ba5c-46c7-b46b-fee6acf3a43f-2022-06-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0013032 infores:ubergraph knowledge_assertion manual_agent HGNC:1514 MONDO:0013032 NCBIGene:26227 biolink:gene_associated_with_condition MONDO:0018162 infores:clingen HGNC:8923 MONDO:0018162 Definitive 2020-06-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1b4e8da-d6e7-4494-abb0-f2953548a722-2020-06-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0100602 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0100602 NCBIGene:10297 biolink:gene_associated_with_condition MONDO:0032866 infores:ubergraph knowledge_assertion manual_agent HGNC:24036 MONDO:0032866 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0013198 infores:ubergraph knowledge_assertion manual_agent HGNC:7576 MONDO:0013198 NCBIGene:23155 biolink:gene_associated_with_condition MONDO:0012363 infores:ubergraph knowledge_assertion manual_agent HGNC:29675 MONDO:0012363 NCBIGene:100303755 biolink:gene_associated_with_condition MONDO:0033654 infores:ubergraph knowledge_assertion manual_agent HGNC:40045 MONDO:0033654 NCBIGene:57505 biolink:gene_associated_with_condition MONDO:0014387 infores:clingen NCBIGene:57505 MONDO:0014387 Gene associated with autosomal recessive phenotype 30 NCBIGene:8738 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8738 MONDO:0700096 No evidence available 0 true NCBIGene:1281 biolink:gene_associated_with_condition MONDO:0032688 infores:ubergraph knowledge_assertion manual_agent HGNC:2201 MONDO:0032688 NCBIGene:2175 biolink:gene_associated_with_condition MONDO:0009215 infores:clingen NCBIGene:2175 MONDO:0009215 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ceecf6ee-6700-40e5-a0d3-f7891805daac-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:440275 biolink:gene_associated_with_condition MONDO:0009329 infores:ubergraph knowledge_assertion manual_agent HGNC:19687 MONDO:0009329 NCBIGene:5664 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:9509 MONDO:0005021 No Known Disease Relationship 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e20579f-efc7-4ccd-8653-85c0aafe788f-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:126206 biolink:gene_associated_with_condition MONDO:0957231 infores:ubergraph knowledge_assertion manual_agent HGNC:21269 MONDO:0957231 NCBIGene:4763 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:7765 MONDO:0016248 No Known Disease Relationship 2017-02-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10082 AD Autosomal Dominant 0000006 NCBIGene:1716 biolink:gene_associated_with_condition MONDO:0009636 infores:clingen NCBIGene:1716 MONDO:0009636 Gene associated with autosomal recessive phenotype 30 NCBIGene:27032 biolink:gene_associated_with_condition MONDO:0008218 infores:ubergraph knowledge_assertion manual_agent HGNC:13211 MONDO:0008218 NCBIGene:1967 biolink:gene_associated_with_condition MONDO:0020507 infores:ubergraph knowledge_assertion manual_agent HGNC:3257 MONDO:0020507 NCBIGene:23746 biolink:gene_associated_with_condition MONDO:0100438 infores:ubergraph knowledge_assertion manual_agent HGNC:359 MONDO:0100438 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0017042 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0017042 NCBIGene:5190 biolink:gene_associated_with_condition MONDO:0100263 infores:ubergraph knowledge_assertion manual_agent HGNC:8859 MONDO:0100263 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0013034 infores:ubergraph knowledge_assertion manual_agent HGNC:3052 MONDO:0013034 NCBIGene:18 biolink:gene_associated_with_condition MONDO:0013166 infores:clingen NCBIGene:18 MONDO:0013166 Gene associated with autosomal recessive phenotype 30 NCBIGene:2348 biolink:gene_associated_with_condition MONDO:0013110 infores:ubergraph knowledge_assertion manual_agent HGNC:3791 MONDO:0013110 NCBIGene:91452 biolink:gene_associated_with_condition MONDO:0100112 infores:clingen HGNC:23338 MONDO:0100112 Definitive 2024-06-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac052f6-de8d-4c14-adf2-bbecb624defd-2024-06-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2057 biolink:gene_associated_with_condition MONDO:0007572 infores:ubergraph knowledge_assertion manual_agent HGNC:3416 MONDO:0007572 NCBIGene:81622 biolink:gene_associated_with_condition MONDO:0007915 infores:clingen HGNC:13481 MONDO:0007915 Moderate 2025-04-09T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd5e1c8-5047-4ea1-9045-cb5bf978613b-2025-04-09T190000.000Z SD Semidominant 0032113 NCBIGene:55217 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen NCBIGene:55217 MONDO:0005258 Disputed 2021-03-02T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:3938 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3938 MONDO:0700096 No evidence available 0 true NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0013302 infores:ubergraph knowledge_assertion manual_agent HGNC:28396 MONDO:0013302 NCBIGene:50943 biolink:gene_associated_with_condition MONDO:0010580 infores:clingen HGNC:6106 MONDO:0010580 Definitive 2023-10-10T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5864049-7fe7-42dd-ba85-2a1f1fdf9d50-2023-10-10T190000.000Z XL X-linked 0001417 NCBIGene:79809 biolink:gene_associated_with_condition MONDO:0013442 infores:ubergraph knowledge_assertion manual_agent HGNC:25660 MONDO:0013442 NCBIGene:4891 biolink:gene_associated_with_condition MONDO:0008787 infores:clingen HGNC:10908 MONDO:0008787 Definitive 2025-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aff3ef34-58dc-4f1d-97fb-09100330865b-2025-04-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6778 biolink:gene_associated_with_condition MONDO:0957807 infores:ubergraph knowledge_assertion manual_agent HGNC:11368 MONDO:0957807 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:12403 MONDO:0005045 Limited 2025-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c17e22eb-c6fc-487d-bcf6-001bb85fdabd-2025-10-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55556 biolink:gene_associated_with_condition MONDO:0031057 infores:ubergraph knowledge_assertion manual_agent HGNC:30365 MONDO:0031057 NCBIGene:8867 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:11503 MONDO:0100062 Definitive 2022-02-10T04:48:03.180Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a283140a-5d8d-47bb-9dff-32d091a16c7c-2022-02-10T044803.180Z AR Autosomal Recessive 0000007 NCBIGene:4175 biolink:gene_associated_with_condition MONDO:0006065 infores:ubergraph knowledge_assertion manual_agent HGNC:6949 MONDO:0006065 NCBIGene:8556 biolink:gene_associated_with_condition MONDO:0100069 infores:clingen HGNC:1718 MONDO:0100069 Strong 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_144089d2-83ec-4c6c-8b43-9a4cae801d51-2023-06-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57502 biolink:gene_associated_with_condition MONDO:0010343 infores:ubergraph knowledge_assertion manual_agent HGNC:14287 MONDO:0010343 NCBIGene:145226 biolink:gene_associated_with_condition MONDO:0800099 infores:ubergraph knowledge_assertion manual_agent HGNC:19977 MONDO:0800099 NCBIGene:1497 biolink:gene_associated_with_condition MONDO:0009064 infores:ubergraph knowledge_assertion manual_agent HGNC:2518 MONDO:0009064 NCBIGene:5147 biolink:gene_associated_with_condition MONDO:0014297 infores:ubergraph knowledge_assertion manual_agent HGNC:8788 MONDO:0014297 NCBIGene:7849 biolink:gene_associated_with_condition MONDO:0024264 infores:ubergraph knowledge_assertion manual_agent HGNC:8622 MONDO:0024264 NCBIGene:10804 biolink:gene_associated_with_condition MONDO:0007510 infores:ubergraph knowledge_assertion manual_agent HGNC:4288 MONDO:0007510 NCBIGene:59067 biolink:gene_associated_with_condition MONDO:0014338 infores:ubergraph knowledge_assertion manual_agent HGNC:6005 MONDO:0014338 NCBIGene:1675 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1675 MONDO:0700096 No evidence available 0 true NCBIGene:10205 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:3496 MONDO:0019497 Strong 2021-03-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_046d28d7-60d8-4c7e-a901-37c86fa6a77e-2021-03-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1911 biolink:gene_associated_with_condition MONDO:0014173 infores:ubergraph knowledge_assertion manual_agent HGNC:3182 MONDO:0014173 NCBIGene:4864 biolink:gene_associated_with_condition MONDO:0009757 infores:clingen NCBIGene:4864 MONDO:0009757 Definitive 2022-03-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8459873-2577-43ff-966c-e5180683d4f4-2022-03-01T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6942 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6942 MONDO:0700096 No evidence available 0 true NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0010275 infores:ubergraph knowledge_assertion manual_agent HGNC:8768 MONDO:0010275 NCBIGene:49 biolink:gene_associated_with_condition MONDO:0957594 infores:ubergraph knowledge_assertion manual_agent HGNC:126 MONDO:0957594 NCBIGene:6097 biolink:gene_associated_with_condition MONDO:0014710 infores:ubergraph knowledge_assertion manual_agent HGNC:10260 MONDO:0014710 NCBIGene:9401 biolink:gene_associated_with_condition MONDO:0010002 infores:clingen HGNC:9949 MONDO:0010002 Definitive 2018-10-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf00cfa-ac36-4eb0-94c4-69b05014e0f6-2018-10-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79053 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:23161 MONDO:0004691 Definitive 2025-03-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13259bf6-e954-4159-b247-c9685638e537-2025-03-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0012293 infores:ubergraph knowledge_assertion manual_agent HGNC:14674 MONDO:0012293 NCBIGene:9775 biolink:gene_associated_with_condition MONDO:0009998 infores:clingen NCBIGene:9775 MONDO:0009998 Gene associated with autosomal recessive phenotype 30 NCBIGene:113278 biolink:gene_associated_with_condition MONDO:0024537 infores:ubergraph knowledge_assertion manual_agent HGNC:16187 MONDO:0024537 NCBIGene:2812 biolink:gene_associated_with_condition MONDO:0009276 infores:clingen NCBIGene:2812 MONDO:0009276 Definitive 2019-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2064876d-ea54-4ace-be76-f700cfefbf90-2019-06-06T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10881 biolink:gene_associated_with_condition MONDO:0957593 infores:ubergraph knowledge_assertion manual_agent HGNC:161 MONDO:0957593 NCBIGene:219844 biolink:gene_associated_with_condition MONDO:0009365 infores:clingen NCBIGene:219844 MONDO:0009365 Gene associated with autosomal recessive phenotype 30 NCBIGene:2720 biolink:gene_associated_with_condition MONDO:0009660 infores:clingen HGNC:4298 MONDO:0009660 Definitive 2023-04-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e170fda-e08a-4fd3-a3e5-f08c5c0d55b8-2023-04-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:25981 biolink:gene_associated_with_condition MONDO:0033204 infores:ubergraph knowledge_assertion manual_agent HGNC:2940 MONDO:0033204 NCBIGene:8659 biolink:gene_associated_with_condition MONDO:0009401 infores:ubergraph knowledge_assertion manual_agent HGNC:406 MONDO:0009401 NCBIGene:27068 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:28883 MONDO:0005021 Strong 2025-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35b7716c-4c72-4ca2-b176-e732d136ed0d-2025-05-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9227 biolink:gene_associated_with_condition MONDO:0013231 infores:clingen NCBIGene:9227 MONDO:0013231 Gene associated with autosomal recessive phenotype 30 NCBIGene:80267 biolink:gene_associated_with_condition MONDO:0030423 infores:ubergraph knowledge_assertion manual_agent HGNC:16787 MONDO:0030423 NCBIGene:23310 biolink:gene_associated_with_condition MONDO:0054805 infores:ubergraph knowledge_assertion manual_agent HGNC:28952 MONDO:0054805 NCBIGene:7277 biolink:gene_associated_with_condition MONDO:0014531 infores:clingen HGNC:12407 MONDO:0014531 Moderate 2025-03-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7349d6e4-f351-4a8a-80f6-af62d3e716e5-2025-03-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:153642 biolink:gene_associated_with_condition MONDO:0030524 infores:ubergraph knowledge_assertion manual_agent HGNC:25239 MONDO:0030524 NCBIGene:2984 biolink:gene_associated_with_condition MONDO:0013825 infores:ubergraph knowledge_assertion manual_agent HGNC:4688 MONDO:0013825 NCBIGene:538 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:538 MONDO:0700096 No evidence available 0 true NCBIGene:9786 biolink:gene_associated_with_condition MONDO:0014688 infores:ubergraph knowledge_assertion manual_agent HGNC:19960 MONDO:0014688 NCBIGene:668 biolink:gene_associated_with_condition MONDO:0012169 infores:ubergraph knowledge_assertion manual_agent HGNC:1092 MONDO:0012169 NCBIGene:5449 biolink:gene_associated_with_condition MONDO:0024464 infores:ubergraph knowledge_assertion manual_agent HGNC:9210 MONDO:0024464 NCBIGene:8312 biolink:gene_associated_with_condition MONDO:0957832 infores:ubergraph knowledge_assertion manual_agent HGNC:903 MONDO:0957832 NCBIGene:79944 biolink:gene_associated_with_condition MONDO:0009370 infores:ubergraph knowledge_assertion manual_agent HGNC:20499 MONDO:0009370 NCBIGene:4123 biolink:gene_associated_with_condition MONDO:0030770 infores:ubergraph knowledge_assertion manual_agent HGNC:6827 MONDO:0030770 NCBIGene:3190 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3190 MONDO:0700096 No evidence available 0 true NCBIGene:5860 biolink:gene_associated_with_condition MONDO:0009862 infores:clingen NCBIGene:5860 MONDO:0009862 Definitive 2018-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cd45f13-9412-4439-9b68-cf2e3d02a646-2018-06-18T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:253943 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:253943 MONDO:0700096 No evidence available 0 true NCBIGene:2147 biolink:gene_associated_with_condition MONDO:0013728 infores:ubergraph knowledge_assertion manual_agent HGNC:3535 MONDO:0013728 NCBIGene:51761 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51761 MONDO:0700096 No evidence available 0 true NCBIGene:6862 biolink:gene_associated_with_condition MONDO:0014314 infores:ubergraph knowledge_assertion manual_agent HGNC:11515 MONDO:0014314 NCBIGene:4983 biolink:gene_associated_with_condition MONDO:0010337 infores:clingen NCBIGene:4983 MONDO:0010337 Definitive 2023-08-24T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0cb6e45b-501d-4a6f-b76b-b50d92d48f16-2023-08-24T060000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5727 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5727 MONDO:0700096 No evidence available 0 true NCBIGene:55687 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25481 MONDO:0044970 Definitive 2024-05-23T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d025dc5a-fd47-4418-bd20-e2dca69e3308-2024-05-23T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:4897 biolink:gene_associated_with_condition MONDO:0859236 infores:ubergraph knowledge_assertion manual_agent HGNC:7994 MONDO:0859236 NCBIGene:3425 biolink:gene_associated_with_condition MONDO:0011760 infores:ubergraph knowledge_assertion manual_agent HGNC:5391 MONDO:0011760 NCBIGene:2587 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2587 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:401 biolink:gene_associated_with_condition MONDO:0011181 infores:ubergraph knowledge_assertion manual_agent HGNC:691 MONDO:0011181 NCBIGene:23288 biolink:gene_associated_with_condition MONDO:0060550 infores:ubergraph knowledge_assertion manual_agent HGNC:29171 MONDO:0060550 NCBIGene:6950 biolink:gene_associated_with_condition MONDO:0976124 infores:ubergraph knowledge_assertion manual_agent HGNC:11655 MONDO:0976124 NCBIGene:650 biolink:gene_associated_with_condition MONDO:0100297 infores:ubergraph knowledge_assertion manual_agent HGNC:1069 MONDO:0100297 NCBIGene:64421 biolink:gene_associated_with_condition MONDO:0011225 infores:clingen NCBIGene:64421 MONDO:0011225 Definitive 2021-02-18T15:43:01.245Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_603e0855-2b57-4463-a9b7-1c5d70089a4f-2021-02-18T154301.245Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6595 biolink:gene_associated_with_condition MONDO:0859139 infores:ubergraph knowledge_assertion manual_agent HGNC:11098 MONDO:0859139 NCBIGene:55800 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:20665 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10160 AD Autosomal Dominant 0000006 NCBIGene:26580 biolink:gene_associated_with_condition MONDO:0018894 infores:clingen HGNC:15832 MONDO:0018894 Definitive 2022-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02472719-c26d-40ff-8ad4-897ef7a6800a-2022-09-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79809 biolink:gene_associated_with_condition MONDO:0013442 infores:clingen NCBIGene:79809 MONDO:0013442 Definitive 2021-11-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60f93fe0-145f-47a7-9ecf-613b1b1dfa7f-2021-11-10T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:84466 biolink:gene_associated_with_condition MONDO:0013731 infores:clingen HGNC:29634 MONDO:0013731 Definitive 2020-01-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d00193c-b0fd-40b4-b5d5-51eecece9669-2020-01-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1801 biolink:gene_associated_with_condition MONDO:0031632 infores:clingen HGNC:3003 MONDO:0031632 Definitive 2024-03-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae5e62ab-4531-456b-ae03-44a9ddee5ba0-2024-03-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84126 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:33499 MONDO:0016419 Limited 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d3d3117-9df2-4dbf-a925-e6a77945c8b7-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3800 biolink:gene_associated_with_condition MONDO:0014116 infores:ubergraph knowledge_assertion manual_agent HGNC:6325 MONDO:0014116 NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0007244 infores:clingen HGNC:2197 MONDO:0007244 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21b43a7b-79d4-4adf-b1a4-cd26e21ba8fa-2023-09-28T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:4548 biolink:gene_associated_with_condition MONDO:0009609 infores:clingen NCBIGene:4548 MONDO:0009609 Definitive 2021-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1572b7da-1736-4a44-9420-d9734d53f950-2021-07-02T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5376 biolink:gene_associated_with_condition MONDO:0007311 infores:ubergraph knowledge_assertion manual_agent HGNC:9118 MONDO:0007311 NCBIGene:6583 biolink:gene_associated_with_condition MONDO:0019588 infores:clingen HGNC:10968 MONDO:0019588 Limited 2025-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0bbbf84-878a-4863-a82c-14012e61d8f4-2025-09-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51181 biolink:gene_associated_with_condition MONDO:0009846 infores:ubergraph knowledge_assertion manual_agent HGNC:18985 MONDO:0009846 NCBIGene:23089 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23089 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:8473 biolink:gene_associated_with_condition MONDO:0030907 infores:clingen HGNC:8127 MONDO:0030907 Moderate 2024-08-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07776d36-7494-4ee4-992e-c6fb82c36749-2024-08-08T160000.000Z XL X-linked 0001417 NCBIGene:22852 biolink:gene_associated_with_condition MONDO:0008555 infores:ubergraph knowledge_assertion manual_agent HGNC:29186 MONDO:0008555 NCBIGene:95 biolink:gene_associated_with_condition MONDO:0012368 infores:clingen HGNC:177 MONDO:0012368 Definitive 2020-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67196825-d32f-4070-9c15-debaa2287b73-2020-09-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:50943 biolink:gene_associated_with_condition MONDO:0010580 infores:ubergraph knowledge_assertion manual_agent HGNC:6106 MONDO:0010580 NCBIGene:2070 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:3522 MONDO:0019497 Definitive 2018-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21c75059-bd7b-48ef-a828-28ffebe52ca0-2018-01-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84662 biolink:gene_associated_with_condition MONDO:0012680 infores:clingen HGNC:29450 MONDO:0012680 Moderate 2024-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c51be76f-59d3-4884-9df3-4416686848ab-2024-06-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:28985 biolink:gene_associated_with_condition MONDO:0958030 infores:ubergraph knowledge_assertion manual_agent HGNC:23357 MONDO:0958030 NCBIGene:55521 biolink:gene_associated_with_condition MONDO:0008791 infores:ubergraph knowledge_assertion manual_agent HGNC:16280 MONDO:0008791 NCBIGene:2072 biolink:gene_associated_with_condition MONDO:0014108 infores:ubergraph knowledge_assertion manual_agent HGNC:3436 MONDO:0014108 NCBIGene:1585 biolink:gene_associated_with_condition MONDO:0008751 infores:ubergraph knowledge_assertion manual_agent HGNC:2592 MONDO:0008751 NCBIGene:3030 biolink:gene_associated_with_condition MONDO:0958181 infores:ubergraph knowledge_assertion manual_agent HGNC:4801 MONDO:0958181 NCBIGene:92935 biolink:gene_associated_with_condition MONDO:0012664 infores:ubergraph knowledge_assertion manual_agent HGNC:25133 MONDO:0012664 NCBIGene:26585 biolink:gene_associated_with_condition MONDO:0011023 infores:clingen HGNC:2001 MONDO:0011023 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e702a1e-b700-4364-bf4b-9ad0d05af89f-2022-06-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2312 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2312 MONDO:0700096 No evidence available 0 true NCBIGene:60684 biolink:gene_associated_with_condition MONDO:0014144 infores:ubergraph knowledge_assertion manual_agent HGNC:25751 MONDO:0014144 NCBIGene:196 biolink:gene_associated_with_condition MONDO:0975805 infores:ubergraph knowledge_assertion manual_agent HGNC:348 MONDO:0975805 NCBIGene:3736 biolink:gene_associated_with_condition MONDO:0008047 infores:clingen HGNC:6218 MONDO:0008047 Definitive 2023-03-07T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be2294a9-78d0-48f5-9b55-d6abb3d0a55f-2023-03-07T060000.000Z AD Autosomal Dominant 0000006 NCBIGene:5339 biolink:gene_associated_with_condition MONDO:0016198 infores:ubergraph knowledge_assertion manual_agent HGNC:9069 MONDO:0016198 NCBIGene:400916 biolink:gene_associated_with_condition MONDO:0014395 infores:ubergraph knowledge_assertion manual_agent HGNC:15559 MONDO:0014395 NCBIGene:55768 biolink:gene_associated_with_condition MONDO:0800044 infores:ubergraph knowledge_assertion manual_agent HGNC:17646 MONDO:0800044 NCBIGene:3786 biolink:gene_associated_with_condition MONDO:0100023 infores:clingen HGNC:6297 MONDO:0100023 Moderate 2023-08-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_875415b6-877e-4a99-8591-f3de963a7920-2023-08-01T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10345 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:12261 MONDO:0002442 Strong 2020-04-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1278bd6a-6ac7-4556-87ea-f860027b2da5-2020-04-24T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3953 biolink:gene_associated_with_condition MONDO:0013992 infores:ubergraph knowledge_assertion manual_agent HGNC:6554 MONDO:0013992 NCBIGene:23301 biolink:gene_associated_with_condition MONDO:0012741 infores:ubergraph knowledge_assertion manual_agent HGNC:29144 MONDO:0012741 NCBIGene:23261 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23261 MONDO:0700096 No evidence available 0 true NCBIGene:2239 biolink:gene_associated_with_condition MONDO:0009720 infores:ubergraph knowledge_assertion manual_agent HGNC:4452 MONDO:0009720 NCBIGene:9445 biolink:gene_associated_with_condition MONDO:0007297 infores:ubergraph knowledge_assertion manual_agent HGNC:6174 MONDO:0007297 NCBIGene:55975 biolink:gene_associated_with_condition MONDO:0014890 infores:ubergraph knowledge_assertion manual_agent HGNC:15646 MONDO:0014890 NCBIGene:79083 biolink:gene_associated_with_condition MONDO:0012220 infores:clingen NCBIGene:79083 MONDO:0012220 Gene associated with autosomal recessive phenotype 30 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0013530 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0013530 NCBIGene:2271 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2271 MONDO:0700096 No evidence available 0 true NCBIGene:10734 biolink:gene_associated_with_condition MONDO:0014321 infores:ubergraph knowledge_assertion manual_agent HGNC:11356 MONDO:0014321 NCBIGene:2294 biolink:gene_associated_with_condition MONDO:0009934 infores:ubergraph knowledge_assertion manual_agent HGNC:3809 MONDO:0009934 NCBIGene:51079 biolink:gene_associated_with_condition MONDO:0032632 infores:ubergraph knowledge_assertion manual_agent HGNC:17194 MONDO:0032632 NCBIGene:6601 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:11105 MONDO:0015452 Definitive 2025-09-17T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa645aa6-3a03-4ab7-9d09-b17be3184259-2025-09-17T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:1355 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:2263 MONDO:0009723 Limited 2019-05-20T18:33:21.284Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5c8d1e1-24d0-4b88-8c04-023197db14f3-2019-05-20T183321.284Z AR Autosomal Recessive 0000007 NCBIGene:2626 biolink:gene_associated_with_condition MONDO:0100009 infores:clingen HGNC:4173 MONDO:0100009 Definitive 2023-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_005cf235-4d8d-4f12-9e75-59d3f7c4d933-2023-02-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3931 biolink:gene_associated_with_condition MONDO:0007620 infores:ubergraph knowledge_assertion manual_agent HGNC:6522 MONDO:0007620 NCBIGene:4884 biolink:gene_associated_with_condition MONDO:0020380 infores:clingen HGNC:7952 MONDO:0020380 Limited 2024-09-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25b36b0e-4b63-436b-b74a-4d54876cae8d-2024-09-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:131118 biolink:gene_associated_with_condition MONDO:0012435 infores:ubergraph knowledge_assertion manual_agent HGNC:30528 MONDO:0012435 NCBIGene:80169 biolink:gene_associated_with_condition MONDO:0024564 infores:ubergraph knowledge_assertion manual_agent HGNC:26169 MONDO:0024564 NCBIGene:85440 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:85440 MONDO:0700096 No evidence available 0 true NCBIGene:200894 biolink:gene_associated_with_condition MONDO:0012855 infores:ubergraph knowledge_assertion manual_agent HGNC:25419 MONDO:0012855 NCBIGene:6477 biolink:gene_associated_with_condition MONDO:0859144 infores:ubergraph knowledge_assertion manual_agent HGNC:10857 MONDO:0859144 NCBIGene:27429 biolink:gene_associated_with_condition MONDO:0044723 infores:clingen HGNC:14348 MONDO:0044723 Definitive 2022-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0e86ea2-d848-442c-8bef-0818e39f3752-2022-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:50945 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:50945 MONDO:0700096 No evidence available 0 true NCBIGene:617 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:1020 MONDO:0009723 Limited 2019-09-19T15:53:15.896Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b50d7db-1144-4187-a60c-72b45adb80bd-2019-09-19T155315.896Z AR Autosomal Recessive 0000007 NCBIGene:2566 biolink:gene_associated_with_condition MONDO:0032725 infores:ubergraph knowledge_assertion manual_agent HGNC:4087 MONDO:0032725 NCBIGene:4921 biolink:gene_associated_with_condition MONDO:0032579 infores:ubergraph knowledge_assertion manual_agent HGNC:2731 MONDO:0032579 NCBIGene:57061 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57061 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4604 biolink:gene_associated_with_condition MONDO:0032797 infores:ubergraph knowledge_assertion manual_agent HGNC:7549 MONDO:0032797 NCBIGene:55605 biolink:gene_associated_with_condition MONDO:0021083 infores:ubergraph knowledge_assertion manual_agent HGNC:19349 MONDO:0021083 NCBIGene:2072 biolink:gene_associated_with_condition MONDO:0010215 infores:clingen HGNC:3436 MONDO:0010215 Definitive 2019-08-14T19:44:06.189Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89544dc5-2d3b-4b7f-b835-3fec714bf7a5-2019-08-14T194406.189Z AR Autosomal Recessive 0000007 NCBIGene:1415 biolink:gene_associated_with_condition MONDO:0011104 infores:ubergraph knowledge_assertion manual_agent HGNC:2398 MONDO:0011104 NCBIGene:3912 biolink:gene_associated_with_condition MONDO:0014077 infores:clingen HGNC:6486 MONDO:0014077 Moderate 2016-11-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5461 AR Autosomal Recessive 0000007 NCBIGene:1374 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1374 MONDO:0700096 No evidence available 0 true NCBIGene:2153 biolink:gene_associated_with_condition MONDO:0009210 infores:ubergraph knowledge_assertion manual_agent HGNC:3542 MONDO:0009210 NCBIGene:3815 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3815 MONDO:0700096 No evidence available 0 true NCBIGene:7957 biolink:gene_associated_with_condition MONDO:0009697 infores:clingen NCBIGene:7957 MONDO:0009697 Definitive 2020-05-23T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f970ced6-0164-41ed-9e1f-1fb9f892bca6-2020-05-23T190000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:657 biolink:gene_associated_with_condition MONDO:0012405 infores:ubergraph knowledge_assertion manual_agent HGNC:1076 MONDO:0012405 NCBIGene:4439 biolink:gene_associated_with_condition MONDO:0030972 infores:ubergraph knowledge_assertion manual_agent HGNC:7328 MONDO:0030972 NCBIGene:54820 biolink:gene_associated_with_condition MONDO:0700116 infores:ubergraph knowledge_assertion manual_agent HGNC:17619 MONDO:0700116 NCBIGene:4541 biolink:gene_associated_with_condition MONDO:0800040 infores:ubergraph knowledge_assertion manual_agent HGNC:7462 MONDO:0800040 NCBIGene:7337 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7337 MONDO:0700096 No evidence available 0 true NCBIGene:5161 biolink:gene_associated_with_condition MONDO:0030733 infores:ubergraph knowledge_assertion manual_agent HGNC:8807 MONDO:0030733 NCBIGene:34 biolink:gene_associated_with_condition MONDO:0008721 infores:clingen NCBIGene:34 MONDO:0008721 Definitive 2018-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb987774-0e5b-4466-924f-6f19fccc6599-2018-01-23T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9440 biolink:gene_associated_with_condition MONDO:0013351 infores:ubergraph knowledge_assertion manual_agent HGNC:2375 MONDO:0013351 NCBIGene:5130 biolink:gene_associated_with_condition MONDO:0012160 infores:ubergraph knowledge_assertion manual_agent HGNC:8754 MONDO:0012160 NCBIGene:55181 biolink:gene_associated_with_condition MONDO:0859136 infores:clingen HGNC:25551 MONDO:0859136 Definitive 2023-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d23a6b27-7d29-4547-81bc-11305470dab0-2023-10-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79977 biolink:gene_associated_with_condition MONDO:0054832 infores:ubergraph knowledge_assertion manual_agent HGNC:2799 MONDO:0054832 NCBIGene:11055 biolink:gene_associated_with_condition MONDO:0030716 infores:ubergraph knowledge_assertion manual_agent HGNC:15662 MONDO:0030716 NCBIGene:84504 biolink:gene_associated_with_condition MONDO:0033043 infores:ubergraph knowledge_assertion manual_agent HGNC:19321 MONDO:0033043 NCBIGene:6492 biolink:gene_associated_with_condition MONDO:0018244 infores:ubergraph knowledge_assertion manual_agent HGNC:10882 MONDO:0018244 NCBIGene:672 biolink:gene_associated_with_condition MONDO:0054748 infores:clingen HGNC:1100 MONDO:0054748 Definitive 2020-05-14T00:31:37.538Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa39798d-9b6e-430d-8bc1-2a01f81f1f72-2020-05-14T003137.538Z AR Autosomal Recessive 0000007 NCBIGene:8260 biolink:gene_associated_with_condition MONDO:0100124 infores:ubergraph knowledge_assertion manual_agent HGNC:18704 MONDO:0100124 NCBIGene:125336 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:125336 MONDO:0700096 No evidence available 0 true NCBIGene:2719 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2719 MONDO:0700096 No evidence available 0 true NCBIGene:6821 biolink:gene_associated_with_condition MONDO:0010089 infores:clingen HGNC:11460 MONDO:0010089 Definitive 2019-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be1ff294-4444-4d39-a507-a2115bcdcd58-2019-03-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3347 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3347 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:4645 biolink:gene_associated_with_condition MONDO:0009635 infores:ubergraph knowledge_assertion manual_agent HGNC:7603 MONDO:0009635 NCBIGene:55193 biolink:gene_associated_with_condition MONDO:0700122 infores:ubergraph knowledge_assertion manual_agent HGNC:30064 MONDO:0700122 NCBIGene:374393 biolink:gene_associated_with_condition MONDO:0014310 infores:ubergraph knowledge_assertion manual_agent HGNC:24200 MONDO:0014310 NCBIGene:4948 biolink:gene_associated_with_condition MONDO:0008746 infores:clingen NCBIGene:4948 MONDO:0008746 Definitive 2021-08-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7433c1e2-a3a6-4351-88e0-cb3edcf39910-2021-08-25T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0011159 infores:ubergraph knowledge_assertion manual_agent HGNC:2187 MONDO:0011159 NCBIGene:9187 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9187 MONDO:0700096 No evidence available 0 true NCBIGene:57094 biolink:gene_associated_with_condition MONDO:0024566 infores:ubergraph knowledge_assertion manual_agent HGNC:17245 MONDO:0024566 NCBIGene:1410 biolink:gene_associated_with_condition MONDO:0013472 infores:ubergraph knowledge_assertion manual_agent HGNC:2389 MONDO:0013472 NCBIGene:6654 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:11187 MONDO:0009026 Disputed 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf0ea291-849a-4bd9-a12a-cd9daad7e214-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:150468 biolink:gene_associated_with_condition MONDO:0010092 infores:ubergraph knowledge_assertion manual_agent HGNC:26877 MONDO:0010092 NCBIGene:6768 biolink:gene_associated_with_condition MONDO:0011218 infores:clingen NCBIGene:6768 MONDO:0011218 Gene associated with autosomal recessive phenotype 30 NCBIGene:29940 biolink:gene_associated_with_condition MONDO:0014236 infores:clingen NCBIGene:29940 MONDO:0014236 Definitive 2025-09-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61c437cd-f914-4205-883f-22fc61126df0-2025-09-12T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1586 biolink:gene_associated_with_condition MONDO:0008730 infores:ubergraph knowledge_assertion manual_agent HGNC:2593 MONDO:0008730 NCBIGene:8242 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8242 MONDO:0700096 No evidence available 0 true NCBIGene:1293 biolink:gene_associated_with_condition MONDO:0014627 infores:clingen HGNC:2213 MONDO:0014627 Limited 2025-08-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a109763-6fff-4da9-b826-7c2544d3f878-2025-08-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:83605 biolink:gene_associated_with_condition MONDO:0011304 infores:ubergraph knowledge_assertion manual_agent HGNC:21708 MONDO:0011304 NCBIGene:3746 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:3746 MONDO:0100038 Definitive 2022-11-07T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5146494e-71e7-4e06-b10f-cc126429e3fb-2022-11-07T200000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:10699 biolink:gene_associated_with_condition MONDO:0013817 infores:ubergraph knowledge_assertion manual_agent HGNC:19012 MONDO:0013817 NCBIGene:4009 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:6653 MONDO:0019587 Definitive 2025-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_163f8708-7d3b-424a-826a-76e37260745c-2025-04-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:80217 biolink:gene_associated_with_condition MONDO:0054723 infores:clingen HGNC:26684 MONDO:0054723 Definitive 2022-12-14T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5055c70-e22e-47e5-af3b-04f3f2a0ed34-2022-12-14T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:64919 biolink:gene_associated_with_condition MONDO:0060763 infores:ubergraph knowledge_assertion manual_agent HGNC:13222 MONDO:0060763 NCBIGene:675 biolink:gene_associated_with_condition MONDO:0700269 infores:clingen NCBIGene:675 MONDO:0700269 Definitive 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e504fdc-d8b1-474e-8f01-d1b1f8267c79-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10568 biolink:gene_associated_with_condition MONDO:0009928 infores:clingen NCBIGene:10568 MONDO:0009928 Gene associated with autosomal recessive phenotype 30 NCBIGene:27077 biolink:gene_associated_with_condition MONDO:0014927 infores:clingen NCBIGene:27077 MONDO:0014927 Gene associated with autosomal recessive phenotype 30 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0011882 infores:ubergraph knowledge_assertion manual_agent HGNC:3052 MONDO:0011882 NCBIGene:8777 biolink:gene_associated_with_condition MONDO:0014085 infores:clingen NCBIGene:8777 MONDO:0014085 Gene associated with autosomal recessive phenotype 30 NCBIGene:23025 biolink:gene_associated_with_condition MONDO:0002320 infores:clingen HGNC:23150 MONDO:0002320 Limited 2021-10-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cbf5d81-6724-47ab-900c-2adef7095431-2021-10-17T040000.000Z UD Undetermined Mode of Inheritance NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0007866 infores:ubergraph knowledge_assertion manual_agent HGNC:4284 MONDO:0007866 NCBIGene:6011 biolink:gene_associated_with_condition MONDO:0013259 infores:ubergraph knowledge_assertion manual_agent HGNC:10013 MONDO:0013259 NCBIGene:79947 biolink:gene_associated_with_condition MONDO:1040054 infores:clingen HGNC:20603 MONDO:1040054 Definitive 2023-04-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d9424-1f8c-4d72-8e79-2e0b8cc7c445-2023-04-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0054801 infores:ubergraph knowledge_assertion manual_agent HGNC:4827 MONDO:0054801 NCBIGene:5723 biolink:gene_associated_with_condition MONDO:0013531 infores:ubergraph knowledge_assertion manual_agent HGNC:9577 MONDO:0013531 NCBIGene:5079 biolink:gene_associated_with_condition MONDO:0014241 infores:ubergraph knowledge_assertion manual_agent HGNC:8619 MONDO:0014241 NCBIGene:7737 biolink:gene_associated_with_condition MONDO:0010495 infores:ubergraph knowledge_assertion manual_agent HGNC:12974 MONDO:0010495 NCBIGene:4308 biolink:gene_associated_with_condition MONDO:0013183 infores:clingen NCBIGene:4308 MONDO:0013183 Gene associated with autosomal recessive phenotype 30 NCBIGene:6786 biolink:gene_associated_with_condition MONDO:0013008 infores:clingen HGNC:11386 MONDO:0013008 Definitive 2025-08-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1fdaadc-899e-41bb-b115-97d86814a203-2025-08-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7159 biolink:gene_associated_with_condition MONDO:0005338 infores:clingen HGNC:12000 MONDO:0005338 Disputed 2023-05-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05ac2b0b-5f6d-4227-ad08-0bb6c852583f-2023-05-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7372 biolink:gene_associated_with_condition MONDO:0009797 infores:ubergraph knowledge_assertion manual_agent HGNC:12563 MONDO:0009797 NCBIGene:3675 biolink:gene_associated_with_condition MONDO:0013881 infores:ubergraph knowledge_assertion manual_agent HGNC:6139 MONDO:0013881 NCBIGene:1146 biolink:gene_associated_with_condition MONDO:0100158 infores:clingen HGNC:1967 MONDO:0100158 Definitive 2023-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c68f759b-0c39-417c-a192-99f9c0e4eeb5-2023-09-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26276 biolink:gene_associated_with_condition MONDO:0031040 infores:ubergraph knowledge_assertion manual_agent HGNC:12712 MONDO:0031040 NCBIGene:2806 biolink:gene_associated_with_condition MONDO:0032880 infores:ubergraph knowledge_assertion manual_agent HGNC:4433 MONDO:0032880 NCBIGene:400916 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:15559 MONDO:0044970 Definitive 2023-05-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6940c6eb-dacf-46ce-a08c-d8b9f98b04ae-2023-05-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1938 biolink:gene_associated_with_condition MONDO:0012246 infores:ubergraph knowledge_assertion manual_agent HGNC:3214 MONDO:0012246 NCBIGene:28981 biolink:gene_associated_with_condition MONDO:0033485 infores:clingen HGNC:14313 MONDO:0033485 Moderate 2025-03-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb2fbc39-acf0-4c60-904a-d712171f601d-2025-03-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23221 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:18756 MONDO:0100038 Definitive 2024-01-16T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdb97806-9f55-42d1-ab27-b6222faef8ce-2024-01-16T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:60684 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:25751 MONDO:0015152 Definitive 2024-08-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b835ba1-afbd-48ac-afec-b9396acc5521-2024-08-14T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:116519 biolink:gene_associated_with_condition MONDO:0007762 infores:ubergraph knowledge_assertion manual_agent HGNC:17288 MONDO:0007762 NCBIGene:7456 biolink:gene_associated_with_condition MONDO:0013779 infores:clingen HGNC:12736 MONDO:0013779 Definitive 2023-04-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93bc67d5-b9f8-4eab-8f8a-cdc10595be30-2023-04-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2296 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2296 MONDO:0700096 No evidence available 0 true NCBIGene:65109 biolink:gene_associated_with_condition MONDO:0010398 infores:ubergraph knowledge_assertion manual_agent HGNC:20439 MONDO:0010398 NCBIGene:3766 biolink:gene_associated_with_condition MONDO:0013005 infores:ubergraph knowledge_assertion manual_agent HGNC:6256 MONDO:0013005 NCBIGene:1373 biolink:gene_associated_with_condition MONDO:0009376 infores:clingen NCBIGene:1373 MONDO:0009376 Definitive 2018-10-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc4dbbe-8827-4d68-a396-8368f3801e78-2018-10-12T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0007037 infores:clingen HGNC:3690 MONDO:0007037 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0adafa1b-e609-4b99-8e90-f73473b70771-2023-09-28T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:10916 biolink:gene_associated_with_condition MONDO:0010503 infores:ubergraph knowledge_assertion manual_agent HGNC:16353 MONDO:0010503 NCBIGene:84720 biolink:gene_associated_with_condition MONDO:0013882 infores:clingen NCBIGene:84720 MONDO:0013882 Gene associated with autosomal recessive phenotype 30 NCBIGene:5890 biolink:gene_associated_with_condition MONDO:0013669 infores:clingen NCBIGene:5890 MONDO:0013669 true Little evidence for dosage pathogenicity 1 NCBIGene:1956 biolink:gene_associated_with_condition MONDO:0014481 infores:ubergraph knowledge_assertion manual_agent HGNC:3236 MONDO:0014481 NCBIGene:4233 biolink:gene_associated_with_condition MONDO:0011806 infores:ubergraph knowledge_assertion manual_agent HGNC:7029 MONDO:0011806 NCBIGene:246213 biolink:gene_associated_with_condition MONDO:0011568 infores:ubergraph knowledge_assertion manual_agent HGNC:20151 MONDO:0011568 NCBIGene:79092 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79092 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6925 biolink:gene_associated_with_condition MONDO:0012589 infores:ubergraph knowledge_assertion manual_agent HGNC:11634 MONDO:0012589 NCBIGene:547 biolink:gene_associated_with_condition MONDO:0971149 infores:ubergraph knowledge_assertion manual_agent HGNC:888 MONDO:0971149 NCBIGene:9750 biolink:gene_associated_with_condition MONDO:0014675 infores:ubergraph knowledge_assertion manual_agent HGNC:13872 MONDO:0014675 NCBIGene:29914 biolink:gene_associated_with_condition MONDO:0007374 infores:ubergraph knowledge_assertion manual_agent HGNC:30791 MONDO:0007374 NCBIGene:11043 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11043 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:10159 biolink:gene_associated_with_condition MONDO:0100146 infores:ubergraph knowledge_assertion manual_agent HGNC:18305 MONDO:0100146 NCBIGene:83636 biolink:gene_associated_with_condition MONDO:0013674 infores:ubergraph knowledge_assertion manual_agent HGNC:25443 MONDO:0013674 NCBIGene:26580 biolink:gene_associated_with_condition MONDO:0010020 infores:ubergraph knowledge_assertion manual_agent HGNC:15832 MONDO:0010020 NCBIGene:771 biolink:gene_associated_with_condition MONDO:0007747 infores:clingen NCBIGene:771 MONDO:0007747 Gene associated with autosomal recessive phenotype 30 NCBIGene:10861 biolink:gene_associated_with_condition MONDO:0020722 infores:ubergraph knowledge_assertion manual_agent HGNC:10993 MONDO:0020722 NCBIGene:89781 biolink:gene_associated_with_condition MONDO:0013556 infores:clingen HGNC:15844 MONDO:0013556 Definitive 2020-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3649fe18-730d-4d46-ad60-b70d421abc02-2020-05-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:54209 biolink:gene_associated_with_condition MONDO:0020750 infores:ubergraph knowledge_assertion manual_agent HGNC:17761 MONDO:0020750 NCBIGene:3756 biolink:gene_associated_with_condition MONDO:0100485 infores:ubergraph knowledge_assertion manual_agent HGNC:6250 MONDO:0100485 NCBIGene:8942 biolink:gene_associated_with_condition MONDO:0060555 infores:clingen HGNC:6469 MONDO:0060555 Definitive 2022-10-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70d2f25f-b3f0-4f1b-b7bf-ad8d3562c959-2022-10-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4607 MONDO:0700096 No evidence available 0 true NCBIGene:9675 biolink:gene_associated_with_condition MONDO:0957531 infores:ubergraph knowledge_assertion manual_agent HGNC:29029 MONDO:0957531 NCBIGene:547 biolink:gene_associated_with_condition MONDO:0012476 infores:ubergraph knowledge_assertion manual_agent HGNC:888 MONDO:0012476 NCBIGene:203859 biolink:gene_associated_with_condition MONDO:0012652 infores:ubergraph knowledge_assertion manual_agent HGNC:27337 MONDO:0012652 NCBIGene:6506 biolink:gene_associated_with_condition MONDO:0014916 infores:ubergraph knowledge_assertion manual_agent HGNC:10940 MONDO:0014916 NCBIGene:7454 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7454 MONDO:0700096 No evidence available 0 true Sufficient evidence for dosage pathogenicity 3 NCBIGene:5155 biolink:gene_associated_with_condition MONDO:0014204 infores:ubergraph knowledge_assertion manual_agent HGNC:8800 MONDO:0014204 NCBIGene:23322 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:29168 MONDO:0005308 Definitive 2024-04-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4cfcff-be99-4c82-ab33-8451b5ed5b0c-2024-04-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0008391 infores:ubergraph knowledge_assertion manual_agent HGNC:12428 MONDO:0008391 NCBIGene:5139 biolink:gene_associated_with_condition MONDO:0007211 infores:ubergraph knowledge_assertion manual_agent HGNC:8778 MONDO:0007211 NCBIGene:4723 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4723 MONDO:0700096 No evidence available 0 true NCBIGene:6654 biolink:gene_associated_with_condition MONDO:0012547 infores:ubergraph knowledge_assertion manual_agent HGNC:11187 MONDO:0012547 NCBIGene:6307 biolink:gene_associated_with_condition MONDO:0014793 infores:ubergraph knowledge_assertion manual_agent HGNC:10545 MONDO:0014793 NCBIGene:695 biolink:gene_associated_with_condition MONDO:0010615 infores:clingen HGNC:1133 MONDO:0010615 Disputed 2020-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6341781b-9ba9-41b1-889a-8d65a9b3ebb7-2020-11-17T170000.000Z XL X-linked 0001417 NCBIGene:5880 biolink:gene_associated_with_condition MONDO:0033554 infores:ubergraph knowledge_assertion manual_agent HGNC:9802 MONDO:0033554 NCBIGene:57498 biolink:gene_associated_with_condition MONDO:0859184 infores:clingen HGNC:29508 MONDO:0859184 Definitive 2024-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bd6659f-99b4-4274-9eb5-2500f98367b1-2024-10-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:404672 biolink:gene_associated_with_condition MONDO:0014619 infores:ubergraph knowledge_assertion manual_agent HGNC:21157 MONDO:0014619 NCBIGene:2707 biolink:gene_associated_with_condition MONDO:0017851 infores:clingen HGNC:4285 MONDO:0017851 Definitive 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d48c959-31d8-44e2-985c-c48921e8f08a-2023-06-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:94137 biolink:gene_associated_with_condition MONDO:0013316 infores:ubergraph knowledge_assertion manual_agent HGNC:15946 MONDO:0013316 NCBIGene:169522 biolink:gene_associated_with_condition MONDO:0012475 infores:clingen NCBIGene:169522 MONDO:0012475 Gene associated with autosomal recessive phenotype 30 NCBIGene:27249 biolink:gene_associated_with_condition MONDO:0019220 infores:clingen HGNC:25221 MONDO:0019220 Definitive 2021-05-12T18:27:39.747Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ec59af-a143-4424-9218-7fd75deb6a61-2021-05-12T182739.747Z AR Autosomal Recessive 0000007 NCBIGene:23312 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23312 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7168 biolink:gene_associated_with_condition MONDO:0012744 infores:ubergraph knowledge_assertion manual_agent HGNC:12010 MONDO:0012744 NCBIGene:440138 biolink:gene_associated_with_condition MONDO:0013349 infores:ubergraph knowledge_assertion manual_agent HGNC:32456 MONDO:0013349 NCBIGene:2752 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:4341 MONDO:0100062 Moderate 2025-01-07T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd1658f4-ac4f-47e2-91a1-a127550a5ee9-2025-01-07T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:1293 biolink:gene_associated_with_condition MONDO:0958236 infores:ubergraph knowledge_assertion manual_agent HGNC:2213 MONDO:0958236 NCBIGene:2186 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:2186 MONDO:0000508 Definitive 2022-07-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08521bf8-a5a2-4a44-941b-12d9eae7aa4f-2022-07-06T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0011821 infores:ubergraph knowledge_assertion manual_agent HGNC:28396 MONDO:0011821 NCBIGene:841 biolink:gene_associated_with_condition MONDO:0011804 infores:ubergraph knowledge_assertion manual_agent HGNC:1509 MONDO:0011804 NCBIGene:8647 biolink:gene_associated_with_condition MONDO:0011559 infores:ubergraph knowledge_assertion manual_agent HGNC:42 MONDO:0011559 NCBIGene:10133 biolink:gene_associated_with_condition MONDO:0013264 infores:clingen HGNC:17142 MONDO:0013264 Definitive 2022-05-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d8edc80-413c-4c76-bf06-89198175ac65-2022-05-10T170000.000Z SD Semidominant 0032113 NCBIGene:537 biolink:gene_associated_with_condition MONDO:0010504 infores:ubergraph knowledge_assertion manual_agent HGNC:868 MONDO:0010504 NCBIGene:4233 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:7029 MONDO:0100038 Disputed 2021-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d55c61af-ef8e-475d-9ff7-454496cb6462-2021-01-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6514 biolink:gene_associated_with_condition MONDO:0009216 infores:ubergraph knowledge_assertion manual_agent HGNC:11006 MONDO:0009216 NCBIGene:1200 biolink:gene_associated_with_condition MONDO:0012235 infores:ubergraph knowledge_assertion manual_agent HGNC:2073 MONDO:0012235 NCBIGene:5903 biolink:gene_associated_with_condition MONDO:0011953 infores:clingen HGNC:9848 MONDO:0011953 Moderate 2024-04-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e375774-fce0-48a2-b83d-c7814c9de23f-2024-04-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2157 biolink:gene_associated_with_condition MONDO:0859082 infores:ubergraph knowledge_assertion manual_agent HGNC:3546 MONDO:0859082 NCBIGene:133686 biolink:gene_associated_with_condition MONDO:0014464 infores:clingen HGNC:26404 MONDO:0014464 Moderate 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_285bdfcd-10c2-48f9-9be9-d77894b26f19-2025-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1716 biolink:gene_associated_with_condition MONDO:0009636 infores:ubergraph knowledge_assertion manual_agent HGNC:2858 MONDO:0009636 NCBIGene:5949 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5949 MONDO:0700096 No evidence available 0 true NCBIGene:90268 biolink:gene_associated_with_condition MONDO:0700338 infores:ubergraph knowledge_assertion manual_agent HGNC:25118 MONDO:0700338 NCBIGene:6628 biolink:gene_associated_with_condition MONDO:0007301 infores:ubergraph knowledge_assertion manual_agent HGNC:11153 MONDO:0007301 NCBIGene:1108 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:1919 MONDO:0000508 Definitive 2023-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1795399-d5bc-456d-bc6b-be07d7ab6af6-2023-04-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:396 biolink:gene_associated_with_condition MONDO:0014099 infores:ubergraph knowledge_assertion manual_agent HGNC:678 MONDO:0014099 NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0013767 infores:ubergraph knowledge_assertion manual_agent HGNC:7989 MONDO:0013767 NCBIGene:55800 biolink:gene_associated_with_condition MONDO:0013146 infores:ubergraph knowledge_assertion manual_agent HGNC:20665 MONDO:0013146 NCBIGene:5395 biolink:gene_associated_with_condition MONDO:0010159 infores:clingen HGNC:9122 MONDO:0010159 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38bc9d1d-a436-4f21-9952-bd5e7790a797-2022-12-30T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:1298 biolink:gene_associated_with_condition MONDO:0019354 infores:clingen HGNC:2218 MONDO:0019354 Limited 2019-02-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_697ae26e-2b07-4f87-b42c-121684c89bc0-2019-02-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:2186 MONDO:0019587 Moderate 2025-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72d6c6cc-1332-45c0-ba33-fd6e2c17e7fb-2025-06-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9757 biolink:gene_associated_with_condition MONDO:0015004 infores:ubergraph knowledge_assertion manual_agent HGNC:15840 MONDO:0015004 NCBIGene:7498 biolink:gene_associated_with_condition MONDO:0010209 infores:clingen NCBIGene:7498 MONDO:0010209 Gene associated with autosomal recessive phenotype 30 NCBIGene:444 biolink:gene_associated_with_condition MONDO:0011106 infores:clingen NCBIGene:444 MONDO:0011106 Gene associated with autosomal recessive phenotype 30 NCBIGene:23355 biolink:gene_associated_with_condition MONDO:0015168 infores:clingen HGNC:29122 MONDO:0015168 Limited 2016-11-24T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5463 AR Autosomal Recessive 0000007 NCBIGene:6597 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:11100 MONDO:0015452 Definitive 2025-06-08T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61d29c73-9a30-4664-9df2-2f5831219221-2025-06-08T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:7012 biolink:gene_associated_with_condition MONDO:0013879 infores:ubergraph knowledge_assertion manual_agent HGNC:11727 MONDO:0013879 NCBIGene:29110 biolink:gene_associated_with_condition MONDO:0971173 infores:ubergraph knowledge_assertion manual_agent HGNC:11584 MONDO:0971173 NCBIGene:55906 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:24931 MONDO:0020119 Definitive 2020-10-07T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64ba9cd6-bdfd-4b85-9bdd-1b317715230d-2020-10-07T100000.000Z XL X-linked 0001417 NCBIGene:523 biolink:gene_associated_with_condition MONDO:0027451 infores:clingen HGNC:851 MONDO:0027451 Limited 2024-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9b7d66a-3d77-4515-aa6b-9f33e59f2f09-2024-04-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2890 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4571 MONDO:0100038 Moderate 2024-02-08T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03597202-ca6c-4eb6-8531-59803753c382-2024-02-08T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:10297 biolink:gene_associated_with_condition MONDO:0018838 infores:clingen HGNC:24036 MONDO:0018838 Strong 2022-10-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fd2851a-bba3-47eb-a97c-e8bf51ec6766-2022-10-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:50485 biolink:gene_associated_with_condition MONDO:0009458 infores:clingen HGNC:11102 MONDO:0009458 Definitive 2021-07-30T13:05:48.284Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58700233-acb6-4ea8-911b-b3f474906aaa-2021-07-30T130548.284Z AR Autosomal Recessive 0000007 NCBIGene:7355 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:11022 MONDO:0100148 Definitive 2021-04-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8173aea-692d-4f50-aca4-228e3df16e80-2021-04-23T160000.000Z XL X-linked 0001417 NCBIGene:9949 biolink:gene_associated_with_condition MONDO:0010516 infores:ubergraph knowledge_assertion manual_agent HGNC:467 MONDO:0010516 NCBIGene:11277 biolink:gene_associated_with_condition MONDO:0700256 infores:clingen HGNC:12269 MONDO:0700256 Definitive 2024-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_568116cb-0de8-4917-9601-add0fc2a0f5b-2024-06-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:259266 biolink:gene_associated_with_condition MONDO:0012106 infores:ubergraph knowledge_assertion manual_agent HGNC:19048 MONDO:0012106 NCBIGene:1538 biolink:gene_associated_with_condition MONDO:0970943 infores:ubergraph knowledge_assertion manual_agent HGNC:2582 MONDO:0970943 NCBIGene:3425 biolink:gene_associated_with_condition MONDO:0001586 infores:clingen NCBIGene:3425 MONDO:0001586 Definitive 2020-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_042f8964-a8e1-4880-b873-73460088e8bf-2020-05-27T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:25814 biolink:gene_associated_with_condition MONDO:0011330 infores:ubergraph knowledge_assertion manual_agent HGNC:10549 MONDO:0011330 NCBIGene:1285 biolink:gene_associated_with_condition MONDO:0957811 infores:ubergraph knowledge_assertion manual_agent HGNC:2204 MONDO:0957811 NCBIGene:7084 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:11831 MONDO:0044970 Definitive 2023-09-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f1bc80d-2f35-4e45-ba17-a2ba34ee51de-2023-09-06T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:79133 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:79133 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:91574 biolink:gene_associated_with_condition MONDO:0013306 infores:ubergraph knowledge_assertion manual_agent HGNC:26784 MONDO:0013306 NCBIGene:2177 biolink:gene_associated_with_condition MONDO:0009214 infores:clingen NCBIGene:2177 MONDO:0009214 Definitive 2021-06-15T23:15:06.767Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f0c260f-52d2-4225-9044-608f066ccfb2-2021-06-15T231506.767Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:93953 biolink:gene_associated_with_condition MONDO:0024773 infores:ubergraph knowledge_assertion manual_agent HGNC:15805 MONDO:0024773 NCBIGene:4514 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7422 MONDO:0044970 Definitive 2023-03-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d58759e1-bf55-44f2-9a97-839a9360d156-2023-03-20T160000.000Z MT Mitochondrial 0001427 NCBIGene:7535 biolink:gene_associated_with_condition MONDO:0010023 infores:clingen HGNC:12858 MONDO:0010023 Definitive 2022-02-08T04:48:13.125Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_486c47d2-e5a9-4527-a2cc-aaa43cd5c42f-2022-02-08T044813.125Z AR Autosomal Recessive 0000007 NCBIGene:55630 biolink:gene_associated_with_condition MONDO:0008713 infores:ubergraph knowledge_assertion manual_agent HGNC:17129 MONDO:0008713 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:12403 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ec53217-814e-44b3-a7b7-0f18311c20f3-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7225 biolink:gene_associated_with_condition MONDO:0011390 infores:ubergraph knowledge_assertion manual_agent HGNC:12338 MONDO:0011390 NCBIGene:6736 biolink:gene_associated_with_condition MONDO:0100250 infores:ubergraph knowledge_assertion manual_agent HGNC:11311 MONDO:0100250 NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0010689 infores:ubergraph knowledge_assertion manual_agent HGNC:8768 MONDO:0010689 NCBIGene:124583 biolink:gene_associated_with_condition MONDO:0009629 infores:clingen NCBIGene:124583 MONDO:0009629 Definitive 2024-11-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30c64852-60e0-44ce-bf10-cf7af11b1fa9-2024-11-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6524 biolink:gene_associated_with_condition MONDO:0009297 infores:ubergraph knowledge_assertion manual_agent HGNC:11037 MONDO:0009297 NCBIGene:4771 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4771 MONDO:0700096 No evidence available 0 true NCBIGene:80217 biolink:gene_associated_with_condition MONDO:0054723 infores:ubergraph knowledge_assertion manual_agent HGNC:26684 MONDO:0054723 NCBIGene:161497 biolink:gene_associated_with_condition MONDO:0011364 infores:clingen NCBIGene:161497 MONDO:0011364 Gene associated with autosomal recessive phenotype 30 NCBIGene:3073 biolink:gene_associated_with_condition MONDO:0010100 infores:ubergraph knowledge_assertion manual_agent HGNC:4878 MONDO:0010100 NCBIGene:84705 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:14880 MONDO:0009723 Moderate 2020-02-12T20:32:56.857Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d1b0a47-e62d-48dd-8e0d-f2b1aff014a7-2020-02-12T203256.857Z AR Autosomal Recessive 0000007 NCBIGene:3741 biolink:gene_associated_with_condition MONDO:0012828 infores:ubergraph knowledge_assertion manual_agent HGNC:6224 MONDO:0012828 NCBIGene:388531 biolink:gene_associated_with_condition MONDO:0958190 infores:ubergraph knowledge_assertion manual_agent HGNC:30304 MONDO:0958190 NCBIGene:60529 biolink:gene_associated_with_condition MONDO:0013268 infores:ubergraph knowledge_assertion manual_agent HGNC:450 MONDO:0013268 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0013253 infores:clingen NCBIGene:5889 MONDO:0013253 Sufficient evidence for dosage pathogenicity 3 NCBIGene:83696 biolink:gene_associated_with_condition MONDO:0018123 infores:clingen HGNC:30832 MONDO:0018123 Definitive 2020-08-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_456bfabf-5cad-4a08-bf21-3611a6fbf9b1-2020-08-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79651 biolink:gene_associated_with_condition MONDO:0007856 infores:clingen HGNC:20788 MONDO:0007856 Definitive 2020-07-30T21:22:32.808Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7e72765-1a53-44fb-bfee-9e5923507bbe-2020-07-30T212232.808Z AD Autosomal Dominant 0000006 NCBIGene:7552 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:13128 MONDO:0100148 Definitive 2022-09-22T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80a6e42d-f8ce-4bce-8bb4-579b78c94d21-2022-09-22T100000.000Z XL X-linked 0001417 NCBIGene:284086 biolink:gene_associated_with_condition MONDO:0013444 infores:ubergraph knowledge_assertion manual_agent HGNC:13387 MONDO:0013444 NCBIGene:55145 biolink:gene_associated_with_condition MONDO:0011264 infores:ubergraph knowledge_assertion manual_agent HGNC:20856 MONDO:0011264 NCBIGene:1767 biolink:gene_associated_with_condition MONDO:0012085 infores:clingen NCBIGene:1767 MONDO:0012085 Definitive 2022-01-07T19:06:07.723Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4390dba1-012d-4e08-a841-ffc08ebdc737-2022-01-07T190607.723Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:55131 biolink:gene_associated_with_condition MONDO:0012794 infores:ubergraph knowledge_assertion manual_agent HGNC:21863 MONDO:0012794 NCBIGene:7021 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7021 MONDO:0700096 No evidence available 0 true NCBIGene:4595 biolink:gene_associated_with_condition MONDO:0012041 infores:ubergraph knowledge_assertion manual_agent HGNC:7527 MONDO:0012041 NCBIGene:2561 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4082 MONDO:0100038 Definitive 2024-01-16T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5589d3aa-cb45-4b9f-bf8e-2000d1a780bd-2024-01-16T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:60 MONDO:0015263 Disputed 2025-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c570e3b-1b32-4547-84a2-144db782025e-2025-10-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4719 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7707 MONDO:0044970 Definitive 2023-11-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_048cc8f0-7d27-4108-ada2-5454791c0bc5-2023-11-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2629 MONDO:0700096 No evidence available 0 true NCBIGene:5308 biolink:gene_associated_with_condition MONDO:0008386 infores:ubergraph knowledge_assertion manual_agent HGNC:9005 MONDO:0008386 NCBIGene:145226 biolink:gene_associated_with_condition MONDO:0800100 infores:ubergraph knowledge_assertion manual_agent HGNC:19977 MONDO:0800100 NCBIGene:8481 biolink:gene_associated_with_condition MONDO:0010702 infores:clingen NCBIGene:8481 MONDO:0010702 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2257 biolink:gene_associated_with_condition MONDO:0014949 infores:ubergraph knowledge_assertion manual_agent HGNC:3668 MONDO:0014949 NCBIGene:24 biolink:gene_associated_with_condition MONDO:0800406 infores:ubergraph knowledge_assertion manual_agent HGNC:34 MONDO:0800406 NCBIGene:256471 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:256471 MONDO:0700096 No evidence available 0 true NCBIGene:4751 biolink:gene_associated_with_condition MONDO:0014256 infores:ubergraph knowledge_assertion manual_agent HGNC:7745 MONDO:0014256 NCBIGene:55532 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55532 MONDO:0700096 No evidence available 0 true NCBIGene:79853 biolink:gene_associated_with_condition MONDO:0014184 infores:ubergraph knowledge_assertion manual_agent HGNC:26230 MONDO:0014184 NCBIGene:5178 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5178 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:65062 biolink:gene_associated_with_condition MONDO:0013745 infores:ubergraph knowledge_assertion manual_agent HGNC:14432 MONDO:0013745 NCBIGene:8604 biolink:gene_associated_with_condition MONDO:0013056 infores:ubergraph knowledge_assertion manual_agent HGNC:10982 MONDO:0013056 NCBIGene:728294 biolink:gene_associated_with_condition MONDO:0024554 infores:clingen NCBIGene:728294 MONDO:0024554 Gene associated with autosomal recessive phenotype 30 NCBIGene:27030 biolink:gene_associated_with_condition MONDO:0015185 infores:clingen HGNC:7128 MONDO:0015185 Limited 2024-11-04T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d54ad37-37e4-4321-a4b7-df423bde0943-2024-11-04T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:85478 biolink:gene_associated_with_condition MONDO:0014215 infores:clingen HGNC:29937 MONDO:0014215 Definitive 2024-08-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_662ab516-ba5f-46aa-97b2-ef4c8f3201a5-2024-08-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:22953 biolink:gene_associated_with_condition MONDO:0011994 infores:ubergraph knowledge_assertion manual_agent HGNC:15459 MONDO:0011994 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0009265 infores:ubergraph knowledge_assertion manual_agent HGNC:4177 MONDO:0009265 NCBIGene:317662 biolink:gene_associated_with_condition MONDO:0032902 infores:ubergraph knowledge_assertion manual_agent HGNC:29162 MONDO:0032902 NCBIGene:54880 biolink:gene_associated_with_condition MONDO:0010261 infores:clingen NCBIGene:54880 MONDO:0010261 Definitive 2020-12-17T17:13:47.861Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da06b77-1ed0-4197-948c-a9bbf80b6ed4-2020-12-17T171347.861Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:81575 biolink:gene_associated_with_condition MONDO:0021181 infores:clingen HGNC:25268 MONDO:0021181 Limited 2024-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b8a1833-03a5-4e71-9f31-974fcd6443f6-2024-02-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5332 biolink:gene_associated_with_condition MONDO:0013845 infores:clingen HGNC:9059 MONDO:0013845 Definitive 2023-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b419754b-72d5-4565-8213-b40051e3e60e-2023-06-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1184 biolink:gene_associated_with_condition MONDO:0010644 infores:ubergraph knowledge_assertion manual_agent HGNC:2023 MONDO:0010644 NCBIGene:124454 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:29419 MONDO:0009723 Definitive 2020-03-19T19:07:29.531Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_774e378c-2636-41ad-be48-a2c00328ab9c-2020-03-19T190729.531Z AR Autosomal Recessive 0000007 NCBIGene:7867 biolink:gene_associated_with_condition MONDO:0014920 infores:ubergraph knowledge_assertion manual_agent HGNC:6888 MONDO:0014920 NCBIGene:5728 biolink:gene_associated_with_condition MONDO:0011537 infores:ubergraph knowledge_assertion manual_agent HGNC:9588 MONDO:0011537 NCBIGene:4352 biolink:gene_associated_with_condition MONDO:0800452 infores:clingen HGNC:7217 MONDO:0800452 Definitive 2020-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97f51ea-0148-483b-a18e-e61ee2e30690-2020-07-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2153 biolink:gene_associated_with_condition MONDO:0008560 infores:ubergraph knowledge_assertion manual_agent HGNC:3542 MONDO:0008560 NCBIGene:9343 biolink:gene_associated_with_condition MONDO:0012516 infores:ubergraph knowledge_assertion manual_agent HGNC:30858 MONDO:0012516 NCBIGene:84153 biolink:gene_associated_with_condition MONDO:0700258 infores:ubergraph knowledge_assertion manual_agent HGNC:24116 MONDO:0700258 NCBIGene:2658 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2658 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1297 biolink:gene_associated_with_condition MONDO:0019354 infores:clingen HGNC:2217 MONDO:0019354 Limited 2018-03-26T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9807 AR Autosomal Recessive 0000007 NCBIGene:9422 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9422 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6576 biolink:gene_associated_with_condition MONDO:0032596 infores:ubergraph knowledge_assertion manual_agent HGNC:10979 MONDO:0032596 NCBIGene:5977 biolink:gene_associated_with_condition MONDO:0054831 infores:ubergraph knowledge_assertion manual_agent HGNC:9964 MONDO:0054831 NCBIGene:84340 biolink:gene_associated_with_condition MONDO:0032726 infores:ubergraph knowledge_assertion manual_agent HGNC:29682 MONDO:0032726 NCBIGene:54808 biolink:gene_associated_with_condition MONDO:0011814 infores:ubergraph knowledge_assertion manual_agent HGNC:21317 MONDO:0011814 NCBIGene:4838 biolink:gene_associated_with_condition MONDO:0700112 infores:ubergraph knowledge_assertion manual_agent HGNC:7865 MONDO:0700112 NCBIGene:8092 biolink:gene_associated_with_condition MONDO:0013271 infores:ubergraph knowledge_assertion manual_agent HGNC:1494 MONDO:0013271 NCBIGene:346007 biolink:gene_associated_with_condition MONDO:0800391 infores:clingen HGNC:21555 MONDO:0800391 Definitive 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f70860e-464d-4d26-aee0-07ef03e4da1b-2022-11-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:256764 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:256764 MONDO:0700096 No evidence available 0 true NCBIGene:149233 biolink:gene_associated_with_condition MONDO:0012840 infores:ubergraph knowledge_assertion manual_agent HGNC:19100 MONDO:0012840 NCBIGene:9969 biolink:gene_associated_with_condition MONDO:0032485 infores:ubergraph knowledge_assertion manual_agent HGNC:22474 MONDO:0032485 NCBIGene:6606 biolink:gene_associated_with_condition MONDO:0009669 infores:ubergraph knowledge_assertion manual_agent HGNC:11117 MONDO:0009669 NCBIGene:2271 biolink:gene_associated_with_condition MONDO:0007888 infores:ubergraph knowledge_assertion manual_agent HGNC:3700 MONDO:0007888 NCBIGene:4629 biolink:gene_associated_with_condition MONDO:0007568 infores:ubergraph knowledge_assertion manual_agent HGNC:7569 MONDO:0007568 NCBIGene:10529 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:16932 MONDO:0005021 Limited 2024-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29bc6c4f-3f2d-45e2-b796-a79616857094-2024-10-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2157 biolink:gene_associated_with_condition MONDO:0010602 infores:ubergraph knowledge_assertion manual_agent HGNC:3546 MONDO:0010602 NCBIGene:340533 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:29433 MONDO:0100148 Definitive 2020-02-04T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_191437ab-2e73-4a0b-a660-ab5eab4c1066-2020-02-04T230000.000Z XL X-linked 0001417 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0044675 infores:ubergraph knowledge_assertion manual_agent HGNC:6697 MONDO:0044675 NCBIGene:84919 biolink:gene_associated_with_condition MONDO:0014785 infores:ubergraph knowledge_assertion manual_agent HGNC:14951 MONDO:0014785 NCBIGene:6338 biolink:gene_associated_with_condition MONDO:0020607 infores:ubergraph knowledge_assertion manual_agent HGNC:10600 MONDO:0020607 NCBIGene:8270 biolink:gene_associated_with_condition MONDO:0033006 infores:ubergraph knowledge_assertion manual_agent HGNC:26058 MONDO:0033006 NCBIGene:57654 biolink:gene_associated_with_condition MONDO:0013834 infores:ubergraph knowledge_assertion manual_agent HGNC:29304 MONDO:0013834 NCBIGene:1733 biolink:gene_associated_with_condition MONDO:0030839 infores:ubergraph knowledge_assertion manual_agent HGNC:2883 MONDO:0030839 NCBIGene:1203 biolink:gene_associated_with_condition MONDO:0009745 infores:ubergraph knowledge_assertion manual_agent HGNC:2076 MONDO:0009745 NCBIGene:6532 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen HGNC:11050 MONDO:0005258 Disputed 2021-01-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc4b0612-0a53-4e36-b737-5c0f49a387a1-2021-01-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:54344 biolink:gene_associated_with_condition MONDO:0013049 infores:clingen NCBIGene:54344 MONDO:0013049 Moderate 2023-12-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76bcf111-b22b-4be4-8fe7-870c9744bf44-2023-12-06T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:341640 biolink:gene_associated_with_condition MONDO:0007410 infores:ubergraph knowledge_assertion manual_agent HGNC:25396 MONDO:0007410 NCBIGene:5184 biolink:gene_associated_with_condition MONDO:0008221 infores:clingen NCBIGene:5184 MONDO:0008221 Definitive 2025-04-01T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39a8e0bd-61aa-4e65-bb98-473d00e4a62b-2025-04-01T100000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:355 biolink:gene_associated_with_condition MONDO:0017979 infores:clingen NCBIGene:355 MONDO:0017979 true Little evidence for dosage pathogenicity 1 NCBIGene:4750 biolink:gene_associated_with_condition MONDO:0054750 infores:ubergraph knowledge_assertion manual_agent HGNC:7744 MONDO:0054750 NCBIGene:151254 biolink:gene_associated_with_condition MONDO:0030721 infores:ubergraph knowledge_assertion manual_agent HGNC:14438 MONDO:0030721 NCBIGene:3872 biolink:gene_associated_with_condition MONDO:0008174 infores:ubergraph knowledge_assertion manual_agent HGNC:6427 MONDO:0008174 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0008795 infores:ubergraph knowledge_assertion manual_agent HGNC:6180 MONDO:0008795 NCBIGene:23562 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23562 MONDO:0700096 No evidence available 0 true NCBIGene:5354 biolink:gene_associated_with_condition MONDO:0010714 infores:clingen NCBIGene:5354 MONDO:0010714 Definitive 2018-03-07T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1a44c5f-744e-4d02-a08f-e7c687531b21-2018-03-07T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3777 biolink:gene_associated_with_condition MONDO:0014136 infores:ubergraph knowledge_assertion manual_agent HGNC:6278 MONDO:0014136 NCBIGene:56606 biolink:gene_associated_with_condition MONDO:0012793 infores:ubergraph knowledge_assertion manual_agent HGNC:13446 MONDO:0012793 NCBIGene:121391 biolink:gene_associated_with_condition MONDO:0020717 infores:ubergraph knowledge_assertion manual_agent HGNC:28929 MONDO:0020717 NCBIGene:5375 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:9117 MONDO:0015626 Moderate 2025-05-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa4c5730-f807-45d7-afe7-573a3960916f-2025-05-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:146754 biolink:gene_associated_with_condition MONDO:0033671 infores:ubergraph knowledge_assertion manual_agent HGNC:2948 MONDO:0033671 NCBIGene:132884 biolink:gene_associated_with_condition MONDO:0009162 infores:clingen NCBIGene:132884 MONDO:0009162 Gene associated with autosomal recessive phenotype 30 NCBIGene:8898 biolink:gene_associated_with_condition MONDO:0011066 infores:clingen NCBIGene:8898 MONDO:0011066 Gene associated with autosomal recessive phenotype 30 NCBIGene:1745 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1745 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:54714 biolink:gene_associated_with_condition MONDO:0100446 infores:ubergraph knowledge_assertion manual_agent HGNC:2153 MONDO:0100446 NCBIGene:11315 biolink:gene_associated_with_condition MONDO:0011658 infores:ubergraph knowledge_assertion manual_agent HGNC:16369 MONDO:0011658 NCBIGene:6711 biolink:gene_associated_with_condition MONDO:0859178 infores:ubergraph knowledge_assertion manual_agent HGNC:11275 MONDO:0859178 NCBIGene:5830 biolink:gene_associated_with_condition MONDO:0100262 infores:ubergraph knowledge_assertion manual_agent HGNC:9719 MONDO:0100262 NCBIGene:23438 biolink:gene_associated_with_condition MONDO:0013972 infores:ubergraph knowledge_assertion manual_agent HGNC:4817 MONDO:0013972 NCBIGene:23181 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23181 MONDO:0700096 No evidence available 0 true NCBIGene:55814 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:13652 MONDO:0019497 Limited 2021-03-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d300a54b-171c-4445-a138-a24409e99aae-2021-03-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1776 biolink:gene_associated_with_condition MONDO:0013743 infores:ubergraph knowledge_assertion manual_agent HGNC:2959 MONDO:0013743 NCBIGene:60558 biolink:gene_associated_with_condition MONDO:0014895 infores:ubergraph knowledge_assertion manual_agent HGNC:25799 MONDO:0014895 NCBIGene:3481 biolink:gene_associated_with_condition MONDO:0014663 infores:clingen HGNC:5466 MONDO:0014663 Definitive 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39e89185-94a4-4f94-ae80-63df06bece69-2023-10-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2736 biolink:gene_associated_with_condition MONDO:0012563 infores:clingen NCBIGene:2736 MONDO:0012563 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1641 biolink:gene_associated_with_condition MONDO:0018838 infores:clingen HGNC:2714 MONDO:0018838 Definitive 2021-02-23T15:09:11.296Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b0d23d1-5ca6-4584-9d74-cf78ca21b0e1-2021-02-23T150911.296Z XL X-linked 0001417 NCBIGene:5081 biolink:gene_associated_with_condition MONDO:0018528 infores:clingen HGNC:8621 MONDO:0018528 Moderate 2024-03-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_684596b8-b8c4-40e5-8ab6-8b23cac49be5-2024-03-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:65217 MONDO:0700096 No evidence available 0 true NCBIGene:343637 biolink:gene_associated_with_condition MONDO:0008798 infores:ubergraph knowledge_assertion manual_agent HGNC:16175 MONDO:0008798 NCBIGene:845 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen NCBIGene:845 MONDO:0017990 Definitive 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_991ee32e-280d-4bea-a638-aa1b6fa6f781-2021-01-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:8526 biolink:gene_associated_with_condition MONDO:0014005 infores:ubergraph knowledge_assertion manual_agent HGNC:2852 MONDO:0014005 NCBIGene:59 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen NCBIGene:59 MONDO:0019625 true Little evidence for dosage pathogenicity 1 NCBIGene:4919 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:10256 MONDO:0019497 Limited 2022-06-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdee1ffc-d8bd-4188-acb6-5fad8f5902a6-2022-06-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:317719 biolink:gene_associated_with_condition MONDO:0014037 infores:ubergraph knowledge_assertion manual_agent HGNC:18829 MONDO:0014037 NCBIGene:54414 biolink:gene_associated_with_condition MONDO:0013303 infores:ubergraph knowledge_assertion manual_agent HGNC:18187 MONDO:0013303 NCBIGene:145173 biolink:gene_associated_with_condition MONDO:0009856 infores:ubergraph knowledge_assertion manual_agent HGNC:20207 MONDO:0009856 NCBIGene:79577 biolink:gene_associated_with_condition MONDO:0007767 infores:ubergraph knowledge_assertion manual_agent HGNC:16783 MONDO:0007767 NCBIGene:4221 biolink:gene_associated_with_condition MONDO:0007540 infores:ubergraph knowledge_assertion manual_agent HGNC:7010 MONDO:0007540 NCBIGene:476 biolink:gene_associated_with_condition MONDO:0054833 infores:ubergraph knowledge_assertion manual_agent HGNC:799 MONDO:0054833 NCBIGene:51227 biolink:gene_associated_with_condition MONDO:0033364 infores:ubergraph knowledge_assertion manual_agent HGNC:3046 MONDO:0033364 NCBIGene:2077 biolink:gene_associated_with_condition MONDO:0014956 infores:ubergraph knowledge_assertion manual_agent HGNC:3444 MONDO:0014956 NCBIGene:2175 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2175 MONDO:0700096 No evidence available 0 true NCBIGene:55780 biolink:gene_associated_with_condition MONDO:0020341 infores:clingen HGNC:21056 MONDO:0020341 Limited 2024-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9acacc58-f84e-4a2a-906c-8a35f58256c1-2024-07-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9409 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9409 MONDO:0700096 No evidence available 0 true NCBIGene:9150 biolink:gene_associated_with_condition MONDO:0011402 infores:ubergraph knowledge_assertion manual_agent HGNC:2498 MONDO:0011402 NCBIGene:253017 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen HGNC:27365 MONDO:0017990 Definitive 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6889dc44-eef0-4a4d-8fdb-aef2dc570f29-2021-01-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3762 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:6266 MONDO:0002442 Disputed 2020-12-15T00:26:41.568Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6fa6a520-ae6b-4638-a092-a61831d481bf-2020-12-15T002641.568Z AD Autosomal Dominant 0000006 NCBIGene:23533 biolink:gene_associated_with_condition MONDO:0014084 infores:clingen HGNC:30035 MONDO:0014084 Disputed 2025-04-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9876210c-07d1-48c9-997f-da98db372e14-2025-04-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2187 MONDO:0019497 Definitive 2023-11-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0665772a-ba94-4561-b597-364f7db7e4ca-2023-11-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:83990 biolink:gene_associated_with_condition MONDO:0012187 infores:ubergraph knowledge_assertion manual_agent HGNC:20473 MONDO:0012187 NCBIGene:2070 biolink:gene_associated_with_condition MONDO:0011541 infores:clingen HGNC:3522 MONDO:0011541 Limited 2025-02-05T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0a0bad-1f7a-402e-af19-a80453653b86-2025-02-05T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:2521 biolink:gene_associated_with_condition MONDO:0011951 infores:clingen HGNC:4010 MONDO:0011951 Definitive 2021-10-12T18:36:01.087Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2e8f55b-371e-438f-8923-73ca9b7ec034-2021-10-12T183601.087Z AD Autosomal Dominant 0000006 NCBIGene:1910 biolink:gene_associated_with_condition MONDO:0010895 infores:ubergraph knowledge_assertion manual_agent HGNC:3180 MONDO:0010895 NCBIGene:4537 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7458 MONDO:0044970 Definitive 2023-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aaf3f7-69d3-415d-be22-257ed21abbc1-2023-03-06T170000.000Z MT Mitochondrial 0001427 NCBIGene:29761 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:12624 MONDO:0005027 Disputed 2025-04-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_293a1f2e-c0ee-48b2-bfbb-1e4672a5ba79-2025-04-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10342 biolink:gene_associated_with_condition MONDO:0011468 infores:ubergraph knowledge_assertion manual_agent HGNC:11758 MONDO:0011468 NCBIGene:8314 biolink:gene_associated_with_condition MONDO:0011696 infores:ubergraph knowledge_assertion manual_agent HGNC:950 MONDO:0011696 NCBIGene:91801 biolink:gene_associated_with_condition MONDO:0032789 infores:ubergraph knowledge_assertion manual_agent HGNC:25189 MONDO:0032789 NCBIGene:641 biolink:gene_associated_with_condition MONDO:0005575 infores:clingen HGNC:1058 MONDO:0005575 Limited 2024-11-22T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37bc882f-34c6-4aea-afea-7b6f037ed9a7-2024-11-22T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:3077 biolink:gene_associated_with_condition MONDO:0021001 infores:clingen HGNC:4886 MONDO:0021001 Definitive 2025-06-27T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e843028-ac7e-43ad-b95d-28566b000b58-2025-06-27T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:26503 biolink:gene_associated_with_condition MONDO:0019366 infores:clingen NCBIGene:26503 MONDO:0019366 Definitive 2023-10-30T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfa5a3e8-f0f5-4cd8-93b4-0f81ceab1f6a-2023-10-30T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4550 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7471 MONDO:0044970 Limited 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5cd88bf-4d80-4d6f-b479-cd4a3725b039-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:54936 biolink:gene_associated_with_condition MONDO:0100095 infores:ubergraph knowledge_assertion manual_agent HGNC:21304 MONDO:0100095 NCBIGene:54885 biolink:gene_associated_with_condition MONDO:0026726 infores:ubergraph knowledge_assertion manual_agent HGNC:24715 MONDO:0026726 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:59 MONDO:0015967 Definitive 2022-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c0dfa5-c6ea-42fd-8118-be6ff97beb3e-2022-07-24T160000.000Z SD Semidominant 0032113 NCBIGene:80155 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80155 MONDO:0700096 No evidence available 0 true NCBIGene:6812 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6812 MONDO:0700096 No evidence available 0 true NCBIGene:4633 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:7583 MONDO:0016587 No Known Disease Relationship 2019-05-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1db17cf-199d-4bd7-9673-e8f06219fc26-2019-05-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:57534 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:21086 MONDO:0005021 Limited 2024-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97cecce-b9a7-42fb-bc2d-034468094949-2024-10-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4076 biolink:gene_associated_with_condition MONDO:0968945 infores:ubergraph knowledge_assertion manual_agent HGNC:6743 MONDO:0968945 NCBIGene:6521 biolink:gene_associated_with_condition MONDO:0008368 infores:ubergraph knowledge_assertion manual_agent HGNC:11027 MONDO:0008368 NCBIGene:5079 biolink:gene_associated_with_condition MONDO:0100299 infores:clingen HGNC:8619 MONDO:0100299 Moderate 2023-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_111b7453-55ff-4638-9cb7-1936400ec2a4-2023-02-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:388939 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:388939 MONDO:0700096 No evidence available 0 true NCBIGene:633 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:1044 MONDO:0019625 Limited 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8260 AD Autosomal Dominant 0000006 NCBIGene:9860 biolink:gene_associated_with_condition MONDO:0014049 infores:ubergraph knowledge_assertion manual_agent HGNC:20889 MONDO:0014049 NCBIGene:8567 biolink:gene_associated_with_condition MONDO:0033562 infores:ubergraph knowledge_assertion manual_agent HGNC:6766 MONDO:0033562 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0013517 infores:clingen HGNC:4827 MONDO:0013517 Definitive 2023-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10e10aac-d9cc-4422-8fb9-b206e642bb27-2023-04-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6096 biolink:gene_associated_with_condition MONDO:0032699 infores:ubergraph knowledge_assertion manual_agent HGNC:10259 MONDO:0032699 NCBIGene:5265 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5265 MONDO:0700096 No evidence available 0 true NCBIGene:23152 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23152 MONDO:0100038 Definitive 2023-01-18T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0f9a222-8872-4054-b767-25f8fb4e404a-2023-01-18T110000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4810 biolink:gene_associated_with_condition MONDO:0010544 infores:ubergraph knowledge_assertion manual_agent HGNC:7820 MONDO:0010544 NCBIGene:6535 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6535 MONDO:0700096 No evidence available 0 true NCBIGene:1457 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1457 MONDO:0700096 No evidence available 0 true NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0014843 infores:ubergraph knowledge_assertion manual_agent HGNC:3438 MONDO:0014843 NCBIGene:4088 biolink:gene_associated_with_condition MONDO:0013426 infores:clingen NCBIGene:4088 MONDO:0013426 Definitive 2016-12-01T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3210 AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9578 biolink:gene_associated_with_condition MONDO:0859239 infores:ubergraph knowledge_assertion manual_agent HGNC:1738 MONDO:0859239 NCBIGene:2301 biolink:gene_associated_with_condition MONDO:0013067 infores:ubergraph knowledge_assertion manual_agent HGNC:3808 MONDO:0013067 NCBIGene:57704 biolink:gene_associated_with_condition MONDO:0013737 infores:clingen NCBIGene:57704 MONDO:0013737 Gene associated with autosomal recessive phenotype 30 NCBIGene:4982 biolink:gene_associated_with_condition MONDO:0009394 infores:clingen NCBIGene:4982 MONDO:0009394 Gene associated with autosomal recessive phenotype 30 NCBIGene:7474 biolink:gene_associated_with_condition MONDO:0008389 infores:clingen HGNC:12784 MONDO:0008389 Moderate 2024-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fb2940f-f0e0-442c-beb8-72fc959d5a43-2024-04-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:56259 biolink:gene_associated_with_condition MONDO:0015517 infores:clingen HGNC:15879 MONDO:0015517 Limited 2022-05-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e151724-c8a5-4f3e-a7ac-bd0b1d180fae-2022-05-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1804 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1804 MONDO:0700096 No evidence available 0 true NCBIGene:1890 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:3148 MONDO:0044970 Definitive 2023-10-02T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4efaa60a-76b6-4f99-bf9d-1c91b2b3ce74-2023-10-02T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:145645 biolink:gene_associated_with_condition MONDO:0030492 infores:ubergraph knowledge_assertion manual_agent HGNC:28520 MONDO:0030492 NCBIGene:388939 biolink:gene_associated_with_condition MONDO:0013263 infores:clingen NCBIGene:388939 MONDO:0013263 Gene associated with autosomal recessive phenotype 30 NCBIGene:10560 biolink:gene_associated_with_condition MONDO:0009575 infores:ubergraph knowledge_assertion manual_agent HGNC:10938 MONDO:0009575 NCBIGene:64423 biolink:gene_associated_with_condition MONDO:0013758 infores:ubergraph knowledge_assertion manual_agent HGNC:23791 MONDO:0013758 NCBIGene:55209 biolink:gene_associated_with_condition MONDO:0014336 infores:clingen NCBIGene:55209 MONDO:0014336 Sufficient evidence for dosage pathogenicity 3 NCBIGene:346007 biolink:gene_associated_with_condition MONDO:0011272 infores:clingen NCBIGene:346007 MONDO:0011272 Gene associated with autosomal recessive phenotype 30 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0009267 infores:ubergraph knowledge_assertion manual_agent HGNC:4177 MONDO:0009267 NCBIGene:284119 biolink:gene_associated_with_condition MONDO:0013225 infores:ubergraph knowledge_assertion manual_agent HGNC:9688 MONDO:0013225 NCBIGene:4070 biolink:gene_associated_with_condition MONDO:0008777 infores:clingen NCBIGene:4070 MONDO:0008777 Gene associated with autosomal recessive phenotype 30 NCBIGene:4535 biolink:gene_associated_with_condition MONDO:0800038 infores:ubergraph knowledge_assertion manual_agent HGNC:7455 MONDO:0800038 NCBIGene:4627 biolink:gene_associated_with_condition MONDO:0011350 infores:ubergraph knowledge_assertion manual_agent HGNC:7579 MONDO:0011350 NCBIGene:4629 biolink:gene_associated_with_condition MONDO:0859157 infores:ubergraph knowledge_assertion manual_agent HGNC:7569 MONDO:0859157 NCBIGene:22880 biolink:gene_associated_with_condition MONDO:0030835 infores:ubergraph knowledge_assertion manual_agent HGNC:23573 MONDO:0030835 NCBIGene:6134 biolink:gene_associated_with_condition MONDO:0010449 infores:ubergraph knowledge_assertion manual_agent HGNC:10298 MONDO:0010449 NCBIGene:6711 biolink:gene_associated_with_condition MONDO:0859178 infores:clingen HGNC:11275 MONDO:0859178 Strong 2023-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96d77406-9cbb-471f-b16a-7f1fb2af2655-2023-12-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6605 biolink:gene_associated_with_condition MONDO:0014838 infores:ubergraph knowledge_assertion manual_agent HGNC:11109 MONDO:0014838 NCBIGene:27235 biolink:gene_associated_with_condition MONDO:0011829 infores:clingen NCBIGene:27235 MONDO:0011829 Gene associated with autosomal recessive phenotype 30 NCBIGene:57178 biolink:gene_associated_with_condition MONDO:0032855 infores:ubergraph knowledge_assertion manual_agent HGNC:16493 MONDO:0032855 NCBIGene:4763 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4763 MONDO:0700096 No evidence available 0 true NCBIGene:8242 biolink:gene_associated_with_condition MONDO:0010355 infores:ubergraph knowledge_assertion manual_agent HGNC:11114 MONDO:0010355 NCBIGene:5345 biolink:gene_associated_with_condition MONDO:0009883 infores:ubergraph knowledge_assertion manual_agent HGNC:9075 MONDO:0009883 NCBIGene:50937 biolink:gene_associated_with_condition MONDO:0013642 infores:ubergraph knowledge_assertion manual_agent HGNC:17104 MONDO:0013642 NCBIGene:6907 biolink:gene_associated_with_condition MONDO:0026731 infores:ubergraph knowledge_assertion manual_agent HGNC:11585 MONDO:0026731 NCBIGene:9780 biolink:gene_associated_with_condition MONDO:0008689 infores:clingen HGNC:28993 MONDO:0008689 Strong 2023-07-02T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a86cb1d-4eed-4c10-971f-4a9578cb12b1-2023-07-02T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:5321 biolink:gene_associated_with_condition MONDO:0018794 infores:clingen HGNC:9035 MONDO:0018794 Moderate 2024-11-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff7f6f85-cca7-4eb2-9957-9023c94402f0-2024-11-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1468 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10980 MONDO:0044970 Limited 2023-11-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ef30bfb-3f90-48f7-ac02-c8286461dfc0-2023-11-20T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:7474 biolink:gene_associated_with_condition MONDO:0024455 infores:ubergraph knowledge_assertion manual_agent HGNC:12784 MONDO:0024455 NCBIGene:2783 biolink:gene_associated_with_condition MONDO:0859185 infores:ubergraph knowledge_assertion manual_agent HGNC:4398 MONDO:0859185 NCBIGene:345275 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:345275 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:6905 biolink:gene_associated_with_condition MONDO:0009486 infores:ubergraph knowledge_assertion manual_agent HGNC:11582 MONDO:0009486 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0013956 infores:clingen HGNC:11362 MONDO:0013956 Definitive 2024-11-20T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac2fe8ac-e470-4fa3-b596-ad8e15d5b065-2024-11-20T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:132001 biolink:gene_associated_with_condition MONDO:0859323 infores:ubergraph knowledge_assertion manual_agent HGNC:25187 MONDO:0859323 NCBIGene:5264 biolink:gene_associated_with_condition MONDO:0100258 infores:clingen HGNC:8940 MONDO:0100258 Definitive 2020-02-07T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c50f8ab-65d8-493d-a800-52af1fa13339-2020-02-07T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0007269 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0007269 NCBIGene:55315 biolink:gene_associated_with_condition MONDO:0011273 infores:clingen HGNC:23096 MONDO:0011273 Definitive 2024-05-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdde7d77-09cc-4ef2-99eb-f9acd8c8df04-2024-05-07T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:286204 biolink:gene_associated_with_condition MONDO:0009063 infores:ubergraph knowledge_assertion manual_agent HGNC:18688 MONDO:0009063 NCBIGene:4722 biolink:gene_associated_with_condition MONDO:0032613 infores:ubergraph knowledge_assertion manual_agent HGNC:7710 MONDO:0032613 NCBIGene:5978 biolink:gene_associated_with_condition MONDO:0014779 infores:ubergraph knowledge_assertion manual_agent HGNC:9966 MONDO:0014779 NCBIGene:83473 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83473 MONDO:0700096 No evidence available 0 true NCBIGene:2137 biolink:gene_associated_with_condition MONDO:0033682 infores:ubergraph knowledge_assertion manual_agent HGNC:3518 MONDO:0033682 NCBIGene:3559 biolink:gene_associated_with_condition MONDO:0011664 infores:ubergraph knowledge_assertion manual_agent HGNC:6008 MONDO:0011664 NCBIGene:5261 biolink:gene_associated_with_condition MONDO:0013091 infores:ubergraph knowledge_assertion manual_agent HGNC:8931 MONDO:0013091 NCBIGene:288 biolink:gene_associated_with_condition MONDO:0014210 infores:ubergraph knowledge_assertion manual_agent HGNC:494 MONDO:0014210 NCBIGene:93587 biolink:gene_associated_with_condition MONDO:0000208 infores:ubergraph knowledge_assertion manual_agent HGNC:28403 MONDO:0000208 NCBIGene:5345 biolink:gene_associated_with_condition MONDO:0009883 infores:clingen HGNC:9075 MONDO:0009883 Definitive 2020-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa2353-ff89-41f1-b030-bde64517edbb-2020-09-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2038 biolink:gene_associated_with_condition MONDO:0012985 infores:clingen NCBIGene:2038 MONDO:0012985 Gene associated with autosomal recessive phenotype 30 NCBIGene:256297 biolink:gene_associated_with_condition MONDO:0014406 infores:ubergraph knowledge_assertion manual_agent HGNC:23734 MONDO:0014406 NCBIGene:11159 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11159 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:6756 biolink:gene_associated_with_condition MONDO:0859477 infores:ubergraph knowledge_assertion manual_agent HGNC:11335 MONDO:0859477 NCBIGene:192668 biolink:gene_associated_with_condition MONDO:0020642 infores:clingen HGNC:18525 MONDO:0020642 Limited 2024-03-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b3fd5b2-e89e-409a-9802-35cf6ac26913-2024-03-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55790 biolink:gene_associated_with_condition MONDO:0030029 infores:ubergraph knowledge_assertion manual_agent HGNC:24290 MONDO:0030029 NCBIGene:3035 biolink:gene_associated_with_condition MONDO:0013788 infores:ubergraph knowledge_assertion manual_agent HGNC:4816 MONDO:0013788 NCBIGene:84766 biolink:gene_associated_with_condition MONDO:0015131 infores:clingen HGNC:28657 MONDO:0015131 Limited 2024-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_404d2603-e070-4798-81b0-ebf683a76efe-2024-09-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:54977 biolink:gene_associated_with_condition MONDO:0008785 infores:ubergraph knowledge_assertion manual_agent HGNC:26054 MONDO:0008785 NCBIGene:79868 biolink:gene_associated_with_condition MONDO:0010472 infores:ubergraph knowledge_assertion manual_agent HGNC:30881 MONDO:0010472 NCBIGene:8241 biolink:gene_associated_with_condition MONDO:0010711 infores:ubergraph knowledge_assertion manual_agent HGNC:9896 MONDO:0010711 NCBIGene:7134 biolink:gene_associated_with_condition MONDO:0013195 infores:ubergraph knowledge_assertion manual_agent HGNC:11943 MONDO:0013195 NCBIGene:11154 biolink:gene_associated_with_condition MONDO:0013552 infores:ubergraph knowledge_assertion manual_agent HGNC:575 MONDO:0013552 NCBIGene:84572 biolink:gene_associated_with_condition MONDO:0009652 infores:ubergraph knowledge_assertion manual_agent HGNC:23026 MONDO:0009652 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen NCBIGene:4607 MONDO:0005045 Definitive 2021-10-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e65896e-33f5-439d-8749-aba08a539dd0-2021-10-07T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57647 biolink:gene_associated_with_condition MONDO:0032888 infores:ubergraph knowledge_assertion manual_agent HGNC:17210 MONDO:0032888 NCBIGene:84233 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25382 MONDO:0044970 Definitive 2024-08-22T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d388318-091b-4f1e-ba99-ef78619fa196-2024-08-22T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3561 biolink:gene_associated_with_condition MONDO:0010315 infores:clingen HGNC:6010 MONDO:0010315 Definitive 2021-04-22T19:11:03.318Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4a8be06-e082-47c7-b005-956b51424fd2-2021-04-22T191103.318Z XL X-linked 0001417 NCBIGene:7516 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:12829 MONDO:0016248 No Known Disease Relationship 2017-04-26T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8707 AD Autosomal Dominant 0000006 NCBIGene:5915 biolink:gene_associated_with_condition MONDO:0014229 infores:clingen HGNC:9865 MONDO:0014229 Definitive 2023-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fde1ee7-8deb-49e3-a335-0c47c5e77e52-2023-04-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4359 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:7225 MONDO:0015626 Definitive 2020-08-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11f638d2-d8d2-4fe4-ab79-acff5cf32a18-2020-08-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5745 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5745 MONDO:0700096 No evidence available 0 true NCBIGene:10159 biolink:gene_associated_with_condition MONDO:0026765 infores:ubergraph knowledge_assertion manual_agent HGNC:18305 MONDO:0026765 NCBIGene:8289 biolink:gene_associated_with_condition MONDO:0013819 infores:clingen NCBIGene:8289 MONDO:0013819 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2710 biolink:gene_associated_with_condition MONDO:0010613 infores:ubergraph knowledge_assertion manual_agent HGNC:4289 MONDO:0010613 NCBIGene:157657 biolink:gene_associated_with_condition MONDO:0013786 infores:ubergraph knowledge_assertion manual_agent HGNC:27232 MONDO:0013786 NCBIGene:23171 biolink:gene_associated_with_condition MONDO:0012728 infores:ubergraph knowledge_assertion manual_agent HGNC:28956 MONDO:0012728 NCBIGene:64241 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64241 MONDO:0700096 No evidence available 0 true NCBIGene:7161 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7161 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:79738 biolink:gene_associated_with_condition MONDO:0700237 infores:clingen HGNC:26291 MONDO:0700237 Definitive 2023-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9eb490e-1977-426e-ac7a-c507bbc38490-2023-08-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2255 biolink:gene_associated_with_condition MONDO:0600017 infores:ubergraph knowledge_assertion manual_agent HGNC:3666 MONDO:0600017 NCBIGene:6505 biolink:gene_associated_with_condition MONDO:0009110 infores:clingen HGNC:10939 MONDO:0009110 Limited 2022-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd6cc720-f37b-4abf-a887-8701ac805343-2022-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10229 biolink:gene_associated_with_condition MONDO:0014754 infores:ubergraph knowledge_assertion manual_agent HGNC:2244 MONDO:0014754 NCBIGene:5172 biolink:gene_associated_with_condition MONDO:0010134 infores:clingen HGNC:8818 MONDO:0010134 Definitive 2017-06-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49e794f4-8725-4499-a0a2-82591b42cab5-2017-06-07T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:8891 biolink:gene_associated_with_condition MONDO:0957871 infores:clingen HGNC:3259 MONDO:0957871 Definitive 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e68c2029-c69e-4874-a072-bf86ca148cdd-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8867 biolink:gene_associated_with_condition MONDO:0014233 infores:ubergraph knowledge_assertion manual_agent HGNC:11503 MONDO:0014233 NCBIGene:1134 biolink:gene_associated_with_condition MONDO:0011088 infores:ubergraph knowledge_assertion manual_agent HGNC:1955 MONDO:0011088 NCBIGene:36 biolink:gene_associated_with_condition MONDO:0012392 infores:ubergraph knowledge_assertion manual_agent HGNC:91 MONDO:0012392 NCBIGene:4281 biolink:gene_associated_with_condition MONDO:0010222 infores:ubergraph knowledge_assertion manual_agent HGNC:7095 MONDO:0010222 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0009734 infores:ubergraph knowledge_assertion manual_agent HGNC:59 MONDO:0009734 NCBIGene:1141 biolink:gene_associated_with_condition MONDO:0000030 infores:clingen HGNC:1962 MONDO:0000030 Definitive 2023-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed365ac2-8cfa-4ae9-8fef-323dd596a22f-2023-02-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1075 biolink:gene_associated_with_condition MONDO:0800465 infores:ubergraph knowledge_assertion manual_agent HGNC:2528 MONDO:0800465 NCBIGene:3040 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3040 MONDO:0700096 No evidence available 0 true NCBIGene:8085 biolink:gene_associated_with_condition MONDO:0007843 infores:ubergraph knowledge_assertion manual_agent HGNC:7133 MONDO:0007843 NCBIGene:1535 biolink:gene_associated_with_condition MONDO:0009308 infores:ubergraph knowledge_assertion manual_agent HGNC:2577 MONDO:0009308 NCBIGene:10991 biolink:gene_associated_with_condition MONDO:0030881 infores:ubergraph knowledge_assertion manual_agent HGNC:18044 MONDO:0030881 NCBIGene:79925 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:26293 MONDO:0016575 Definitive 2025-01-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e137eed5-fcd8-4497-a6dc-6651062d1cf3-2025-01-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2624 biolink:gene_associated_with_condition MONDO:0042982 infores:clingen HGNC:4171 MONDO:0042982 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c0449f7-e20b-4610-95ad-896eee265492-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:5681 biolink:gene_associated_with_condition MONDO:0975807 infores:ubergraph knowledge_assertion manual_agent HGNC:9529 MONDO:0975807 NCBIGene:6208 biolink:gene_associated_with_condition MONDO:0007925 infores:ubergraph knowledge_assertion manual_agent HGNC:10387 MONDO:0007925 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0018105 infores:clingen HGNC:12762 MONDO:0018105 Definitive 2018-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e81eeda-4dd0-431c-ad52-90304fb761c8-2018-04-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:404672 biolink:gene_associated_with_condition MONDO:0014619 infores:clingen NCBIGene:404672 MONDO:0014619 Gene associated with autosomal recessive phenotype 30 NCBIGene:4087 biolink:gene_associated_with_condition MONDO:0030500 infores:ubergraph knowledge_assertion manual_agent HGNC:6768 MONDO:0030500 NCBIGene:171019 biolink:gene_associated_with_condition MONDO:0859572 infores:ubergraph knowledge_assertion manual_agent HGNC:17111 MONDO:0859572 NCBIGene:79628 biolink:gene_associated_with_condition MONDO:0011113 infores:ubergraph knowledge_assertion manual_agent HGNC:29427 MONDO:0011113 NCBIGene:3753 biolink:gene_associated_with_condition MONDO:0013372 infores:clingen HGNC:6240 MONDO:0013372 Limited 2020-12-15T00:21:42.973Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_957550ae-d91c-49e7-be7c-ff5a13faa3ff-2020-12-15T002142.973Z AD Autosomal Dominant 0000006 NCBIGene:6900 biolink:gene_associated_with_condition MONDO:0014167 infores:ubergraph knowledge_assertion manual_agent HGNC:2172 MONDO:0014167 NCBIGene:1497 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1497 MONDO:0700096 No evidence available 0 true NCBIGene:9895 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9895 MONDO:0700096 No evidence available 0 true NCBIGene:23265 biolink:gene_associated_with_condition MONDO:0033658 infores:ubergraph knowledge_assertion manual_agent HGNC:23214 MONDO:0033658 NCBIGene:274 biolink:gene_associated_with_condition MONDO:0009709 infores:clingen NCBIGene:274 MONDO:0009709 Gene associated with autosomal recessive phenotype 30 NCBIGene:27249 biolink:gene_associated_with_condition MONDO:0700297 infores:ubergraph knowledge_assertion manual_agent HGNC:25221 MONDO:0700297 NCBIGene:51574 biolink:gene_associated_with_condition MONDO:0014031 infores:ubergraph knowledge_assertion manual_agent HGNC:24912 MONDO:0014031 NCBIGene:4854 biolink:gene_associated_with_condition MONDO:0012072 infores:ubergraph knowledge_assertion manual_agent HGNC:7883 MONDO:0012072 NCBIGene:3098 biolink:gene_associated_with_condition MONDO:0032807 infores:ubergraph knowledge_assertion manual_agent HGNC:4922 MONDO:0032807 NCBIGene:164656 biolink:gene_associated_with_condition MONDO:0008788 infores:ubergraph knowledge_assertion manual_agent HGNC:16517 MONDO:0008788 NCBIGene:51473 biolink:gene_associated_with_condition MONDO:0018816 infores:ubergraph knowledge_assertion manual_agent HGNC:18141 MONDO:0018816 NCBIGene:3181 biolink:gene_associated_with_condition MONDO:0014178 infores:ubergraph knowledge_assertion manual_agent HGNC:5033 MONDO:0014178 NCBIGene:84464 biolink:gene_associated_with_condition MONDO:0013499 infores:clingen HGNC:23845 MONDO:0013499 Definitive 2023-10-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab56e51d-64d2-49ba-a927-ab04e4a1e254-2023-10-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:56853 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen NCBIGene:56853 MONDO:0001071 true Little evidence for dosage pathogenicity 1 NCBIGene:90 biolink:gene_associated_with_condition MONDO:0007606 infores:clingen HGNC:171 MONDO:0007606 Definitive 2023-03-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0439e75f-fc1b-4841-8c9a-17f3568ce8a4-2023-03-01T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6391 biolink:gene_associated_with_condition MONDO:0011544 infores:ubergraph knowledge_assertion manual_agent HGNC:10682 MONDO:0011544 NCBIGene:358 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:633 MONDO:0015924 Limited 2021-01-11T14:55:19.495Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29eda804-13df-4fe9-bbb3-9494b11edc92-2021-01-11T145519.495Z AD Autosomal Dominant 0000006 NCBIGene:51259 biolink:gene_associated_with_condition MONDO:0975840 infores:ubergraph knowledge_assertion manual_agent HGNC:25018 MONDO:0975840 NCBIGene:6528 biolink:gene_associated_with_condition MONDO:0020716 infores:ubergraph knowledge_assertion manual_agent HGNC:11040 MONDO:0020716 NCBIGene:51067 biolink:gene_associated_with_condition MONDO:0013307 infores:ubergraph knowledge_assertion manual_agent HGNC:24249 MONDO:0013307 NCBIGene:6621 biolink:gene_associated_with_condition MONDO:0957791 infores:ubergraph knowledge_assertion manual_agent HGNC:11137 MONDO:0957791 NCBIGene:57505 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21022 MONDO:0044970 Definitive 2022-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_583e237c-18f6-4427-a04f-82ea0f020daf-2022-04-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7275 biolink:gene_associated_with_condition MONDO:0014522 infores:ubergraph knowledge_assertion manual_agent HGNC:12406 MONDO:0014522 NCBIGene:6508 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:11029 MONDO:0000453 Moderate 2020-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f6fcca-f8a9-47c2-bae9-a72df92f3bd1-2020-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:158584 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:26440 MONDO:0100148 Disputed 2025-06-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e737d0-2314-41df-baf3-ac3cf2b2bff8-2025-06-12T170000.000Z XL X-linked 0001417 NCBIGene:8621 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:8621 MONDO:0000508 Definitive 2021-12-31T22:57:20.705Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c594bcfa-2b2c-425a-8285-74bae8e01da8-2021-12-31T225720.705Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:26353 biolink:gene_associated_with_condition MONDO:0008025 infores:ubergraph knowledge_assertion manual_agent HGNC:30171 MONDO:0008025 NCBIGene:4358 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7224 MONDO:0044970 Definitive 2022-07-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc7c6e4d-1a22-4ab4-b1d5-8de6bcc3b961-2022-07-21T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:7543 biolink:gene_associated_with_condition MONDO:0958322 infores:ubergraph knowledge_assertion manual_agent HGNC:12869 MONDO:0958322 NCBIGene:7547 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7547 MONDO:0700096 No evidence available 0 true NCBIGene:999 biolink:gene_associated_with_condition MONDO:0007648 infores:clingen NCBIGene:999 MONDO:0007648 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29110 biolink:gene_associated_with_condition MONDO:0014641 infores:clingen HGNC:11584 MONDO:0014641 Definitive 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_509b9e29-d354-4974-96e9-e819c3fee579-2022-11-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:25970 biolink:gene_associated_with_condition MONDO:0017994 infores:ubergraph knowledge_assertion manual_agent HGNC:30417 MONDO:0017994 NCBIGene:2158 biolink:gene_associated_with_condition MONDO:0010432 infores:clingen HGNC:3551 MONDO:0010432 Limited 2023-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b3a7f2c-a07a-4a10-b1f7-78642ebdaa5d-2023-11-06T170000.000Z XL X-linked 0001417 NCBIGene:57158 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:14202 MONDO:0005045 Moderate 2022-10-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_378a727d-0c5b-4563-9c96-ac18a2902742-2022-10-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3717 biolink:gene_associated_with_condition MONDO:0013794 infores:ubergraph knowledge_assertion manual_agent HGNC:6192 MONDO:0013794 NCBIGene:5892 biolink:gene_associated_with_condition MONDO:0700274 infores:ubergraph knowledge_assertion manual_agent HGNC:9823 MONDO:0700274 NCBIGene:51684 biolink:gene_associated_with_condition MONDO:0958189 infores:ubergraph knowledge_assertion manual_agent HGNC:16466 MONDO:0958189 NCBIGene:153562 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:153562 MONDO:0700096 No evidence available 0 true NCBIGene:3718 biolink:gene_associated_with_condition MONDO:0010938 infores:ubergraph knowledge_assertion manual_agent HGNC:6193 MONDO:0010938 NCBIGene:23209 biolink:gene_associated_with_condition MONDO:0024555 infores:ubergraph knowledge_assertion manual_agent HGNC:17082 MONDO:0024555 NCBIGene:8449 biolink:gene_associated_with_condition MONDO:0032890 infores:ubergraph knowledge_assertion manual_agent HGNC:2739 MONDO:0032890 NCBIGene:79621 biolink:gene_associated_with_condition MONDO:0700257 infores:clingen HGNC:25671 MONDO:0700257 Definitive 2025-01-10T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf20855e-de5b-4298-b709-bce27fdfd75b-2025-01-10T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:16 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:16 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1213 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1213 MONDO:0700096 No evidence available 0 true NCBIGene:55640 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55640 MONDO:0700096 No evidence available 0 true NCBIGene:22884 biolink:gene_associated_with_condition MONDO:0032850 infores:ubergraph knowledge_assertion manual_agent HGNC:31406 MONDO:0032850 NCBIGene:3315 biolink:gene_associated_with_condition MONDO:0012080 infores:ubergraph knowledge_assertion manual_agent HGNC:5246 MONDO:0012080 NCBIGene:8546 biolink:gene_associated_with_condition MONDO:0011997 infores:clingen HGNC:566 MONDO:0011997 Definitive 2020-02-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00ce813c-9493-48f9-9351-b70defb71d75-2020-02-26T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:388551 biolink:gene_associated_with_condition MONDO:0013823 infores:ubergraph knowledge_assertion manual_agent HGNC:31948 MONDO:0013823 NCBIGene:27107 biolink:gene_associated_with_condition MONDO:0032715 infores:ubergraph knowledge_assertion manual_agent HGNC:16740 MONDO:0032715 NCBIGene:29958 biolink:gene_associated_with_condition MONDO:0011610 infores:ubergraph knowledge_assertion manual_agent HGNC:24475 MONDO:0011610 NCBIGene:10095 biolink:gene_associated_with_condition MONDO:0060583 infores:ubergraph knowledge_assertion manual_agent HGNC:704 MONDO:0060583 NCBIGene:356 biolink:gene_associated_with_condition MONDO:0011158 infores:clingen NCBIGene:356 MONDO:0011158 Definitive 2024-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41cb5abc-acba-4838-8965-2051c4a9e9ca-2024-06-07T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51111 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51111 MONDO:0700096 No evidence available 0 true NCBIGene:3516 biolink:gene_associated_with_condition MONDO:0013895 infores:ubergraph knowledge_assertion manual_agent HGNC:5724 MONDO:0013895 NCBIGene:23511 biolink:gene_associated_with_condition MONDO:0032926 infores:clingen HGNC:17859 MONDO:0032926 Definitive 2025-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a43556ed-7b24-455b-b476-a0f81c8cfef6-2025-05-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9636 biolink:gene_associated_with_condition MONDO:0014502 infores:ubergraph knowledge_assertion manual_agent HGNC:4053 MONDO:0014502 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0013427 infores:clingen HGNC:11362 MONDO:0013427 Definitive 2024-10-06T09:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3240fac3-4738-4cd5-9923-bd1ca1896b07-2024-10-06T090000.000Z AR Autosomal Recessive 0000007 NCBIGene:9378 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:9378 MONDO:0100038 Definitive 2019-07-10T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14bb833a-eefd-4f02-b112-c74b6866d5be-2019-07-10T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6785 biolink:gene_associated_with_condition MONDO:0013760 infores:ubergraph knowledge_assertion manual_agent HGNC:14415 MONDO:0013760 NCBIGene:9125 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:10445 MONDO:0100038 Limited 2025-03-31T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ed830a6-af3b-44a4-9a84-bd8feb175ed4-2025-03-31T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:91647 biolink:gene_associated_with_condition MONDO:0011421 infores:clingen NCBIGene:91647 MONDO:0011421 Gene associated with autosomal recessive phenotype 30 NCBIGene:488 biolink:gene_associated_with_condition MONDO:0007048 infores:ubergraph knowledge_assertion manual_agent HGNC:812 MONDO:0007048 NCBIGene:8557 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:11610 MONDO:0005045 Disputed 2022-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c35abc20-c04c-49ec-af02-1bd270b0b50b-2022-09-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9200 biolink:gene_associated_with_condition MONDO:0859264 infores:ubergraph knowledge_assertion manual_agent HGNC:9639 MONDO:0859264 NCBIGene:57709 biolink:gene_associated_with_condition MONDO:0014323 infores:ubergraph knowledge_assertion manual_agent HGNC:29326 MONDO:0014323 NCBIGene:10059 biolink:gene_associated_with_condition MONDO:0054865 infores:clingen HGNC:2973 MONDO:0054865 Definitive 2022-04-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_320f4ab3-19c3-458e-9e81-0f380cbfebbd-2022-04-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:805 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen NCBIGene:805 MONDO:0017990 Moderate 2021-06-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42d280da-accc-46f2-8832-47d5a3eeeba7-2021-06-17T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:114902 biolink:gene_associated_with_condition MONDO:0011579 infores:ubergraph knowledge_assertion manual_agent HGNC:14344 MONDO:0011579 NCBIGene:7248 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7248 MONDO:0700096 No evidence available 0 true NCBIGene:8626 biolink:gene_associated_with_condition MONDO:0029145 infores:ubergraph knowledge_assertion manual_agent HGNC:15979 MONDO:0029145 NCBIGene:7248 biolink:gene_associated_with_condition MONDO:0008612 infores:ubergraph knowledge_assertion manual_agent HGNC:12362 MONDO:0008612 NCBIGene:4921 biolink:gene_associated_with_condition MONDO:0010077 infores:clingen HGNC:2731 MONDO:0010077 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac98a8f4-fedc-425d-ae43-ff4ef848b765-2023-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0011151 infores:clingen NCBIGene:4041 MONDO:0011151 true Little evidence for dosage pathogenicity 1 NCBIGene:196528 biolink:gene_associated_with_condition MONDO:0033492 infores:clingen NCBIGene:196528 MONDO:0033492 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55182 biolink:gene_associated_with_condition MONDO:0030514 infores:ubergraph knowledge_assertion manual_agent HGNC:25552 MONDO:0030514 NCBIGene:55612 biolink:gene_associated_with_condition MONDO:0008260 infores:ubergraph knowledge_assertion manual_agent HGNC:15889 MONDO:0008260 NCBIGene:170692 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:170692 MONDO:0700096 No evidence available 0 true NCBIGene:79188 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79188 MONDO:0700096 No evidence available 0 true NCBIGene:81704 biolink:gene_associated_with_condition MONDO:0009478 infores:clingen NCBIGene:81704 MONDO:0009478 Definitive 2021-04-09T14:29:17.716Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07811d37-10c8-44dd-88b2-a2b574e59ac4-2021-04-09T142917.716Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:801 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:801 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:56945 biolink:gene_associated_with_condition MONDO:0012718 infores:ubergraph knowledge_assertion manual_agent HGNC:14508 MONDO:0012718 NCBIGene:158326 biolink:gene_associated_with_condition MONDO:0009560 infores:ubergraph knowledge_assertion manual_agent HGNC:23399 MONDO:0009560 NCBIGene:8292 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8292 MONDO:0700096 No evidence available 0 true NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0030967 infores:ubergraph knowledge_assertion manual_agent HGNC:6215 MONDO:0030967 NCBIGene:25793 biolink:gene_associated_with_condition MONDO:0009830 infores:ubergraph knowledge_assertion manual_agent HGNC:13586 MONDO:0009830 NCBIGene:55023 biolink:gene_associated_with_condition MONDO:0035133 infores:ubergraph knowledge_assertion manual_agent HGNC:15673 MONDO:0035133 NCBIGene:54676 biolink:gene_associated_with_condition MONDO:0060711 infores:ubergraph knowledge_assertion manual_agent HGNC:4670 MONDO:0060711 NCBIGene:23394 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23394 MONDO:0700096 No evidence available 0 true NCBIGene:23483 biolink:gene_associated_with_condition MONDO:0014507 infores:clingen HGNC:20324 MONDO:0014507 Definitive 2024-07-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_394662b6-d975-4041-a9ea-308f0d6e1bee-2024-07-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:92579 biolink:gene_associated_with_condition MONDO:0012930 infores:clingen NCBIGene:92579 MONDO:0012930 Definitive 2024-08-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff1ec187-3779-4437-b17b-fa406fafc406-2024-08-07T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10749 biolink:gene_associated_with_condition MONDO:0012651 infores:ubergraph knowledge_assertion manual_agent HGNC:6317 MONDO:0012651 NCBIGene:117531 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:16513 MONDO:0019497 Definitive 2018-06-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_966d2fa1-5245-420d-9bf0-4a36aab29d74-2018-06-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23498 biolink:gene_associated_with_condition MONDO:0060554 infores:clingen HGNC:4796 MONDO:0060554 Definitive 2022-06-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89484d6b-0af1-4b77-9dcb-95c18331e3b7-2022-06-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:286262 biolink:gene_associated_with_condition MONDO:0013215 infores:clingen NCBIGene:286262 MONDO:0013215 Gene associated with autosomal recessive phenotype 30 NCBIGene:3643 biolink:gene_associated_with_condition MONDO:0009874 infores:ubergraph knowledge_assertion manual_agent HGNC:6091 MONDO:0009874 NCBIGene:5660 biolink:gene_associated_with_condition MONDO:0859183 infores:ubergraph knowledge_assertion manual_agent HGNC:9498 MONDO:0859183 NCBIGene:29123 biolink:gene_associated_with_condition MONDO:0007846 infores:ubergraph knowledge_assertion manual_agent HGNC:21316 MONDO:0007846 NCBIGene:4598 biolink:gene_associated_with_condition MONDO:0008293 infores:ubergraph knowledge_assertion manual_agent HGNC:7530 MONDO:0008293 NCBIGene:124454 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:29419 MONDO:0044970 Definitive 2024-09-19T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f85a9564-c49e-49f7-abd3-f3f022c9211a-2024-09-19T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:2122 biolink:gene_associated_with_condition MONDO:0100458 infores:clingen HGNC:3498 MONDO:0100458 Definitive 2021-11-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d25a48-f664-49c6-8ea4-dfddd0651209-2021-11-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0011723 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0011723 NCBIGene:1380 biolink:gene_associated_with_condition MONDO:0013862 infores:clingen HGNC:2336 MONDO:0013862 Definitive 2021-08-03T13:00:56.511Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9153b41e-f2ef-453d-883b-187565cf4593-2021-08-03T130056.511Z AR Autosomal Recessive 0000007 NCBIGene:57231 biolink:gene_associated_with_condition MONDO:0014601 infores:ubergraph knowledge_assertion manual_agent HGNC:14977 MONDO:0014601 NCBIGene:122402 biolink:gene_associated_with_condition MONDO:0020851 infores:ubergraph knowledge_assertion manual_agent HGNC:20122 MONDO:0020851 NCBIGene:815 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:1460 MONDO:0100038 Definitive 2024-10-15T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82e77410-49d7-41b8-a5b8-278afac7dc26-2024-10-15T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:100820829 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:43444 MONDO:0005021 Moderate 2024-08-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_587dc3e6-fc9e-4802-8370-cbff25731f45-2024-08-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79583 biolink:gene_associated_with_condition MONDO:0013994 infores:ubergraph knowledge_assertion manual_agent HGNC:37234 MONDO:0013994 NCBIGene:4131 biolink:gene_associated_with_condition MONDO:0030061 infores:ubergraph knowledge_assertion manual_agent HGNC:6836 MONDO:0030061 NCBIGene:6550 biolink:gene_associated_with_condition MONDO:0014808 infores:ubergraph knowledge_assertion manual_agent HGNC:11073 MONDO:0014808 NCBIGene:11011 biolink:gene_associated_with_condition MONDO:0054837 infores:ubergraph knowledge_assertion manual_agent HGNC:11842 MONDO:0054837 NCBIGene:29899 biolink:gene_associated_with_condition MONDO:0011411 infores:ubergraph knowledge_assertion manual_agent HGNC:29501 MONDO:0011411 NCBIGene:7552 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7552 MONDO:0700096 No evidence available 0 true NCBIGene:84189 biolink:gene_associated_with_condition MONDO:0009082 infores:ubergraph knowledge_assertion manual_agent HGNC:23503 MONDO:0009082 NCBIGene:64787 biolink:gene_associated_with_condition MONDO:0033198 infores:ubergraph knowledge_assertion manual_agent HGNC:21296 MONDO:0033198 NCBIGene:999 biolink:gene_associated_with_condition MONDO:0100488 infores:ubergraph knowledge_assertion manual_agent HGNC:1748 MONDO:0100488 NCBIGene:5826 biolink:gene_associated_with_condition MONDO:0013925 infores:clingen HGNC:68 MONDO:0013925 Moderate 2023-12-22T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_902c9288-f6bd-4068-9a5f-652b49583d93-2023-12-22T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:23241 biolink:gene_associated_with_condition MONDO:0054845 infores:ubergraph knowledge_assertion manual_agent HGNC:23794 MONDO:0054845 NCBIGene:9378 biolink:gene_associated_with_condition MONDO:0013690 infores:ubergraph knowledge_assertion manual_agent HGNC:8008 MONDO:0013690 NCBIGene:4883 biolink:gene_associated_with_condition MONDO:0859194 infores:ubergraph knowledge_assertion manual_agent HGNC:7945 MONDO:0859194 NCBIGene:117155 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:117155 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:375790 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:375790 MONDO:0700096 No evidence available 0 true NCBIGene:6615 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:11128 MONDO:0005453 Limited 2024-10-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4331c822-c5ff-4211-aef7-6004c99d95d1-2024-10-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:123872 biolink:gene_associated_with_condition MONDO:0013174 infores:ubergraph knowledge_assertion manual_agent HGNC:30539 MONDO:0013174 NCBIGene:4867 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4867 MONDO:0700096 No evidence available 0 true NCBIGene:545 biolink:gene_associated_with_condition MONDO:0013806 infores:clingen NCBIGene:545 MONDO:0013806 true Little evidence for dosage pathogenicity 1 NCBIGene:57410 biolink:gene_associated_with_condition MONDO:0014744 infores:ubergraph knowledge_assertion manual_agent HGNC:14372 MONDO:0014744 NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0019570 infores:ubergraph knowledge_assertion manual_agent HGNC:3438 MONDO:0019570 NCBIGene:64840 biolink:gene_associated_with_condition MONDO:0010592 infores:clingen NCBIGene:64840 MONDO:0010592 Definitive 2020-08-05T12:44:32.168Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fc3afa-d10d-4239-885f-24e91cbb31a8-2020-08-05T124432.168Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51324 biolink:gene_associated_with_condition MONDO:0009568 infores:clingen NCBIGene:51324 MONDO:0009568 Gene associated with autosomal recessive phenotype 30 NCBIGene:9928 biolink:gene_associated_with_condition MONDO:0014552 infores:ubergraph knowledge_assertion manual_agent HGNC:19181 MONDO:0014552 NCBIGene:7286 biolink:gene_associated_with_condition MONDO:0957307 infores:ubergraph knowledge_assertion manual_agent HGNC:12422 MONDO:0957307 NCBIGene:1355 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2263 MONDO:0044970 Definitive 2023-12-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f825de2-a93c-4f96-b1e5-7b2843c668ee-2023-12-04T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:1161 biolink:gene_associated_with_condition MONDO:0019569 infores:ubergraph knowledge_assertion manual_agent HGNC:3439 MONDO:0019569 NCBIGene:594 biolink:gene_associated_with_condition MONDO:0023692 infores:clingen HGNC:987 MONDO:0023692 Definitive 2019-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0d314c-7355-441c-a357-72ba3e566c57-2019-02-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7173 biolink:gene_associated_with_condition MONDO:0010133 infores:ubergraph knowledge_assertion manual_agent HGNC:12015 MONDO:0010133 NCBIGene:10472 biolink:gene_associated_with_condition MONDO:0012869 infores:ubergraph knowledge_assertion manual_agent HGNC:13030 MONDO:0012869 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5167 MONDO:0700096 No evidence available 0 true NCBIGene:129285 biolink:gene_associated_with_condition MONDO:0859165 infores:ubergraph knowledge_assertion manual_agent HGNC:30595 MONDO:0859165 NCBIGene:7414 biolink:gene_associated_with_condition MONDO:0013200 infores:ubergraph knowledge_assertion manual_agent HGNC:12665 MONDO:0013200 NCBIGene:8912 biolink:gene_associated_with_condition MONDO:0012763 infores:ubergraph knowledge_assertion manual_agent HGNC:1395 MONDO:0012763 NCBIGene:9885 biolink:gene_associated_with_condition MONDO:0014594 infores:ubergraph knowledge_assertion manual_agent HGNC:15761 MONDO:0014594 NCBIGene:9319 biolink:gene_associated_with_condition MONDO:0033565 infores:ubergraph knowledge_assertion manual_agent HGNC:12307 MONDO:0033565 NCBIGene:6340 biolink:gene_associated_with_condition MONDO:0008323 infores:clingen HGNC:10602 MONDO:0008323 Definitive 2021-06-17T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60ce148e-eb8b-49c4-adec-ae98071f9cc2-2021-06-17T023000.000Z AD Autosomal Dominant 0000006 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0100596 infores:clingen HGNC:2198 MONDO:0100596 Definitive 2022-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d67b74d4-3c39-4632-9eba-106b99230f37-2022-12-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:718 biolink:gene_associated_with_condition MONDO:0012659 infores:ubergraph knowledge_assertion manual_agent HGNC:1318 MONDO:0012659 NCBIGene:55384 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55384 MONDO:0700096 No evidence available 0 true NCBIGene:2196 biolink:gene_associated_with_condition MONDO:0033480 infores:ubergraph knowledge_assertion manual_agent HGNC:3596 MONDO:0033480 NCBIGene:80232 biolink:gene_associated_with_condition MONDO:0054636 infores:ubergraph knowledge_assertion manual_agent HGNC:21208 MONDO:0054636 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0012258 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0012258 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0024562 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0024562 NCBIGene:100 biolink:gene_associated_with_condition MONDO:0007064 infores:ubergraph knowledge_assertion manual_agent HGNC:186 MONDO:0007064 NCBIGene:27031 biolink:gene_associated_with_condition MONDO:0019005 infores:clingen HGNC:7907 MONDO:0019005 Definitive 2021-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47c3a0f1-9c14-4c92-83f2-e1105d528097-2021-07-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6497 biolink:gene_associated_with_condition MONDO:0008426 infores:ubergraph knowledge_assertion manual_agent HGNC:10896 MONDO:0008426 NCBIGene:199221 biolink:gene_associated_with_condition MONDO:0009889 infores:clingen HGNC:26551 MONDO:0009889 Definitive 2024-03-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1e2d1d2-b77c-4f1a-b185-31e3a95aae9b-2024-03-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84559 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84559 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:63908 biolink:gene_associated_with_condition MONDO:0031055 infores:ubergraph knowledge_assertion manual_agent HGNC:15751 MONDO:0031055 NCBIGene:6658 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6658 MONDO:0700096 true No evidence available 0 NCBIGene:163183 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26703 MONDO:0019497 Moderate 2020-02-06T17:10:16.249Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ba8e80d-ccfe-4c9d-a2a9-6abaa9dfacc6-2020-02-06T171016.249Z AR Autosomal Recessive 0000007 NCBIGene:6573 biolink:gene_associated_with_condition MONDO:0957955 infores:clingen HGNC:10937 MONDO:0957955 Limited 2025-09-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90119a3d-be3f-42bd-9ce2-24731b29bca9-2025-09-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7399 biolink:gene_associated_with_condition MONDO:0010169 infores:clingen NCBIGene:7399 MONDO:0010169 Gene associated with autosomal recessive phenotype 30 NCBIGene:90993 biolink:gene_associated_with_condition MONDO:0014544 infores:ubergraph knowledge_assertion manual_agent HGNC:18856 MONDO:0014544 NCBIGene:29887 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29887 MONDO:0700096 No evidence available 0 true NCBIGene:529 biolink:gene_associated_with_condition MONDO:0027462 infores:ubergraph knowledge_assertion manual_agent HGNC:857 MONDO:0027462 NCBIGene:93589 biolink:gene_associated_with_condition MONDO:0700244 infores:clingen HGNC:20202 MONDO:0700244 Definitive 2023-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f413ef18-b8cf-44c3-abde-b7533e1dd54f-2023-03-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6928 biolink:gene_associated_with_condition MONDO:0007669 infores:ubergraph knowledge_assertion manual_agent HGNC:11630 MONDO:0007669 NCBIGene:6154 biolink:gene_associated_with_condition MONDO:0013964 infores:ubergraph knowledge_assertion manual_agent HGNC:10327 MONDO:0013964 NCBIGene:1834 biolink:gene_associated_with_condition MONDO:0007437 infores:ubergraph knowledge_assertion manual_agent HGNC:3054 MONDO:0007437 NCBIGene:1687 biolink:gene_associated_with_condition MONDO:0010973 infores:ubergraph knowledge_assertion manual_agent HGNC:2810 MONDO:0010973 NCBIGene:920 biolink:gene_associated_with_condition MONDO:0030981 infores:ubergraph knowledge_assertion manual_agent HGNC:1678 MONDO:0030981 NCBIGene:8091 biolink:gene_associated_with_condition MONDO:0020795 infores:clingen NCBIGene:8091 MONDO:0020795 Definitive 2025-06-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_787996f0-15fe-4c59-856a-119c792e9674-2025-06-20T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:7414 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:12665 MONDO:0005045 Disputed 2023-05-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27365fd2-1203-4e2b-8830-3277e965d8bc-2023-05-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:286262 biolink:gene_associated_with_condition MONDO:0013215 infores:ubergraph knowledge_assertion manual_agent HGNC:26894 MONDO:0013215 NCBIGene:6310 biolink:gene_associated_with_condition MONDO:0008119 infores:ubergraph knowledge_assertion manual_agent HGNC:10548 MONDO:0008119 NCBIGene:22909 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:29170 MONDO:0018630 Limited 2017-10-23T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9863 AD Autosomal Dominant 0000006 NCBIGene:9517 biolink:gene_associated_with_condition MONDO:0013337 infores:clingen HGNC:11278 MONDO:0013337 Definitive 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2294e1cf-3aad-471e-a360-9f6f8c3b4d8f-2023-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0015369 infores:clingen NCBIGene:91147 MONDO:0015369 Gene associated with autosomal recessive phenotype 30 NCBIGene:672 biolink:gene_associated_with_condition MONDO:0700268 infores:clingen NCBIGene:672 MONDO:0700268 Definitive 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f31f200-3b65-4cfd-80c8-bd7d3cc216b8-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29958 biolink:gene_associated_with_condition MONDO:0011610 infores:clingen HGNC:24475 MONDO:0011610 Limited 2022-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b181250b-bc72-43b7-adec-5b85860b1a62-2022-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1834 biolink:gene_associated_with_condition MONDO:0007442 infores:ubergraph knowledge_assertion manual_agent HGNC:3054 MONDO:0007442 NCBIGene:2615 biolink:gene_associated_with_condition MONDO:0033641 infores:ubergraph knowledge_assertion manual_agent HGNC:4161 MONDO:0033641 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0012805 infores:ubergraph knowledge_assertion manual_agent HGNC:11005 MONDO:0012805 NCBIGene:84529 biolink:gene_associated_with_condition MONDO:0014285 infores:ubergraph knowledge_assertion manual_agent HGNC:26929 MONDO:0014285 NCBIGene:28958 biolink:gene_associated_with_condition MONDO:0033649 infores:ubergraph knowledge_assertion manual_agent HGNC:24990 MONDO:0033649 NCBIGene:4221 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4221 MONDO:0700096 No evidence available 0 true NCBIGene:7096 biolink:gene_associated_with_condition MONDO:0013185 infores:ubergraph knowledge_assertion manual_agent HGNC:11847 MONDO:0013185 NCBIGene:93035 biolink:gene_associated_with_condition MONDO:0968981 infores:ubergraph knowledge_assertion manual_agent HGNC:20313 MONDO:0968981 NCBIGene:8318 biolink:gene_associated_with_condition MONDO:0014894 infores:ubergraph knowledge_assertion manual_agent HGNC:1739 MONDO:0014894 NCBIGene:9313 biolink:gene_associated_with_condition MONDO:0012926 infores:ubergraph knowledge_assertion manual_agent HGNC:7167 MONDO:0012926 NCBIGene:391 biolink:gene_associated_with_condition MONDO:0800147 infores:clingen HGNC:672 MONDO:0800147 Moderate 2024-02-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_589fa88c-acff-4f50-8b44-55798f83cc93-2024-02-20T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:9782 biolink:gene_associated_with_condition MONDO:0018951 infores:clingen HGNC:6912 MONDO:0018951 Definitive 2024-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97ed1e35-c1b2-40c7-a60e-54b3c24004c4-2024-10-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2313 biolink:gene_associated_with_condition MONDO:0054577 infores:ubergraph knowledge_assertion manual_agent HGNC:3749 MONDO:0054577 NCBIGene:80067 biolink:gene_associated_with_condition MONDO:0009419 infores:clingen HGNC:25784 MONDO:0009419 Definitive 2021-07-27T15:35:26.827Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a1d7719-4261-494d-87aa-745518580673-2021-07-27T153526.827Z AR Autosomal Recessive 0000007 NCBIGene:5927 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:9886 MONDO:0005453 Limited 2024-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3e727da-2ddf-418d-830d-b1da8850c93d-2024-01-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:26576 biolink:gene_associated_with_condition MONDO:0975828 infores:ubergraph knowledge_assertion manual_agent HGNC:11402 MONDO:0975828 NCBIGene:4901 biolink:gene_associated_with_condition MONDO:0013402 infores:ubergraph knowledge_assertion manual_agent HGNC:8002 MONDO:0013402 NCBIGene:4860 biolink:gene_associated_with_condition MONDO:0013171 infores:clingen NCBIGene:4860 MONDO:0013171 Definitive 2025-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_037da566-326a-4573-ab2b-43bee7c322ed-2025-06-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1513 biolink:gene_associated_with_condition MONDO:0009940 infores:clingen HGNC:2536 MONDO:0009940 Definitive 2022-11-11T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8135617e-f334-4c22-aa9e-b1efd50e9326-2022-11-11T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:29954 biolink:gene_associated_with_condition MONDO:0700071 infores:clingen HGNC:19743 MONDO:0700071 Definitive 2024-07-26T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32427fb1-d583-47eb-a368-685ef56bad3d-2024-07-26T063000.000Z AR Autosomal Recessive 0000007 NCBIGene:54539 biolink:gene_associated_with_condition MONDO:1040023 infores:ubergraph knowledge_assertion manual_agent HGNC:20372 MONDO:1040023 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0008278 infores:clingen NCBIGene:4089 MONDO:0008278 Definitive 2023-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9b79d0f-4259-49d7-882d-4ca23bb7e8cf-2023-04-18T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4171 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:6944 MONDO:0019497 Limited 2020-04-21T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29172723-c896-4cbf-a20b-9921fc72547f-2020-04-21T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:54894 biolink:gene_associated_with_condition MONDO:0014919 infores:clingen HGNC:18505 MONDO:0014919 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9abf2a1d-21a7-4ef7-99c7-b0b37d5acf38-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:55765 biolink:gene_associated_with_condition MONDO:0054849 infores:ubergraph knowledge_assertion manual_agent HGNC:25599 MONDO:0054849 NCBIGene:57539 biolink:gene_associated_with_condition MONDO:0013323 infores:clingen HGNC:29250 MONDO:0013323 Definitive 2021-07-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7e56d33-315b-40a0-9ec5-0a99e12cf369-2021-07-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3872 biolink:gene_associated_with_condition MONDO:0008485 infores:ubergraph knowledge_assertion manual_agent HGNC:6427 MONDO:0008485 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0012746 infores:ubergraph knowledge_assertion manual_agent HGNC:11947 MONDO:0012746 NCBIGene:3242 biolink:gene_associated_with_condition MONDO:0010162 infores:ubergraph knowledge_assertion manual_agent HGNC:5147 MONDO:0010162 NCBIGene:27133 biolink:gene_associated_with_condition MONDO:0100207 infores:clingen HGNC:6254 MONDO:0100207 Definitive 2022-11-15T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1794f26-8bc9-4e76-bc1e-4dfb6aab53ff-2022-11-15T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:2110 biolink:gene_associated_with_condition MONDO:0009282 infores:clingen NCBIGene:2110 MONDO:0009282 Definitive 2018-05-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_062e336e-cfda-45f7-b509-cd44a5079034-2018-05-22T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:83475 biolink:gene_associated_with_condition MONDO:0859293 infores:ubergraph knowledge_assertion manual_agent HGNC:28662 MONDO:0859293 NCBIGene:9681 biolink:gene_associated_with_condition MONDO:0024556 infores:ubergraph knowledge_assertion manual_agent HGNC:18423 MONDO:0024556 NCBIGene:11151 biolink:gene_associated_with_condition MONDO:0014168 infores:ubergraph knowledge_assertion manual_agent HGNC:2252 MONDO:0014168 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0011377 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0011377 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0013599 infores:clingen HGNC:11362 MONDO:0013599 Definitive 2024-12-17T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3df6d1b-5611-4814-b283-8a082b725bc0-2024-12-17T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:6263 MONDO:0000453 Moderate 2020-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9111653a-7d9c-4d0e-94d9-daaa208a0b05-2020-10-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3746 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:6233 MONDO:0020074 Definitive 2022-11-07T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35d2beba-40f6-472d-842c-41925f486ba9-2022-11-07T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:7277 biolink:gene_associated_with_condition MONDO:0014531 infores:ubergraph knowledge_assertion manual_agent HGNC:12407 MONDO:0014531 NCBIGene:54902 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54902 MONDO:0700096 No evidence available 0 true NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0100599 infores:ubergraph knowledge_assertion manual_agent HGNC:2197 MONDO:0100599 NCBIGene:79631 biolink:gene_associated_with_condition MONDO:0009833 infores:clingen NCBIGene:79631 MONDO:0009833 Gene associated with autosomal recessive phenotype 30 NCBIGene:535 biolink:gene_associated_with_condition MONDO:0859265 infores:ubergraph knowledge_assertion manual_agent HGNC:865 MONDO:0859265 NCBIGene:3426 biolink:gene_associated_with_condition MONDO:0012594 infores:ubergraph knowledge_assertion manual_agent HGNC:5394 MONDO:0012594 NCBIGene:7384 biolink:gene_associated_with_condition MONDO:0036193 infores:ubergraph knowledge_assertion manual_agent HGNC:12585 MONDO:0036193 NCBIGene:2395 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2395 MONDO:0700096 No evidence available 0 true NCBIGene:2898 biolink:gene_associated_with_condition MONDO:0859201 infores:ubergraph knowledge_assertion manual_agent HGNC:4580 MONDO:0859201 NCBIGene:5116 biolink:gene_associated_with_condition MONDO:0008872 infores:ubergraph knowledge_assertion manual_agent HGNC:16068 MONDO:0008872 NCBIGene:1420 biolink:gene_associated_with_condition MONDO:0100436 infores:ubergraph knowledge_assertion manual_agent HGNC:2410 MONDO:0100436 NCBIGene:84665 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:23246 MONDO:0005045 Disputed 2023-06-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d992d892-856b-4f25-bab1-997f6493018c-2023-06-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5589 biolink:gene_associated_with_condition MONDO:0008265 infores:ubergraph knowledge_assertion manual_agent HGNC:9411 MONDO:0008265 NCBIGene:5283 biolink:gene_associated_with_condition MONDO:0060724 infores:ubergraph knowledge_assertion manual_agent HGNC:8964 MONDO:0060724 NCBIGene:1993 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1993 MONDO:0700096 No evidence available 0 true NCBIGene:340990 biolink:gene_associated_with_condition MONDO:0013985 infores:ubergraph knowledge_assertion manual_agent HGNC:8516 MONDO:0013985 NCBIGene:6247 biolink:gene_associated_with_condition MONDO:0010725 infores:ubergraph knowledge_assertion manual_agent HGNC:10457 MONDO:0010725 NCBIGene:4626 biolink:gene_associated_with_condition MONDO:0012137 infores:ubergraph knowledge_assertion manual_agent HGNC:7578 MONDO:0012137 NCBIGene:9750 biolink:gene_associated_with_condition MONDO:0011761 infores:ubergraph knowledge_assertion manual_agent HGNC:13872 MONDO:0011761 NCBIGene:10382 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10382 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6658 biolink:gene_associated_with_condition MONDO:0010712 infores:ubergraph knowledge_assertion manual_agent HGNC:11199 MONDO:0010712 NCBIGene:27077 biolink:gene_associated_with_condition MONDO:0014927 infores:ubergraph knowledge_assertion manual_agent HGNC:24123 MONDO:0014927 NCBIGene:6891 biolink:gene_associated_with_condition MONDO:0971011 infores:ubergraph knowledge_assertion manual_agent HGNC:44 MONDO:0971011 NCBIGene:84706 biolink:gene_associated_with_condition MONDO:0014567 infores:ubergraph knowledge_assertion manual_agent HGNC:18062 MONDO:0014567 NCBIGene:10747 biolink:gene_associated_with_condition MONDO:0013423 infores:ubergraph knowledge_assertion manual_agent HGNC:6902 MONDO:0013423 NCBIGene:4509 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7415 MONDO:0044970 Limited 2025-07-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dae079f2-ca8a-4994-a46b-56ac3d3094e6-2025-07-14T160000.000Z MT Mitochondrial 0001427 NCBIGene:1244 biolink:gene_associated_with_condition MONDO:0009380 infores:ubergraph knowledge_assertion manual_agent HGNC:53 MONDO:0009380 NCBIGene:57680 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:57680 MONDO:0100038 Definitive 2018-07-16T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3134b4e1-2fee-4025-99af-b2146cc2ccf8-2018-07-16T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5879 biolink:gene_associated_with_condition MONDO:0030913 infores:ubergraph knowledge_assertion manual_agent HGNC:9801 MONDO:0030913 NCBIGene:79734 biolink:gene_associated_with_condition MONDO:0014620 infores:ubergraph knowledge_assertion manual_agent HGNC:25705 MONDO:0014620 NCBIGene:8626 biolink:gene_associated_with_condition MONDO:0957216 infores:ubergraph knowledge_assertion manual_agent HGNC:15979 MONDO:0957216 NCBIGene:84433 biolink:gene_associated_with_condition MONDO:0014645 infores:ubergraph knowledge_assertion manual_agent HGNC:16393 MONDO:0014645 NCBIGene:85301 biolink:gene_associated_with_condition MONDO:0014061 infores:ubergraph knowledge_assertion manual_agent HGNC:22986 MONDO:0014061 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:4177 MONDO:0005180 Definitive 2022-05-03T13:48:10.206Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9201c03f-10de-447c-9b84-194f14b549b6-2022-05-03T134810.206Z AD Autosomal Dominant 0000006 NCBIGene:3543 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3543 MONDO:0700096 No evidence available 0 true NCBIGene:2000 biolink:gene_associated_with_condition MONDO:0024770 infores:clingen HGNC:3319 MONDO:0024770 Definitive 2025-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_625f18f6-e14f-457b-9134-a2b1aeedc410-2025-06-25T160000.000Z XL X-linked 0001417 NCBIGene:10815 biolink:gene_associated_with_condition MONDO:0033372 infores:ubergraph knowledge_assertion manual_agent HGNC:2309 MONDO:0033372 NCBIGene:4634 biolink:gene_associated_with_condition MONDO:0012111 infores:ubergraph knowledge_assertion manual_agent HGNC:7584 MONDO:0012111 NCBIGene:7277 biolink:gene_associated_with_condition MONDO:0015372 infores:clingen HGNC:12407 MONDO:0015372 Limited 2023-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d595dc4-2fa3-478a-a7b7-ffb499fa2ab7-2023-11-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23676 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:11122 MONDO:0019497 Definitive 2017-09-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29773bee-1f13-43f6-bda0-c5a646efccd7-2017-09-12T160000.000Z XL X-linked 0001417 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0600018 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0600018 NCBIGene:9421 biolink:gene_associated_with_condition MONDO:0800440 infores:ubergraph knowledge_assertion manual_agent HGNC:4807 MONDO:0800440 NCBIGene:27429 biolink:gene_associated_with_condition MONDO:0012466 infores:ubergraph knowledge_assertion manual_agent HGNC:14348 MONDO:0012466 NCBIGene:1139 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:1960 MONDO:0005027 Refuted 2023-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33edac94-9867-4b3f-9d46-2d7a86f4301b-2023-02-07T170000.000Z UD Undetermined Mode of Inheritance NCBIGene:91746 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91746 MONDO:0700096 No evidence available 0 true NCBIGene:10682 biolink:gene_associated_with_condition MONDO:0020603 infores:clingen NCBIGene:10682 MONDO:0020603 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0010533 infores:ubergraph knowledge_assertion manual_agent HGNC:9462 MONDO:0010533 NCBIGene:2166 biolink:gene_associated_with_condition MONDO:0011685 infores:ubergraph knowledge_assertion manual_agent HGNC:3553 MONDO:0011685 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0100433 infores:ubergraph knowledge_assertion manual_agent HGNC:132 MONDO:0100433 NCBIGene:23385 biolink:gene_associated_with_condition MONDO:0007728 infores:ubergraph knowledge_assertion manual_agent HGNC:17091 MONDO:0007728 NCBIGene:55737 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:13487 MONDO:0005180 Definitive 2021-11-03T13:45:17.796Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0e546d6-8a44-4e9d-83aa-f781ec4ec166-2021-11-03T134517.796Z AD Autosomal Dominant 0000006 NCBIGene:84466 biolink:gene_associated_with_condition MONDO:0013731 infores:ubergraph knowledge_assertion manual_agent HGNC:29634 MONDO:0013731 NCBIGene:8778 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8778 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0008111 infores:ubergraph knowledge_assertion manual_agent HGNC:4274 MONDO:0008111 NCBIGene:51684 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:16466 MONDO:0005308 Limited 2023-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59700c43-cff6-454e-895f-623c8cd68f8e-2023-03-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84879 biolink:gene_associated_with_condition MONDO:0014660 infores:ubergraph knowledge_assertion manual_agent HGNC:25897 MONDO:0014660 NCBIGene:7702 biolink:gene_associated_with_condition MONDO:0016826 infores:clingen HGNC:12928 MONDO:0016826 Moderate 2024-03-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2961595-2f51-45d6-af4d-988ec5a7628a-2024-03-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8754 biolink:gene_associated_with_condition MONDO:0800398 infores:clingen HGNC:216 MONDO:0800398 Definitive 2022-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c648ec73-186d-4680-93ea-29f5fdf91812-2022-09-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79644 biolink:gene_associated_with_condition MONDO:0012885 infores:ubergraph knowledge_assertion manual_agent HGNC:25812 MONDO:0012885 NCBIGene:226 biolink:gene_associated_with_condition MONDO:0012747 infores:clingen NCBIGene:226 MONDO:0012747 Gene associated with autosomal recessive phenotype 30 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0100302 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0100302 NCBIGene:6016 biolink:gene_associated_with_condition MONDO:0014143 infores:ubergraph knowledge_assertion manual_agent HGNC:10023 MONDO:0014143 NCBIGene:2113 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3488 MONDO:0005453 Moderate 2023-11-21T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d880eb55-5a26-46f7-b53d-1276c521fa1b-2023-11-21T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:79188 biolink:gene_associated_with_condition MONDO:0011459 infores:clingen NCBIGene:79188 MONDO:0011459 Definitive 2018-10-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_675dc788-9749-413f-93ce-8c1fc3adbe84-2018-10-26T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:80207 biolink:gene_associated_with_condition MONDO:0009787 infores:ubergraph knowledge_assertion manual_agent HGNC:8142 MONDO:0009787 NCBIGene:362 biolink:gene_associated_with_condition MONDO:0010849 infores:ubergraph knowledge_assertion manual_agent HGNC:638 MONDO:0010849 NCBIGene:22845 biolink:gene_associated_with_condition MONDO:0012556 infores:ubergraph knowledge_assertion manual_agent HGNC:23406 MONDO:0012556 NCBIGene:1636 biolink:gene_associated_with_condition MONDO:0700337 infores:ubergraph knowledge_assertion manual_agent HGNC:2707 MONDO:0700337 NCBIGene:1509 biolink:gene_associated_with_condition MONDO:0012414 infores:ubergraph knowledge_assertion manual_agent HGNC:2529 MONDO:0012414 NCBIGene:22868 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:29160 MONDO:0044970 Definitive 2022-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82883e8c-7ee6-447e-bdc6-8898c4848e7a-2022-07-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6231 biolink:gene_associated_with_condition MONDO:0013217 infores:clingen NCBIGene:6231 MONDO:0013217 Sufficient evidence for dosage pathogenicity 3 NCBIGene:133686 biolink:gene_associated_with_condition MONDO:0014464 infores:ubergraph knowledge_assertion manual_agent HGNC:26404 MONDO:0014464 NCBIGene:170680 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:170680 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:55036 biolink:gene_associated_with_condition MONDO:0013435 infores:clingen NCBIGene:55036 MONDO:0013435 Definitive 2021-12-10T03:15:08.185Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9c192c6-9f74-4beb-85ba-a42199e9794a-2021-12-10T031508.185Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:285440 biolink:gene_associated_with_condition MONDO:0008865 infores:ubergraph knowledge_assertion manual_agent HGNC:23198 MONDO:0008865 NCBIGene:122042 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:122042 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23503 biolink:gene_associated_with_condition MONDO:0010044 infores:ubergraph knowledge_assertion manual_agent HGNC:20761 MONDO:0010044 NCBIGene:90523 biolink:gene_associated_with_condition MONDO:0859322 infores:ubergraph knowledge_assertion manual_agent HGNC:21355 MONDO:0859322 NCBIGene:5530 biolink:gene_associated_with_condition MONDO:0032642 infores:ubergraph knowledge_assertion manual_agent HGNC:9314 MONDO:0032642 NCBIGene:778 biolink:gene_associated_with_condition MONDO:0700243 infores:clingen HGNC:1393 MONDO:0700243 Definitive 2023-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7800cd0-11d8-4e50-85f0-04574c8798f4-2023-01-05T170000.000Z XL X-linked 0001417 NCBIGene:9829 biolink:gene_associated_with_condition MONDO:0014231 infores:clingen NCBIGene:9829 MONDO:0014231 Gene associated with autosomal recessive phenotype 30 NCBIGene:3008 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3008 MONDO:0700096 No evidence available 0 true NCBIGene:126410 biolink:gene_associated_with_condition MONDO:0011485 infores:clingen NCBIGene:126410 MONDO:0011485 Gene associated with autosomal recessive phenotype 30 NCBIGene:6472 biolink:gene_associated_with_condition MONDO:0030866 infores:clingen HGNC:10852 MONDO:0030866 Limited 2024-07-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf0af939-9015-47dd-bbcd-192114220334-2024-07-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:29929 biolink:gene_associated_with_condition MONDO:0002473 infores:clingen HGNC:23157 MONDO:0002473 Limited 2024-04-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4d62da9-8878-494e-b36b-7025fc31a428-2024-04-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6218 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6218 MONDO:0700096 No evidence available 0 true NCBIGene:2717 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2717 MONDO:0700096 No evidence available 0 true NCBIGene:79867 biolink:gene_associated_with_condition MONDO:0014724 infores:clingen HGNC:25774 MONDO:0014724 Definitive 2023-07-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82bc1eb0-882b-48a2-a29f-23bec8d75def-2023-07-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5071 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:8607 MONDO:0005180 Definitive 2023-01-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b39c4a0-f6bd-4afc-b2a7-f234eab5a667-2023-01-18T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:57379 biolink:gene_associated_with_condition MONDO:0011528 infores:clingen NCBIGene:57379 MONDO:0011528 Definitive 2024-08-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b34c451d-03a1-42dd-a439-599428b0eb38-2024-08-28T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5146 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5146 MONDO:0700096 No evidence available 0 true NCBIGene:5605 biolink:gene_associated_with_condition MONDO:0014114 infores:ubergraph knowledge_assertion manual_agent HGNC:6842 MONDO:0014114 NCBIGene:7862 biolink:gene_associated_with_condition MONDO:0015022 infores:ubergraph knowledge_assertion manual_agent HGNC:14255 MONDO:0015022 NCBIGene:25915 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:29918 MONDO:0044970 Definitive 2022-03-07T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbdf3ba5-37d8-447d-888b-2762701bab49-2022-03-07T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:5649 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:5649 MONDO:0100038 Disputed 2023-07-19T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c654081c-5abd-4f86-a3f7-90d7f117b93d-2023-07-19T060000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:124590 biolink:gene_associated_with_condition MONDO:0011748 infores:ubergraph knowledge_assertion manual_agent HGNC:16356 MONDO:0011748 NCBIGene:9380 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9380 MONDO:0700096 No evidence available 0 true NCBIGene:6399 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6399 MONDO:0700096 No evidence available 0 true NCBIGene:79875 biolink:gene_associated_with_condition MONDO:0030731 infores:ubergraph knowledge_assertion manual_agent HGNC:25835 MONDO:0030731 NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29072 MONDO:0700096 No evidence available 0 true NCBIGene:11200 biolink:gene_associated_with_condition MONDO:0700271 infores:clingen HGNC:16627 MONDO:0700271 Definitive 2024-11-04T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49566325-8710-4b72-ad64-79528585223d-2024-11-04T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:311 biolink:gene_associated_with_condition MONDO:0027694 infores:clingen HGNC:535 MONDO:0027694 Definitive 2021-11-12T21:59:39.032Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dca2f56-87c6-4ac7-97bf-0889883b8e63-2021-11-12T215939.032Z AD Autosomal Dominant 0000006 NCBIGene:3655 biolink:gene_associated_with_condition MONDO:0859233 infores:ubergraph knowledge_assertion manual_agent HGNC:6142 MONDO:0859233 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:7577 MONDO:0016587 Limited 2019-08-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0265f091-a67d-4521-b6bd-5a110bd5356f-2019-08-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5317 biolink:gene_associated_with_condition MONDO:0011472 infores:ubergraph knowledge_assertion manual_agent HGNC:9023 MONDO:0011472 NCBIGene:23426 biolink:gene_associated_with_condition MONDO:0054739 infores:clingen HGNC:18708 MONDO:0054739 Definitive 2023-03-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f48ad44-97c0-41e8-b50e-307eac8c310a-2023-03-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57338 biolink:gene_associated_with_condition MONDO:0011671 infores:ubergraph knowledge_assertion manual_agent HGNC:14203 MONDO:0011671 NCBIGene:583 biolink:gene_associated_with_condition MONDO:1040048 infores:ubergraph knowledge_assertion manual_agent HGNC:967 MONDO:1040048 NCBIGene:25836 biolink:gene_associated_with_condition MONDO:0007387 infores:ubergraph knowledge_assertion manual_agent HGNC:28862 MONDO:0007387 NCBIGene:5573 biolink:gene_associated_with_condition MONDO:0009719 infores:ubergraph knowledge_assertion manual_agent HGNC:9388 MONDO:0009719 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0100596 infores:ubergraph knowledge_assertion manual_agent HGNC:2198 MONDO:0100596 NCBIGene:51008 biolink:gene_associated_with_condition MONDO:0014807 infores:ubergraph knowledge_assertion manual_agent HGNC:24268 MONDO:0014807 NCBIGene:9488 biolink:gene_associated_with_condition MONDO:0032822 infores:ubergraph knowledge_assertion manual_agent HGNC:8959 MONDO:0032822 NCBIGene:10236 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:5047 MONDO:0000508 Definitive 2023-05-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457f4be2-fe32-4878-b367-7fa614f78c63-2023-05-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:196528 biolink:gene_associated_with_condition MONDO:0033492 infores:ubergraph knowledge_assertion manual_agent HGNC:18037 MONDO:0033492 NCBIGene:1798 biolink:gene_associated_with_condition MONDO:0015286 infores:clingen NCBIGene:1798 MONDO:0015286 Gene associated with autosomal recessive phenotype 30 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0013795 infores:ubergraph knowledge_assertion manual_agent HGNC:2187 MONDO:0013795 NCBIGene:80776 biolink:gene_associated_with_condition MONDO:0013609 infores:ubergraph knowledge_assertion manual_agent HGNC:28636 MONDO:0013609 NCBIGene:25782 biolink:gene_associated_with_condition MONDO:0013641 infores:ubergraph knowledge_assertion manual_agent HGNC:17168 MONDO:0013641 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0054708 infores:ubergraph knowledge_assertion manual_agent HGNC:29077 MONDO:0054708 NCBIGene:2132 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2132 MONDO:0700096 No evidence available 0 true NCBIGene:6443 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:10806 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c90753f2-8252-400f-b7b3-9d0b04e1e12c-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:27019 biolink:gene_associated_with_condition MONDO:0009484 infores:ubergraph knowledge_assertion manual_agent HGNC:2954 MONDO:0009484 NCBIGene:405753 biolink:gene_associated_with_condition MONDO:0010137 infores:ubergraph knowledge_assertion manual_agent HGNC:32698 MONDO:0010137 NCBIGene:9096 biolink:gene_associated_with_condition MONDO:0027676 infores:ubergraph knowledge_assertion manual_agent HGNC:11595 MONDO:0027676 NCBIGene:1723 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1723 MONDO:0700096 No evidence available 0 true NCBIGene:7132 biolink:gene_associated_with_condition MONDO:0007727 infores:ubergraph knowledge_assertion manual_agent HGNC:11916 MONDO:0007727 NCBIGene:8632 biolink:gene_associated_with_condition MONDO:0032845 infores:ubergraph knowledge_assertion manual_agent HGNC:2946 MONDO:0032845 NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010726 infores:clingen NCBIGene:4204 MONDO:0010726 Definitive 2018-05-02T13:26:29.570Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2df006ff-5ab4-4926-9b72-48909b09e608-2018-05-02T132629.570Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79042 biolink:gene_associated_with_condition MONDO:0012891 infores:ubergraph knowledge_assertion manual_agent HGNC:15506 MONDO:0012891 NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:6840 MONDO:0015280 Definitive 2018-05-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8c7a090-0a97-4653-bd51-702a9f9144b9-2018-05-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3455 biolink:gene_associated_with_condition MONDO:0014727 infores:ubergraph knowledge_assertion manual_agent HGNC:5433 MONDO:0014727 NCBIGene:10585 biolink:gene_associated_with_condition MONDO:0700070 infores:ubergraph knowledge_assertion manual_agent HGNC:9202 MONDO:0700070 NCBIGene:2110 biolink:gene_associated_with_condition MONDO:0700076 infores:ubergraph knowledge_assertion manual_agent HGNC:3483 MONDO:0700076 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0011186 infores:ubergraph knowledge_assertion manual_agent HGNC:14674 MONDO:0011186 NCBIGene:3181 biolink:gene_associated_with_condition MONDO:0014178 infores:clingen HGNC:5033 MONDO:0014178 Moderate 2024-10-24T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ffe711b-1ff6-4b11-b329-c0f820904764-2024-10-24T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0008975 infores:clingen HGNC:2187 MONDO:0008975 Definitive 2018-12-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_177bddd8-0566-4f80-a9f1-679ca96a7c60-2018-12-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:2198 MONDO:0005453 Disputed 2024-09-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4e87080-7e90-4e19-a3dc-e986bfd01e0f-2024-09-09T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:9644 MONDO:0009026 Disputed 2018-05-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72fca24b-243b-49de-9ceb-ae76e12f60a8-2018-05-31T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6714 biolink:gene_associated_with_condition MONDO:0014837 infores:ubergraph knowledge_assertion manual_agent HGNC:11283 MONDO:0014837 NCBIGene:11023 biolink:gene_associated_with_condition MONDO:0013734 infores:ubergraph knowledge_assertion manual_agent HGNC:12660 MONDO:0013734 NCBIGene:7388 biolink:gene_associated_with_condition MONDO:0859321 infores:ubergraph knowledge_assertion manual_agent HGNC:12590 MONDO:0859321 NCBIGene:10026 biolink:gene_associated_with_condition MONDO:0030037 infores:ubergraph knowledge_assertion manual_agent HGNC:8965 MONDO:0030037 NCBIGene:54205 biolink:gene_associated_with_condition MONDO:0012775 infores:clingen HGNC:19986 MONDO:0012775 Limited 2025-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_772f2ad2-5d8c-41f6-95c4-39063daf77be-2025-02-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3315 biolink:gene_associated_with_condition MONDO:0011687 infores:ubergraph knowledge_assertion manual_agent HGNC:5246 MONDO:0011687 NCBIGene:60495 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:60495 MONDO:0700096 No evidence available 0 true NCBIGene:7203 biolink:gene_associated_with_condition MONDO:0976125 infores:ubergraph knowledge_assertion manual_agent HGNC:1616 MONDO:0976125 NCBIGene:4361 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:7230 MONDO:0016419 Refuted 2023-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e720d1f7-62b3-4a0f-97de-e1144d0475a9-2023-03-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8996 biolink:gene_associated_with_condition MONDO:0100093 infores:ubergraph knowledge_assertion manual_agent HGNC:7869 MONDO:0100093 NCBIGene:57194 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57194 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:60386 biolink:gene_associated_with_condition MONDO:0011790 infores:ubergraph knowledge_assertion manual_agent HGNC:14409 MONDO:0011790 NCBIGene:79840 biolink:gene_associated_with_condition MONDO:0012650 infores:clingen HGNC:25737 MONDO:0012650 Definitive 2021-05-20T15:12:33.276Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_765b118e-c60a-4696-b401-f63b3349d6d2-2021-05-20T151233.276Z AR Autosomal Recessive 0000007 NCBIGene:9126 biolink:gene_associated_with_condition MONDO:0016033 infores:clingen HGNC:2468 MONDO:0016033 Definitive 2020-04-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9467eaad-a86a-4b24-8cd4-98ebb57121c1-2020-04-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6694 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6694 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2583 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:4117 MONDO:0015150 Definitive 2023-06-01T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4cabf677-8fa5-4455-831c-1d06dd48c780-2023-06-01T060000.000Z AR Autosomal Recessive 0000007 NCBIGene:23636 biolink:gene_associated_with_condition MONDO:0010080 infores:ubergraph knowledge_assertion manual_agent HGNC:8066 MONDO:0010080 NCBIGene:118429 biolink:gene_associated_with_condition MONDO:0009229 infores:ubergraph knowledge_assertion manual_agent HGNC:21732 MONDO:0009229 NCBIGene:10257 biolink:gene_associated_with_condition MONDO:0001197 infores:clingen HGNC:55 MONDO:0001197 Moderate 2024-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2828abac-5b4a-4dad-a703-10c0daf35dbd-2024-06-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23522 biolink:gene_associated_with_condition MONDO:0036042 infores:clingen HGNC:17582 MONDO:0036042 Definitive 2023-01-04T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cea46b8-c173-46f6-bd81-46b5411d0a0e-2023-01-04T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:9049 biolink:gene_associated_with_condition MONDO:0010911 infores:ubergraph knowledge_assertion manual_agent HGNC:358 MONDO:0010911 NCBIGene:57679 biolink:gene_associated_with_condition MONDO:0100227 infores:clingen HGNC:443 MONDO:0100227 Definitive 2023-02-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b31dd10c-0b38-4edf-8e23-fb2652c6e939-2023-02-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4565 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7488 MONDO:0009723 Limited 2021-02-03T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69991755-b62f-42aa-bbe3-30ac10e4311d-2021-02-03T050000.000Z MT Mitochondrial 0001427 NCBIGene:2774 biolink:gene_associated_with_condition MONDO:0014033 infores:ubergraph knowledge_assertion manual_agent HGNC:4388 MONDO:0014033 NCBIGene:629 biolink:gene_associated_with_condition MONDO:0014255 infores:ubergraph knowledge_assertion manual_agent HGNC:1037 MONDO:0014255 NCBIGene:3949 biolink:gene_associated_with_condition MONDO:0007750 infores:clingen NCBIGene:3949 MONDO:0007750 Definitive 2021-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81788cfe-7520-4821-b80b-3ee0b2018909-2021-02-24T170000.000Z SD Semidominant 0032113 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10000 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10000 MONDO:0700096 No evidence available 0 true NCBIGene:7471 biolink:gene_associated_with_condition MONDO:0014086 infores:ubergraph knowledge_assertion manual_agent HGNC:12774 MONDO:0014086 NCBIGene:9051 biolink:gene_associated_with_condition MONDO:0011462 infores:ubergraph knowledge_assertion manual_agent HGNC:9580 MONDO:0011462 NCBIGene:10397 biolink:gene_associated_with_condition MONDO:0011085 infores:clingen NCBIGene:10397 MONDO:0011085 Gene associated with autosomal recessive phenotype 30 NCBIGene:63895 biolink:gene_associated_with_condition MONDO:0009564 infores:ubergraph knowledge_assertion manual_agent HGNC:26270 MONDO:0009564 NCBIGene:1650 biolink:gene_associated_with_condition MONDO:0013789 infores:clingen NCBIGene:1650 MONDO:0013789 Moderate 2023-11-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0605b51-70c5-42ee-81b5-d45bb0b1fdab-2023-11-15T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:27232 biolink:gene_associated_with_condition MONDO:0011698 infores:clingen HGNC:4415 MONDO:0011698 Limited 2022-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafb0200-f6cf-482d-9ffb-69ae7bc43669-2022-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23328 biolink:gene_associated_with_condition MONDO:0024524 infores:ubergraph knowledge_assertion manual_agent HGNC:19182 MONDO:0024524 NCBIGene:2694 biolink:gene_associated_with_condition MONDO:0009852 infores:ubergraph knowledge_assertion manual_agent HGNC:4268 MONDO:0009852 NCBIGene:9420 biolink:gene_associated_with_condition MONDO:1060107 infores:clingen HGNC:2652 MONDO:1060107 Definitive 2025-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e000ae1c-93a3-4f6b-bdf0-afd04603d407-2025-02-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9739 biolink:gene_associated_with_condition MONDO:0005090 infores:clingen NCBIGene:9739 MONDO:0005090 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7298 biolink:gene_associated_with_condition MONDO:0031057 infores:ubergraph knowledge_assertion manual_agent HGNC:12441 MONDO:0031057 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:673 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0008214 infores:ubergraph knowledge_assertion manual_agent HGNC:6518 MONDO:0008214 NCBIGene:26276 biolink:gene_associated_with_condition MONDO:0008822 infores:ubergraph knowledge_assertion manual_agent HGNC:12712 MONDO:0008822 NCBIGene:55690 biolink:gene_associated_with_condition MONDO:0014006 infores:ubergraph knowledge_assertion manual_agent HGNC:30032 MONDO:0014006 NCBIGene:2622 biolink:gene_associated_with_condition MONDO:0014750 infores:ubergraph knowledge_assertion manual_agent HGNC:4166 MONDO:0014750 NCBIGene:3736 biolink:gene_associated_with_condition MONDO:0019943 infores:ubergraph knowledge_assertion manual_agent HGNC:6218 MONDO:0019943 NCBIGene:9475 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:10252 MONDO:0005453 Limited 2024-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09e6b7ea-62e5-497a-8112-b09234dd99d1-2024-09-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4148 biolink:gene_associated_with_condition MONDO:0012108 infores:ubergraph knowledge_assertion manual_agent HGNC:6909 MONDO:0012108 NCBIGene:64699 biolink:gene_associated_with_condition MONDO:0010987 infores:ubergraph knowledge_assertion manual_agent HGNC:11877 MONDO:0010987 NCBIGene:64321 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:18122 MONDO:0015924 Definitive 2025-10-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d47cc1b-9fe0-4f2f-9415-1490d81a5ca3-2025-10-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23299 biolink:gene_associated_with_condition MONDO:0032660 infores:ubergraph knowledge_assertion manual_agent HGNC:17208 MONDO:0032660 NCBIGene:3984 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3984 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4851 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4851 MONDO:0700096 No evidence available 0 true NCBIGene:1385 biolink:gene_associated_with_condition MONDO:0012809 infores:ubergraph knowledge_assertion manual_agent HGNC:2345 MONDO:0012809 NCBIGene:5053 biolink:gene_associated_with_condition MONDO:0009861 infores:ubergraph knowledge_assertion manual_agent HGNC:8582 MONDO:0009861 NCBIGene:390445 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:390445 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:27286 biolink:gene_associated_with_condition MONDO:0010388 infores:ubergraph knowledge_assertion manual_agent HGNC:30668 MONDO:0010388 NCBIGene:2162 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2162 MONDO:0700096 No evidence available 0 true NCBIGene:2022 biolink:gene_associated_with_condition MONDO:0008535 infores:ubergraph knowledge_assertion manual_agent HGNC:3349 MONDO:0008535 NCBIGene:55857 biolink:gene_associated_with_condition MONDO:0700232 infores:ubergraph knowledge_assertion manual_agent HGNC:15865 MONDO:0700232 NCBIGene:641339 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen HGNC:17625 MONDO:0100284 Disputed 2021-05-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5105ab37-4f59-44dc-a8b1-f28e6ed3b704-2021-05-04T170000.000Z XL X-linked 0001417 NCBIGene:3373 biolink:gene_associated_with_condition MONDO:0011093 infores:ubergraph knowledge_assertion manual_agent HGNC:5320 MONDO:0011093 NCBIGene:23169 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23169 MONDO:0700096 No evidence available 0 true NCBIGene:7468 biolink:gene_associated_with_condition MONDO:0859219 infores:ubergraph knowledge_assertion manual_agent HGNC:12766 MONDO:0859219 NCBIGene:51119 biolink:gene_associated_with_condition MONDO:0044204 infores:ubergraph knowledge_assertion manual_agent HGNC:19440 MONDO:0044204 NCBIGene:93664 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:93664 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7100 biolink:gene_associated_with_condition MONDO:0012057 infores:ubergraph knowledge_assertion manual_agent HGNC:11851 MONDO:0012057 NCBIGene:3033 biolink:gene_associated_with_condition MONDO:0017715 infores:ubergraph knowledge_assertion manual_agent HGNC:4799 MONDO:0017715 NCBIGene:5156 biolink:gene_associated_with_condition MONDO:0011895 infores:ubergraph knowledge_assertion manual_agent HGNC:8803 MONDO:0011895 NCBIGene:84839 biolink:gene_associated_with_condition MONDO:0013406 infores:ubergraph knowledge_assertion manual_agent HGNC:18286 MONDO:0013406 NCBIGene:348938 biolink:gene_associated_with_condition MONDO:0012847 infores:ubergraph knowledge_assertion manual_agent HGNC:28018 MONDO:0012847 NCBIGene:51428 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51428 MONDO:0700096 No evidence available 0 true NCBIGene:79977 biolink:gene_associated_with_condition MONDO:0014460 infores:ubergraph knowledge_assertion manual_agent HGNC:2799 MONDO:0014460 NCBIGene:6204 biolink:gene_associated_with_condition MONDO:0013216 infores:ubergraph knowledge_assertion manual_agent HGNC:10383 MONDO:0013216 NCBIGene:56521 biolink:gene_associated_with_condition MONDO:0044304 infores:clingen HGNC:28908 MONDO:0044304 Definitive 2021-01-11T18:48:23.935Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_500ad0d5-2871-4b25-a96f-0c0816524a4b-2021-01-11T184823.935Z AR Autosomal Recessive 0000007 NCBIGene:9968 biolink:gene_associated_with_condition MONDO:0012997 infores:ubergraph knowledge_assertion manual_agent HGNC:11957 MONDO:0012997 NCBIGene:56623 biolink:gene_associated_with_condition MONDO:0012423 infores:ubergraph knowledge_assertion manual_agent HGNC:21474 MONDO:0012423 NCBIGene:4703 biolink:gene_associated_with_condition MONDO:0009725 infores:clingen HGNC:7720 MONDO:0009725 Definitive 2019-10-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796dd762-f35c-425a-be3f-05424324ade0-2019-10-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6559 biolink:gene_associated_with_condition MONDO:0009904 infores:clingen NCBIGene:6559 MONDO:0009904 Gene associated with autosomal recessive phenotype 30 NCBIGene:10568 biolink:gene_associated_with_condition MONDO:0009928 infores:ubergraph knowledge_assertion manual_agent HGNC:11020 MONDO:0009928 NCBIGene:549 biolink:gene_associated_with_condition MONDO:0009610 infores:ubergraph knowledge_assertion manual_agent HGNC:890 MONDO:0009610 NCBIGene:3032 biolink:gene_associated_with_condition MONDO:0012172 infores:clingen HGNC:4803 MONDO:0012172 Definitive 2018-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65cb0124-8476-422c-924f-15fac7c95592-2018-05-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:152926 biolink:gene_associated_with_condition MONDO:0014057 infores:clingen HGNC:25415 MONDO:0014057 Moderate 2023-12-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2b1c4d4-ca12-4456-afe0-f727106afeaf-2023-12-22T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9094 biolink:gene_associated_with_condition MONDO:0957240 infores:ubergraph knowledge_assertion manual_agent HGNC:12565 MONDO:0957240 NCBIGene:1950 biolink:gene_associated_with_condition MONDO:0012717 infores:clingen HGNC:3229 MONDO:0012717 Limited 2023-10-19T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5289e69-e046-4a70-bd8a-3b44ebf73c8d-2023-10-19T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:930 biolink:gene_associated_with_condition MONDO:0013283 infores:clingen NCBIGene:930 MONDO:0013283 Definitive 2022-05-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6576337-703e-4d76-9120-5f6800730774-2022-05-24T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51604 biolink:gene_associated_with_condition MONDO:0014166 infores:ubergraph knowledge_assertion manual_agent HGNC:14938 MONDO:0014166 NCBIGene:5340 biolink:gene_associated_with_condition MONDO:0009009 infores:clingen HGNC:9071 MONDO:0009009 Definitive 2019-10-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9320e7-9f02-4b54-beba-0ca781a442eb-2019-10-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2736 biolink:gene_associated_with_condition MONDO:0014369 infores:ubergraph knowledge_assertion manual_agent HGNC:4318 MONDO:0014369 NCBIGene:83959 biolink:gene_associated_with_condition MONDO:0009015 infores:ubergraph knowledge_assertion manual_agent HGNC:16438 MONDO:0009015 NCBIGene:27445 biolink:gene_associated_with_condition MONDO:0011948 infores:ubergraph knowledge_assertion manual_agent HGNC:13406 MONDO:0011948 NCBIGene:285175 biolink:gene_associated_with_condition MONDO:0014777 infores:clingen HGNC:26582 MONDO:0014777 Definitive 2021-07-30T13:43:37.292Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7639160a-1761-4dcb-98de-2aeb61b2b080-2021-07-30T134337.292Z AR Autosomal Recessive 0000007 NCBIGene:1337 biolink:gene_associated_with_condition MONDO:0014467 infores:ubergraph knowledge_assertion manual_agent HGNC:2277 MONDO:0014467 NCBIGene:390594 biolink:gene_associated_with_condition MONDO:0012237 infores:ubergraph knowledge_assertion manual_agent HGNC:37227 MONDO:0012237 NCBIGene:7476 biolink:gene_associated_with_condition MONDO:0010164 infores:ubergraph knowledge_assertion manual_agent HGNC:12786 MONDO:0010164 NCBIGene:23607 biolink:gene_associated_with_condition MONDO:0011917 infores:ubergraph knowledge_assertion manual_agent HGNC:14258 MONDO:0011917 NCBIGene:5795 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:9673 MONDO:0018630 Limited 2018-10-12T21:07:42.630Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_051bd795-fea1-4d6d-8947-348b7f0be80a-2018-10-12T210742.630Z AD Autosomal Dominant 0000006 NCBIGene:84342 biolink:gene_associated_with_condition MONDO:0012635 infores:clingen NCBIGene:84342 MONDO:0012635 Gene associated with autosomal recessive phenotype 30 NCBIGene:5567 biolink:gene_associated_with_condition MONDO:0030877 infores:ubergraph knowledge_assertion manual_agent HGNC:9381 MONDO:0030877 NCBIGene:7015 biolink:gene_associated_with_condition MONDO:0013521 infores:clingen HGNC:11730 MONDO:0013521 Definitive 2020-07-30T20:58:43.081Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6ea76-e8ac-4a38-b42c-23fc18a9623b-2020-07-30T205843.081Z SD Semidominant 0032113 NCBIGene:2038 biolink:gene_associated_with_condition MONDO:0012985 infores:ubergraph knowledge_assertion manual_agent HGNC:3381 MONDO:0012985 NCBIGene:54806 biolink:gene_associated_with_condition MONDO:0012078 infores:clingen NCBIGene:54806 MONDO:0012078 Definitive 2021-10-26T14:33:45.589Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0d8d22f-cea6-4f4f-bc71-e85303dccac1-2021-10-26T143345.589Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1610 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:2671 MONDO:0004976 Refuted 2022-04-12T10:38:08.867Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35ac00ac-3279-4c7e-89b6-8a75e3cae414-2022-04-12T103808.867Z AD Autosomal Dominant 0000006 NCBIGene:64218 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:10729 MONDO:0005835 Disputed 2024-03-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af6942d6-a886-4ef0-a979-bce7a971e111-2024-03-22T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:58510 biolink:gene_associated_with_condition MONDO:0009374 infores:clingen HGNC:17325 MONDO:0009374 Limited 2022-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9101c67-2635-4595-b9a8-8e749bba58d1-2022-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79600 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79600 MONDO:0700096 No evidence available 0 true NCBIGene:7915 biolink:gene_associated_with_condition MONDO:0010083 infores:ubergraph knowledge_assertion manual_agent HGNC:408 MONDO:0010083 NCBIGene:64446 biolink:gene_associated_with_condition MONDO:0012906 infores:ubergraph knowledge_assertion manual_agent HGNC:18744 MONDO:0012906 NCBIGene:83636 biolink:gene_associated_with_condition MONDO:0013674 infores:clingen NCBIGene:83636 MONDO:0013674 Definitive 2023-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20b64ab8-0b48-40d4-8ef5-b3d251e4bec0-2023-02-28T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:54704 biolink:gene_associated_with_condition MONDO:0012120 infores:clingen NCBIGene:54704 MONDO:0012120 Gene associated with autosomal recessive phenotype 30 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:6296 MONDO:0100038 Definitive 2021-11-15T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e18266b2-576c-4e38-8007-9fe4faaf4f0e-2021-11-15T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:5627 biolink:gene_associated_with_condition MONDO:0013791 infores:ubergraph knowledge_assertion manual_agent HGNC:9456 MONDO:0013791 NCBIGene:22897 biolink:gene_associated_with_condition MONDO:0700344 infores:ubergraph knowledge_assertion manual_agent HGNC:29182 MONDO:0700344 NCBIGene:57514 biolink:gene_associated_with_condition MONDO:0024506 infores:ubergraph knowledge_assertion manual_agent HGNC:29216 MONDO:0024506 NCBIGene:64699 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:11877 MONDO:0019497 Definitive 2017-08-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee13ba8c-7986-4e6c-8a39-4ee197ba4023-2017-08-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7415 biolink:gene_associated_with_condition MONDO:0013501 infores:ubergraph knowledge_assertion manual_agent HGNC:12666 MONDO:0013501 NCBIGene:6897 biolink:gene_associated_with_condition MONDO:0032806 infores:ubergraph knowledge_assertion manual_agent HGNC:11572 MONDO:0032806 NCBIGene:1769 biolink:gene_associated_with_condition MONDO:0033673 infores:clingen HGNC:2952 MONDO:0033673 Strong 2022-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e740f4af-53fe-4c51-99f6-6111fe343d7f-2022-06-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2562 biolink:gene_associated_with_condition MONDO:0012843 infores:ubergraph knowledge_assertion manual_agent HGNC:4083 MONDO:0012843 NCBIGene:55072 biolink:gene_associated_with_condition MONDO:0957981 infores:ubergraph knowledge_assertion manual_agent HGNC:16031 MONDO:0957981 NCBIGene:695 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:695 MONDO:0700096 No evidence available 0 true NCBIGene:3155 biolink:gene_associated_with_condition MONDO:0009520 infores:ubergraph knowledge_assertion manual_agent HGNC:5005 MONDO:0009520 NCBIGene:79053 biolink:gene_associated_with_condition MONDO:0054743 infores:ubergraph knowledge_assertion manual_agent HGNC:23161 MONDO:0054743 NCBIGene:8216 biolink:gene_associated_with_condition MONDO:0014693 infores:ubergraph knowledge_assertion manual_agent HGNC:6742 MONDO:0014693 NCBIGene:1824 biolink:gene_associated_with_condition MONDO:0012506 infores:ubergraph knowledge_assertion manual_agent HGNC:3036 MONDO:0012506 NCBIGene:55005 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55005 MONDO:0700096 No evidence available 0 true NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0019056 infores:clingen HGNC:18083 MONDO:0019056 Definitive 2021-12-14T14:53:10.482Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b89b03c3-24c7-4424-989c-abd65eb2b7ec-2021-12-14T145310.482Z AD Autosomal Dominant 0000006 NCBIGene:51473 biolink:gene_associated_with_condition MONDO:0012442 infores:ubergraph knowledge_assertion manual_agent HGNC:18141 MONDO:0012442 NCBIGene:8504 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8858 MONDO:0019234 Definitive 2019-11-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d53df483-c31a-4672-8a11-04d33d6df336-2019-11-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2162 biolink:gene_associated_with_condition MONDO:0013187 infores:clingen NCBIGene:2162 MONDO:0013187 Definitive 2020-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd9321a7-f45d-419e-94ce-101ab545a847-2020-07-22T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0011245 infores:ubergraph knowledge_assertion manual_agent HGNC:4284 MONDO:0011245 NCBIGene:1107 biolink:gene_associated_with_condition MONDO:0032600 infores:ubergraph knowledge_assertion manual_agent HGNC:1918 MONDO:0032600 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0007688 infores:ubergraph knowledge_assertion manual_agent HGNC:6770 MONDO:0007688 NCBIGene:5890 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5890 MONDO:0700096 No evidence available 0 true NCBIGene:1140 biolink:gene_associated_with_condition MONDO:0014581 infores:clingen HGNC:1961 MONDO:0014581 Moderate 2025-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f730428-a13a-4046-9ce9-0d95753213c6-2025-10-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:199720 biolink:gene_associated_with_condition MONDO:0030732 infores:ubergraph knowledge_assertion manual_agent HGNC:18869 MONDO:0030732 NCBIGene:1642 biolink:gene_associated_with_condition MONDO:0859169 infores:ubergraph knowledge_assertion manual_agent HGNC:2717 MONDO:0859169 NCBIGene:90459 biolink:gene_associated_with_condition MONDO:0958005 infores:ubergraph knowledge_assertion manual_agent HGNC:23994 MONDO:0958005 NCBIGene:760 biolink:gene_associated_with_condition MONDO:0009818 infores:clingen HGNC:1373 MONDO:0009818 Definitive 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55a34937-7d48-45b0-a6c8-8d799f0d5934-2024-06-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4647 biolink:gene_associated_with_condition MONDO:0700087 infores:ubergraph knowledge_assertion manual_agent HGNC:7606 MONDO:0700087 NCBIGene:55691 biolink:gene_associated_with_condition MONDO:0014787 infores:ubergraph knowledge_assertion manual_agent HGNC:25491 MONDO:0014787 NCBIGene:22999 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen NCBIGene:22999 MONDO:0005258 true Little evidence for dosage pathogenicity 1 NCBIGene:4761 biolink:gene_associated_with_condition MONDO:0032710 infores:ubergraph knowledge_assertion manual_agent HGNC:7763 MONDO:0032710 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0021569 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0021569 NCBIGene:55343 biolink:gene_associated_with_condition MONDO:0009953 infores:ubergraph knowledge_assertion manual_agent HGNC:20197 MONDO:0009953 NCBIGene:3752 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:6239 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10151 AD Autosomal Dominant 0000006 NCBIGene:64208 biolink:gene_associated_with_condition MONDO:0030014 infores:ubergraph knowledge_assertion manual_agent HGNC:17649 MONDO:0030014 NCBIGene:83894 biolink:gene_associated_with_condition MONDO:0032896 infores:ubergraph knowledge_assertion manual_agent HGNC:29936 MONDO:0032896 NCBIGene:23165 biolink:gene_associated_with_condition MONDO:0014818 infores:clingen HGNC:18658 MONDO:0014818 Limited 2022-09-27T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31bb58ab-3105-4a05-a0ef-6534692e9be7-2022-09-27T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:8239 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8239 MONDO:0700096 No evidence available 0 true NCBIGene:6496 biolink:gene_associated_with_condition MONDO:0007999 infores:clingen NCBIGene:6496 MONDO:0007999 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10210 biolink:gene_associated_with_condition MONDO:0700233 infores:ubergraph knowledge_assertion manual_agent HGNC:21653 MONDO:0700233 NCBIGene:2147 biolink:gene_associated_with_condition MONDO:0008559 infores:clingen HGNC:3535 MONDO:0008559 Definitive 2020-06-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6389b3a3-ef86-4588-9be8-eb79dcb8d3cd-2020-06-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84823 biolink:gene_associated_with_condition MONDO:0014685 infores:ubergraph knowledge_assertion manual_agent HGNC:6638 MONDO:0014685 NCBIGene:7046 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:11772 MONDO:0019625 Definitive 2016-10-12T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8255 AD Autosomal Dominant 0000006 NCBIGene:170691 biolink:gene_associated_with_condition MONDO:0013176 infores:ubergraph knowledge_assertion manual_agent HGNC:17109 MONDO:0013176 NCBIGene:2158 biolink:gene_associated_with_condition MONDO:0010432 infores:ubergraph knowledge_assertion manual_agent HGNC:3551 MONDO:0010432 NCBIGene:3339 biolink:gene_associated_with_condition MONDO:0009140 infores:clingen HGNC:5273 MONDO:0009140 Definitive 2022-05-21T03:00:11.112Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b601b27a-7ba4-4111-a524-b55cbb86eaa5-2022-05-21T030011.112Z AR Autosomal Recessive 0000007 NCBIGene:51116 biolink:gene_associated_with_condition MONDO:0054781 infores:ubergraph knowledge_assertion manual_agent HGNC:14495 MONDO:0054781 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0008082 infores:ubergraph knowledge_assertion manual_agent HGNC:9967 MONDO:0008082 NCBIGene:90624 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:28072 MONDO:0044970 Definitive 2022-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac7b4d77-f1e5-4b7a-a7c4-e37db6c49026-2022-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3209 biolink:gene_associated_with_condition MONDO:0008301 infores:ubergraph knowledge_assertion manual_agent HGNC:5102 MONDO:0008301 NCBIGene:23396 biolink:gene_associated_with_condition MONDO:0012656 infores:clingen NCBIGene:23396 MONDO:0012656 Gene associated with autosomal recessive phenotype 30 NCBIGene:23065 biolink:gene_associated_with_condition MONDO:0014811 infores:ubergraph knowledge_assertion manual_agent HGNC:28957 MONDO:0014811 NCBIGene:55130 biolink:gene_associated_with_condition MONDO:0014193 infores:clingen HGNC:25583 MONDO:0014193 Definitive 2022-12-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ac46902-bffa-46f9-bc0d-081e6461d5e2-2022-12-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55906 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55906 MONDO:0700096 No evidence available 0 true NCBIGene:311 biolink:gene_associated_with_condition MONDO:0027694 infores:ubergraph knowledge_assertion manual_agent HGNC:535 MONDO:0027694 NCBIGene:3339 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3339 MONDO:0700096 No evidence available 0 true NCBIGene:57582 biolink:gene_associated_with_condition MONDO:0020072 infores:clingen HGNC:18865 MONDO:0020072 Definitive 2022-08-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1fe70b9-1f8b-4fbf-b79f-9f05dfbcf01c-2022-08-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0021056 infores:ubergraph knowledge_assertion manual_agent HGNC:583 MONDO:0021056 NCBIGene:59344 biolink:gene_associated_with_condition MONDO:0011680 infores:ubergraph knowledge_assertion manual_agent HGNC:13743 MONDO:0011680 NCBIGene:6844 biolink:gene_associated_with_condition MONDO:0032900 infores:ubergraph knowledge_assertion manual_agent HGNC:12643 MONDO:0032900 NCBIGene:55315 biolink:gene_associated_with_condition MONDO:0011273 infores:ubergraph knowledge_assertion manual_agent HGNC:23096 MONDO:0011273 NCBIGene:1289 biolink:gene_associated_with_condition MONDO:0019567 infores:ubergraph knowledge_assertion manual_agent HGNC:2209 MONDO:0019567 NCBIGene:55746 biolink:gene_associated_with_condition MONDO:0032581 infores:ubergraph knowledge_assertion manual_agent HGNC:18016 MONDO:0032581 NCBIGene:57217 biolink:gene_associated_with_condition MONDO:0800030 infores:ubergraph knowledge_assertion manual_agent HGNC:19750 MONDO:0800030 NCBIGene:4538 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7459 MONDO:0009723 Definitive 2021-05-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f05be3e5-352f-49a5-84af-8846d6839373-2021-05-17T040000.000Z MT Mitochondrial 0001427 NCBIGene:27185 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27185 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:91574 biolink:gene_associated_with_condition MONDO:0014020 infores:ubergraph knowledge_assertion manual_agent HGNC:26784 MONDO:0014020 NCBIGene:84168 biolink:gene_associated_with_condition MONDO:0009263 infores:ubergraph knowledge_assertion manual_agent HGNC:21014 MONDO:0009263 NCBIGene:70 biolink:gene_associated_with_condition MONDO:0013011 infores:ubergraph knowledge_assertion manual_agent HGNC:143 MONDO:0013011 NCBIGene:9354 biolink:gene_associated_with_condition MONDO:0859207 infores:ubergraph knowledge_assertion manual_agent HGNC:12499 MONDO:0859207 NCBIGene:25973 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:30563 MONDO:0044970 Moderate 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8d59b26-84ba-413d-a79f-27903c863356-2022-06-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5626 biolink:gene_associated_with_condition MONDO:0009878 infores:clingen NCBIGene:5626 MONDO:0009878 Gene associated with autosomal recessive phenotype 30 NCBIGene:720 biolink:gene_associated_with_condition MONDO:0013721 infores:ubergraph knowledge_assertion manual_agent HGNC:1323 MONDO:0013721 NCBIGene:55084 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55084 MONDO:0700096 No evidence available 0 true NCBIGene:919 biolink:gene_associated_with_condition MONDO:0012426 infores:ubergraph knowledge_assertion manual_agent HGNC:1677 MONDO:0012426 NCBIGene:10529 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10529 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:8506 biolink:gene_associated_with_condition MONDO:0020766 infores:ubergraph knowledge_assertion manual_agent HGNC:8011 MONDO:0020766 NCBIGene:2997 biolink:gene_associated_with_condition MONDO:0012693 infores:clingen HGNC:4706 MONDO:0012693 Definitive 2024-02-12T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b85c829-f66a-4c23-8a59-58f17bdaefb0-2024-02-12T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:367 biolink:gene_associated_with_condition MONDO:0010735 infores:ubergraph knowledge_assertion manual_agent HGNC:644 MONDO:0010735 NCBIGene:4261 biolink:gene_associated_with_condition MONDO:0971005 infores:ubergraph knowledge_assertion manual_agent HGNC:7067 MONDO:0971005 NCBIGene:1594 biolink:gene_associated_with_condition MONDO:0020723 infores:ubergraph knowledge_assertion manual_agent HGNC:2606 MONDO:0020723 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6833 MONDO:0700096 No evidence available 0 true NCBIGene:79133 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79133 MONDO:0700096 No evidence available 0 true NCBIGene:4909 biolink:gene_associated_with_condition MONDO:0013134 infores:clingen HGNC:8024 MONDO:0013134 Disputed 2022-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_144eb479-2c08-47cd-a6d2-8e1abef5cf54-2022-12-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0008915 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0008915 NCBIGene:2719 biolink:gene_associated_with_condition MONDO:0010731 infores:clingen HGNC:4451 MONDO:0010731 Definitive 2019-12-31T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b8b02d6-1d60-4b4c-bb8a-b976907087c7-2019-12-31T110000.000Z XL X-linked 0001417 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen HGNC:6263 MONDO:0017990 Disputed 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f2490f-215e-427e-be7b-6a68e3f89e32-2021-01-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:51259 biolink:gene_associated_with_condition MONDO:0011296 infores:ubergraph knowledge_assertion manual_agent HGNC:25018 MONDO:0011296 NCBIGene:6904 biolink:gene_associated_with_condition MONDO:0044646 infores:clingen HGNC:11581 MONDO:0044646 Definitive 2025-03-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1ac5fbd-0d8e-4b6e-a8c4-d21f966a350f-2025-03-13T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:1351 biolink:gene_associated_with_condition MONDO:0033650 infores:ubergraph knowledge_assertion manual_agent HGNC:2294 MONDO:0033650 NCBIGene:7222 biolink:gene_associated_with_condition MONDO:0014626 infores:ubergraph knowledge_assertion manual_agent HGNC:12335 MONDO:0014626 NCBIGene:8322 biolink:gene_associated_with_condition MONDO:1040041 infores:clingen HGNC:4042 MONDO:1040041 Definitive 2024-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2da74e15-54c4-405c-aa44-301f4717087d-2024-04-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4352 biolink:gene_associated_with_condition MONDO:0800452 infores:ubergraph knowledge_assertion manual_agent HGNC:7217 MONDO:0800452 NCBIGene:5009 biolink:gene_associated_with_condition MONDO:0010703 infores:clingen NCBIGene:5009 MONDO:0010703 Definitive 2019-10-29T18:13:25.783Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132fafbf-bb34-447c-9f6a-65803679eeb8-2019-10-29T181325.783Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:25821 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25821 MONDO:0700096 No evidence available 0 true NCBIGene:5313 biolink:gene_associated_with_condition MONDO:0009950 infores:ubergraph knowledge_assertion manual_agent HGNC:9020 MONDO:0009950 NCBIGene:2531 biolink:gene_associated_with_condition MONDO:0033014 infores:clingen HGNC:4021 MONDO:0033014 Definitive 2020-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a5d1542-feb7-4aaf-9079-55da7fb99a4a-2020-07-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3728 biolink:gene_associated_with_condition MONDO:0012684 infores:ubergraph knowledge_assertion manual_agent HGNC:6207 MONDO:0012684 NCBIGene:5339 biolink:gene_associated_with_condition MONDO:0007555 infores:ubergraph knowledge_assertion manual_agent HGNC:9069 MONDO:0007555 NCBIGene:5376 biolink:gene_associated_with_condition MONDO:0007309 infores:clingen NCBIGene:5376 MONDO:0007309 Definitive 2022-10-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_169edbc0-b942-43f1-885d-8d47ccdb6d90-2022-10-10T160000.000Z AD Autosomal Dominant 0000006 No evidence available 0 true NCBIGene:668 biolink:gene_associated_with_condition MONDO:0007201 infores:ubergraph knowledge_assertion manual_agent HGNC:1092 MONDO:0007201 NCBIGene:51728 biolink:gene_associated_with_condition MONDO:0030263 infores:ubergraph knowledge_assertion manual_agent HGNC:14121 MONDO:0030263 NCBIGene:6716 biolink:gene_associated_with_condition MONDO:0009923 infores:ubergraph knowledge_assertion manual_agent HGNC:11285 MONDO:0009923 NCBIGene:9419 biolink:gene_associated_with_condition MONDO:0014347 infores:clingen NCBIGene:9419 MONDO:0014347 Gene associated with autosomal recessive phenotype 30 NCBIGene:4040 biolink:gene_associated_with_condition MONDO:0014749 infores:ubergraph knowledge_assertion manual_agent HGNC:6698 MONDO:0014749 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0012923 infores:ubergraph knowledge_assertion manual_agent HGNC:1527 MONDO:0012923 NCBIGene:3431 biolink:gene_associated_with_condition MONDO:0009338 infores:ubergraph knowledge_assertion manual_agent HGNC:5401 MONDO:0009338 NCBIGene:81887 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:25726 MONDO:0020119 Limited 2021-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5b85dbb-3d49-4924-8294-e518ff56f048-2021-09-21T160000.000Z XL X-linked 0001417 NCBIGene:50 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:118 MONDO:0044970 Strong 2023-10-19T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bca6e9c-e167-4862-bf45-3ec787b92f49-2023-10-19T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:5908 biolink:gene_associated_with_condition MONDO:0018795 infores:clingen HGNC:9857 MONDO:0018795 Limited 2022-09-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6140482f-8f93-47b2-9915-597da34a5975-2022-09-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9842 biolink:gene_associated_with_condition MONDO:0012679 infores:clingen HGNC:29017 MONDO:0012679 Moderate 2024-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d3ccf3-6b4a-4182-ae30-0c68c907715a-2024-03-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2674 biolink:gene_associated_with_condition MONDO:0030822 infores:ubergraph knowledge_assertion manual_agent HGNC:4243 MONDO:0030822 NCBIGene:84876 biolink:gene_associated_with_condition MONDO:0014383 infores:ubergraph knowledge_assertion manual_agent HGNC:25896 MONDO:0014383 NCBIGene:5119 biolink:gene_associated_with_condition MONDO:0013990 infores:ubergraph knowledge_assertion manual_agent HGNC:8740 MONDO:0013990 NCBIGene:64221 biolink:gene_associated_with_condition MONDO:0020790 infores:clingen NCBIGene:64221 MONDO:0020790 Definitive 2022-07-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_257a59f3-1f00-4bd8-b255-793bc692bc9c-2022-07-12T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:91754 biolink:gene_associated_with_condition MONDO:0013660 infores:ubergraph knowledge_assertion manual_agent HGNC:18591 MONDO:0013660 NCBIGene:55768 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55768 MONDO:0700096 No evidence available 0 true NCBIGene:10617 biolink:gene_associated_with_condition MONDO:0013659 infores:ubergraph knowledge_assertion manual_agent HGNC:16950 MONDO:0013659 NCBIGene:84823 biolink:gene_associated_with_condition MONDO:0100476 infores:ubergraph knowledge_assertion manual_agent HGNC:6638 MONDO:0100476 NCBIGene:79641 biolink:gene_associated_with_condition MONDO:0009185 infores:ubergraph knowledge_assertion manual_agent HGNC:29478 MONDO:0009185 NCBIGene:5078 biolink:gene_associated_with_condition MONDO:0012818 infores:ubergraph knowledge_assertion manual_agent HGNC:8618 MONDO:0012818 NCBIGene:284086 biolink:gene_associated_with_condition MONDO:0014174 infores:clingen HGNC:13387 MONDO:0014174 Definitive 2021-09-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6888a91a-6589-42a9-9622-553b4918bed6-2021-09-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4744 biolink:gene_associated_with_condition MONDO:0014836 infores:ubergraph knowledge_assertion manual_agent HGNC:7737 MONDO:0014836 NCBIGene:1296 biolink:gene_associated_with_condition MONDO:0007637 infores:ubergraph knowledge_assertion manual_agent HGNC:2216 MONDO:0007637 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010279 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010279 NCBIGene:55835 biolink:gene_associated_with_condition MONDO:0012029 infores:clingen NCBIGene:55835 MONDO:0012029 Gene associated with autosomal recessive phenotype 30 NCBIGene:8139 biolink:gene_associated_with_condition MONDO:0009749 infores:ubergraph knowledge_assertion manual_agent HGNC:4137 MONDO:0009749 NCBIGene:5888 biolink:gene_associated_with_condition MONDO:0013790 infores:ubergraph knowledge_assertion manual_agent HGNC:9817 MONDO:0013790 NCBIGene:9509 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9509 MONDO:0700096 No evidence available 0 true NCBIGene:7280 biolink:gene_associated_with_condition MONDO:0100153 infores:clingen HGNC:12412 MONDO:0100153 Definitive 2023-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cafcf34-7bc2-4b06-9455-f7fad2e0b6b5-2023-01-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84059 biolink:gene_associated_with_condition MONDO:0016484 infores:clingen NCBIGene:84059 MONDO:0016484 Definitive 2017-02-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992d2cd7-5305-4278-9601-3e59ac1a8770-2017-02-15T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57282 biolink:gene_associated_with_condition MONDO:0958278 infores:ubergraph knowledge_assertion manual_agent HGNC:13811 MONDO:0958278 NCBIGene:128486 biolink:gene_associated_with_condition MONDO:0032842 infores:clingen HGNC:16135 MONDO:0032842 Definitive 2022-10-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a18aeda-fbe1-49b3-9542-6402ea61b4c0-2022-10-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7040 biolink:gene_associated_with_condition MONDO:0007542 infores:ubergraph knowledge_assertion manual_agent HGNC:11766 MONDO:0007542 NCBIGene:22845 biolink:gene_associated_with_condition MONDO:0012556 infores:clingen HGNC:23406 MONDO:0012556 Definitive 2024-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b780e34-fb4d-47d7-8436-6bdb6025bc72-2024-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:819 biolink:gene_associated_with_condition MONDO:0859357 infores:clingen HGNC:1471 MONDO:0859357 Limited 2024-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c077f9b7-9845-44dc-8007-be476f7b291e-2024-09-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1438 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1438 MONDO:0700096 No evidence available 0 true NCBIGene:51025 biolink:gene_associated_with_condition MONDO:0013223 infores:ubergraph knowledge_assertion manual_agent HGNC:29679 MONDO:0013223 NCBIGene:5896 biolink:gene_associated_with_condition MONDO:0000572 infores:clingen NCBIGene:5896 MONDO:0000572 Definitive 2021-06-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f08ada81-650b-4764-99e4-f3156f67cbc9-2021-06-17T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1737 biolink:gene_associated_with_condition MONDO:0009502 infores:ubergraph knowledge_assertion manual_agent HGNC:2896 MONDO:0009502 NCBIGene:85459 biolink:gene_associated_with_condition MONDO:0958328 infores:ubergraph knowledge_assertion manual_agent HGNC:29366 MONDO:0958328 NCBIGene:55212 biolink:gene_associated_with_condition MONDO:1040042 infores:clingen HGNC:18758 MONDO:1040042 Definitive 2023-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a09e1836-927c-424d-b10c-fd93f3e6dc6b-2023-09-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4149 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4149 MONDO:0700096 No evidence available 0 true NCBIGene:3123 biolink:gene_associated_with_condition MONDO:0008399 infores:ubergraph knowledge_assertion manual_agent HGNC:4948 MONDO:0008399 NCBIGene:23312 biolink:gene_associated_with_condition MONDO:0032858 infores:ubergraph knowledge_assertion manual_agent HGNC:2938 MONDO:0032858 NCBIGene:124404 biolink:gene_associated_with_condition MONDO:0013901 infores:ubergraph knowledge_assertion manual_agent HGNC:26348 MONDO:0013901 NCBIGene:10806 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10806 MONDO:0700096 No evidence available 0 true NCBIGene:6935 biolink:gene_associated_with_condition MONDO:0012200 infores:ubergraph knowledge_assertion manual_agent HGNC:11642 MONDO:0012200 NCBIGene:641339 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:641339 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7428 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7428 MONDO:0700096 No evidence available 0 true NCBIGene:1285 biolink:gene_associated_with_condition MONDO:0008762 infores:clingen NCBIGene:1285 MONDO:0008762 Gene associated with autosomal recessive phenotype 30 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6324 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:387733 biolink:gene_associated_with_condition MONDO:0012591 infores:ubergraph knowledge_assertion manual_agent HGNC:16644 MONDO:0012591 NCBIGene:137814 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:32940 MONDO:0005453 Limited 2024-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3910a6d-6df0-419b-8dee-e5075bfee8f8-2024-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:80821 biolink:gene_associated_with_condition MONDO:0012256 infores:clingen NCBIGene:80821 MONDO:0012256 Gene associated with autosomal recessive phenotype 30 NCBIGene:2055 biolink:gene_associated_with_condition MONDO:0010830 infores:clingen NCBIGene:2055 MONDO:0010830 Gene associated with autosomal recessive phenotype 30 NCBIGene:2324 biolink:gene_associated_with_condition MONDO:0007919 infores:ubergraph knowledge_assertion manual_agent HGNC:3767 MONDO:0007919 NCBIGene:2736 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2736 MONDO:0700096 No evidence available 0 true NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0011481 infores:ubergraph knowledge_assertion manual_agent HGNC:7392 MONDO:0011481 NCBIGene:1495 biolink:gene_associated_with_condition MONDO:0100256 infores:clingen HGNC:2509 MONDO:0100256 Definitive 2023-07-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9de9839-f329-4814-94af-bcce2f5d1be4-2023-07-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:135935 biolink:gene_associated_with_condition MONDO:0012689 infores:ubergraph knowledge_assertion manual_agent HGNC:22448 MONDO:0012689 NCBIGene:84665 biolink:gene_associated_with_condition MONDO:0015023 infores:ubergraph knowledge_assertion manual_agent HGNC:23246 MONDO:0015023 NCBIGene:79759 biolink:gene_associated_with_condition MONDO:0859350 infores:ubergraph knowledge_assertion manual_agent HGNC:25821 MONDO:0859350 NCBIGene:80347 biolink:gene_associated_with_condition MONDO:0014290 infores:ubergraph knowledge_assertion manual_agent HGNC:29932 MONDO:0014290 NCBIGene:718 biolink:gene_associated_with_condition MONDO:0013892 infores:clingen HGNC:1318 MONDO:0013892 Moderate 2024-03-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e000b88-9487-46a6-830a-7a613152853d-2024-03-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10588 biolink:gene_associated_with_condition MONDO:0032705 infores:ubergraph knowledge_assertion manual_agent HGNC:7437 MONDO:0032705 NCBIGene:114327 biolink:gene_associated_with_condition MONDO:0009696 infores:ubergraph knowledge_assertion manual_agent HGNC:16406 MONDO:0009696 NCBIGene:668 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:668 MONDO:0700096 No evidence available 0 true NCBIGene:83737 biolink:gene_associated_with_condition MONDO:0013245 infores:clingen NCBIGene:83737 MONDO:0013245 Definitive 2025-10-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00d5cbfd-6118-48c7-b0d1-393f3e001118-2025-10-20T050000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4043 biolink:gene_associated_with_condition MONDO:0014183 infores:ubergraph knowledge_assertion manual_agent HGNC:6701 MONDO:0014183 NCBIGene:83548 biolink:gene_associated_with_condition MONDO:0957820 infores:ubergraph knowledge_assertion manual_agent HGNC:18619 MONDO:0957820 NCBIGene:5244 biolink:gene_associated_with_condition MONDO:0011214 infores:clingen HGNC:45 MONDO:0011214 Definitive 2022-11-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_009134d7-b79c-4a90-9bae-c1f302439258-2022-11-23T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6812 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:11444 MONDO:0100062 Definitive 2017-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8d21800-652f-431b-a5d8-4208d4e91d46-2017-10-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2626 biolink:gene_associated_with_condition MONDO:0014239 infores:ubergraph knowledge_assertion manual_agent HGNC:4173 MONDO:0014239 NCBIGene:3426 biolink:gene_associated_with_condition MONDO:0014189 infores:ubergraph knowledge_assertion manual_agent HGNC:5394 MONDO:0014189 NCBIGene:9378 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9378 MONDO:0700096 No evidence available 0 true NCBIGene:116150 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:116150 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23556 biolink:gene_associated_with_condition MONDO:0013563 infores:clingen NCBIGene:23556 MONDO:0013563 Definitive 2022-04-28T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_252393aa-6a56-483e-a353-6dbe2cd99e84-2022-04-28T060000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10841 biolink:gene_associated_with_condition MONDO:0009240 infores:ubergraph knowledge_assertion manual_agent HGNC:3974 MONDO:0009240 NCBIGene:1778 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1778 MONDO:0700096 No evidence available 0 true NCBIGene:1120 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1120 MONDO:0700096 No evidence available 0 true NCBIGene:158866 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:20342 MONDO:0100148 Disputed 2021-07-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2519945-2acd-4484-9811-487ff5189da9-2021-07-30T160000.000Z XL X-linked 0001417 NCBIGene:116150 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:116150 MONDO:0700096 No evidence available 0 true NCBIGene:2624 biolink:gene_associated_with_condition MONDO:0013540 infores:clingen NCBIGene:2624 MONDO:0013540 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5130 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5130 MONDO:0700096 No evidence available 0 true NCBIGene:79600 biolink:gene_associated_with_condition MONDO:0013608 infores:ubergraph knowledge_assertion manual_agent HGNC:26113 MONDO:0013608 NCBIGene:50964 biolink:gene_associated_with_condition MONDO:0021021 infores:ubergraph knowledge_assertion manual_agent HGNC:13771 MONDO:0021021 NCBIGene:5251 biolink:gene_associated_with_condition MONDO:0010619 infores:clingen NCBIGene:5251 MONDO:0010619 Definitive 2025-05-15T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b966545-e9dc-4a75-8d6a-91b328bc4854-2025-05-15T060000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:25939 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25939 MONDO:0700096 No evidence available 0 true NCBIGene:3248 biolink:gene_associated_with_condition MONDO:0007343 infores:ubergraph knowledge_assertion manual_agent HGNC:5154 MONDO:0007343 NCBIGene:58499 biolink:gene_associated_with_condition MONDO:0032836 infores:clingen NCBIGene:58499 MONDO:0032836 Definitive 2020-08-25T13:10:51.689Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fb3ee56-12be-4418-bd85-56e7958ac601-2020-08-25T131051.689Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2272 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2272 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:84065 biolink:gene_associated_with_condition MONDO:0859176 infores:ubergraph knowledge_assertion manual_agent HGNC:25363 MONDO:0859176 NCBIGene:7809 biolink:gene_associated_with_condition MONDO:0011242 infores:ubergraph knowledge_assertion manual_agent HGNC:16512 MONDO:0011242 NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0009837 infores:ubergraph knowledge_assertion manual_agent HGNC:11998 MONDO:0009837 NCBIGene:54517 biolink:gene_associated_with_condition MONDO:0032687 infores:ubergraph knowledge_assertion manual_agent HGNC:26033 MONDO:0032687 NCBIGene:5296 biolink:gene_associated_with_condition MONDO:0011313 infores:ubergraph knowledge_assertion manual_agent HGNC:8980 MONDO:0011313 NCBIGene:57592 biolink:gene_associated_with_condition MONDO:0014792 infores:ubergraph knowledge_assertion manual_agent HGNC:29277 MONDO:0014792 NCBIGene:1180 biolink:gene_associated_with_condition MONDO:0008055 infores:ubergraph knowledge_assertion manual_agent HGNC:2019 MONDO:0008055 NCBIGene:8737 biolink:gene_associated_with_condition MONDO:0030018 infores:ubergraph knowledge_assertion manual_agent HGNC:10019 MONDO:0030018 NCBIGene:55697 biolink:gene_associated_with_condition MONDO:0014889 infores:ubergraph knowledge_assertion manual_agent HGNC:25507 MONDO:0014889 NCBIGene:477 biolink:gene_associated_with_condition MONDO:0011232 infores:ubergraph knowledge_assertion manual_agent HGNC:800 MONDO:0011232 NCBIGene:26047 biolink:gene_associated_with_condition MONDO:0012400 infores:ubergraph knowledge_assertion manual_agent HGNC:13830 MONDO:0012400 NCBIGene:25 biolink:gene_associated_with_condition MONDO:0060532 infores:ubergraph knowledge_assertion manual_agent HGNC:76 MONDO:0060532 NCBIGene:3082 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:4893 MONDO:0019497 Moderate 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8828a306-1262-4bbf-9661-f3d13d0f44a7-2024-06-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:170691 biolink:gene_associated_with_condition MONDO:0013176 infores:clingen NCBIGene:170691 MONDO:0013176 Gene associated with autosomal recessive phenotype 30 NCBIGene:57122 biolink:gene_associated_with_condition MONDO:0014752 infores:ubergraph knowledge_assertion manual_agent HGNC:29914 MONDO:0014752 NCBIGene:5696 biolink:gene_associated_with_condition MONDO:0054698 infores:ubergraph knowledge_assertion manual_agent HGNC:9545 MONDO:0054698 NCBIGene:5745 biolink:gene_associated_with_condition MONDO:0010803 infores:ubergraph knowledge_assertion manual_agent HGNC:9608 MONDO:0010803 NCBIGene:10892 biolink:gene_associated_with_condition MONDO:0014197 infores:ubergraph knowledge_assertion manual_agent HGNC:6819 MONDO:0014197 NCBIGene:100 biolink:gene_associated_with_condition MONDO:0007064 infores:clingen HGNC:186 MONDO:0007064 Definitive 2020-11-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664ba77c-3db6-47da-941e-316ac819432a-2020-11-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3291 biolink:gene_associated_with_condition MONDO:0009025 infores:ubergraph knowledge_assertion manual_agent HGNC:5209 MONDO:0009025 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0014676 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0014676 NCBIGene:54 biolink:gene_associated_with_condition MONDO:0011939 infores:clingen NCBIGene:54 MONDO:0011939 Gene associated with autosomal recessive phenotype 30 NCBIGene:149461 biolink:gene_associated_with_condition MONDO:0009548 infores:ubergraph knowledge_assertion manual_agent HGNC:2040 MONDO:0009548 NCBIGene:5459 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5459 MONDO:0700096 No evidence available 0 true NCBIGene:3614 biolink:gene_associated_with_condition MONDO:1040051 infores:clingen HGNC:6052 MONDO:1040051 Definitive 2024-02-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04d85991-25a4-4da6-8090-65b8cfb771cd-2024-02-01T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0012504 infores:clingen HGNC:3690 MONDO:0012504 Moderate 2022-06-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90130560-3e24-46a9-beaa-c67792773d3d-2022-06-07T040000.000Z SD Semidominant 0032113 NCBIGene:344 biolink:gene_associated_with_condition MONDO:0008810 infores:ubergraph knowledge_assertion manual_agent HGNC:609 MONDO:0008810 NCBIGene:9445 biolink:gene_associated_with_condition MONDO:0014483 infores:ubergraph knowledge_assertion manual_agent HGNC:6174 MONDO:0014483 NCBIGene:8891 biolink:gene_associated_with_condition MONDO:0957871 infores:ubergraph knowledge_assertion manual_agent HGNC:3259 MONDO:0957871 NCBIGene:659 biolink:gene_associated_with_condition MONDO:0020713 infores:ubergraph knowledge_assertion manual_agent HGNC:1078 MONDO:0020713 NCBIGene:5053 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5053 MONDO:0700096 No evidence available 0 true NCBIGene:84634 biolink:gene_associated_with_condition MONDO:0008302 infores:ubergraph knowledge_assertion manual_agent HGNC:4510 MONDO:0008302 NCBIGene:6337 biolink:gene_associated_with_condition MONDO:0013087 infores:ubergraph knowledge_assertion manual_agent HGNC:10599 MONDO:0013087 NCBIGene:2720 biolink:gene_associated_with_condition MONDO:0009660 infores:ubergraph knowledge_assertion manual_agent HGNC:4298 MONDO:0009660 NCBIGene:8450 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8450 MONDO:0700096 No evidence available 0 true NCBIGene:1491 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1491 MONDO:0700096 No evidence available 0 true NCBIGene:7841 biolink:gene_associated_with_condition MONDO:0011629 infores:clingen HGNC:24862 MONDO:0011629 Definitive 2021-07-20T13:07:42.194Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a628248-c2f9-4d31-b614-e082e3f83416-2021-07-20T130742.194Z AR Autosomal Recessive 0000007 NCBIGene:26278 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26278 MONDO:0700096 No evidence available 0 true NCBIGene:7134 biolink:gene_associated_with_condition MONDO:0012745 infores:ubergraph knowledge_assertion manual_agent HGNC:11943 MONDO:0012745 NCBIGene:4131 biolink:gene_associated_with_condition MONDO:0020341 infores:clingen HGNC:6836 MONDO:0020341 Strong 2024-07-09T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c522c71-4e46-4c95-b3ed-1063d4880ef5-2024-07-09T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:2639 biolink:gene_associated_with_condition MONDO:0009281 infores:ubergraph knowledge_assertion manual_agent HGNC:4189 MONDO:0009281 NCBIGene:11284 biolink:gene_associated_with_condition MONDO:0014557 infores:ubergraph knowledge_assertion manual_agent HGNC:9154 MONDO:0014557 NCBIGene:2779 biolink:gene_associated_with_condition MONDO:0012497 infores:ubergraph knowledge_assertion manual_agent HGNC:4393 MONDO:0012497 NCBIGene:51741 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:12799 MONDO:0100062 Definitive 2021-08-03T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9da233ef-bf3b-43c5-b82c-c7a6ea4dd5a6-2021-08-03T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:2744 biolink:gene_associated_with_condition MONDO:0032685 infores:clingen HGNC:4331 MONDO:0032685 Limited 2024-07-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a699ec-3d67-4e18-a0da-464c2832c4ec-2024-07-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9414 biolink:gene_associated_with_condition MONDO:0031446 infores:ubergraph knowledge_assertion manual_agent HGNC:11828 MONDO:0031446 NCBIGene:5054 biolink:gene_associated_with_condition MONDO:0013227 infores:clingen NCBIGene:5054 MONDO:0013227 Definitive 2023-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33baf899-f63b-42ed-b2fd-689cca44a7b6-2023-11-06T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:25836 biolink:gene_associated_with_condition MONDO:0007387 infores:clingen NCBIGene:25836 MONDO:0007387 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:7989 MONDO:0009026 Limited 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28526e91-0db9-4724-94f3-e4222ace602c-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:81494 biolink:gene_associated_with_condition MONDO:0013892 infores:ubergraph knowledge_assertion manual_agent HGNC:24668 MONDO:0013892 NCBIGene:2799 biolink:gene_associated_with_condition MONDO:0009658 infores:ubergraph knowledge_assertion manual_agent HGNC:4422 MONDO:0009658 NCBIGene:4868 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4868 MONDO:0700096 No evidence available 0 true NCBIGene:2767 biolink:gene_associated_with_condition MONDO:0014146 infores:ubergraph knowledge_assertion manual_agent HGNC:4379 MONDO:0014146 NCBIGene:859 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:1529 MONDO:0002442 Limited 2020-12-15T00:28:55.870Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74aabddc-3402-46de-ba1e-f66aa273cd9c-2020-12-15T002855.870Z AD Autosomal Dominant 0000006 NCBIGene:2539 biolink:gene_associated_with_condition MONDO:0010480 infores:clingen HGNC:4057 MONDO:0010480 Definitive 2023-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb70a1c4-e861-4c45-adc6-9afc82f4a7a0-2023-06-23T160000.000Z XL X-linked 0001417 NCBIGene:5159 biolink:gene_associated_with_condition MONDO:0011150 infores:ubergraph knowledge_assertion manual_agent HGNC:8804 MONDO:0011150 NCBIGene:9907 biolink:gene_associated_with_condition MONDO:0019064 infores:clingen HGNC:22197 MONDO:0019064 Definitive 2022-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_020a234e-180c-4d9f-8f04-bd79eac6046e-2022-09-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:25913 biolink:gene_associated_with_condition MONDO:0014368 infores:clingen NCBIGene:25913 MONDO:0014368 Some evidence for dosage pathogenicity 2 NCBIGene:3762 biolink:gene_associated_with_condition MONDO:0013359 infores:ubergraph knowledge_assertion manual_agent HGNC:6266 MONDO:0013359 NCBIGene:25861 biolink:gene_associated_with_condition MONDO:0012662 infores:ubergraph knowledge_assertion manual_agent HGNC:16361 MONDO:0012662 NCBIGene:5264 biolink:gene_associated_with_condition MONDO:0100258 infores:ubergraph knowledge_assertion manual_agent HGNC:8940 MONDO:0100258 NCBIGene:6335 biolink:gene_associated_with_condition MONDO:0008179 infores:ubergraph knowledge_assertion manual_agent HGNC:10597 MONDO:0008179 NCBIGene:29899 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29899 MONDO:0700096 No evidence available 0 true NCBIGene:22866 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22866 MONDO:0700096 No evidence available 0 true NCBIGene:79827 biolink:gene_associated_with_condition MONDO:0020718 infores:ubergraph knowledge_assertion manual_agent HGNC:24039 MONDO:0020718 NCBIGene:121391 biolink:gene_associated_with_condition MONDO:0013514 infores:ubergraph knowledge_assertion manual_agent HGNC:28929 MONDO:0013514 NCBIGene:7025 biolink:gene_associated_with_condition MONDO:0014320 infores:ubergraph knowledge_assertion manual_agent HGNC:7975 MONDO:0014320 NCBIGene:3767 biolink:gene_associated_with_condition MONDO:0014589 infores:ubergraph knowledge_assertion manual_agent HGNC:6257 MONDO:0014589 NCBIGene:5429 biolink:gene_associated_with_condition MONDO:0010214 infores:clingen NCBIGene:5429 MONDO:0010214 Definitive 2018-11-02T21:58:46.146Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdb29404-0c05-4519-b6ee-8591368ad1ff-2018-11-02T215846.146Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7837 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7837 MONDO:0700096 No evidence available 0 true NCBIGene:9215 biolink:gene_associated_with_condition MONDO:0013158 infores:ubergraph knowledge_assertion manual_agent HGNC:6511 MONDO:0013158 NCBIGene:3766 biolink:gene_associated_with_condition MONDO:0023069 infores:clingen HGNC:6256 MONDO:0023069 Disputed 2018-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09f81c95-1213-4029-a6bd-279e52f240c7-2018-02-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0008817 infores:clingen HGNC:3356 MONDO:0008817 Definitive 2022-06-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50cf1e96-1629-41c5-a5db-1c37e8b24aaa-2022-06-17T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3481 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3481 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1741 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen NCBIGene:1741 MONDO:0019181 Definitive 2018-08-24T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e73a08f0-ff3a-4328-9020-89102296e405-2018-08-24T100000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55869 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55869 MONDO:0700096 No evidence available 0 true NCBIGene:50717 biolink:gene_associated_with_condition MONDO:0012411 infores:ubergraph knowledge_assertion manual_agent HGNC:24891 MONDO:0012411 NCBIGene:5015 biolink:gene_associated_with_condition MONDO:0013518 infores:ubergraph knowledge_assertion manual_agent HGNC:8522 MONDO:0013518 NCBIGene:692053 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:692053 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:87178 biolink:gene_associated_with_condition MONDO:0012103 infores:ubergraph knowledge_assertion manual_agent HGNC:23166 MONDO:0012103 NCBIGene:3704 biolink:gene_associated_with_condition MONDO:0014719 infores:ubergraph knowledge_assertion manual_agent HGNC:6176 MONDO:0014719 NCBIGene:81031 biolink:gene_associated_with_condition MONDO:0008818 infores:clingen NCBIGene:81031 MONDO:0008818 Definitive 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80a24753-e6d3-41cb-85ba-85a2eae3ddb6-2024-11-07T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57731 biolink:gene_associated_with_condition MONDO:0060496 infores:ubergraph knowledge_assertion manual_agent HGNC:14896 MONDO:0060496 NCBIGene:1392 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:2355 MONDO:0005027 Refuted 2021-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1719f97-0d6c-4ed3-93bc-13cc8e1f1d6e-2021-09-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2184 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2184 MONDO:0700096 No evidence available 0 true NCBIGene:4577 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7500 MONDO:0044970 Definitive 2023-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66a243e9-fa10-490c-9c85-9725a263e598-2023-04-03T160000.000Z MT Mitochondrial 0001427 NCBIGene:5745 biolink:gene_associated_with_condition MONDO:0007434 infores:clingen NCBIGene:5745 MONDO:0007434 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4595 biolink:gene_associated_with_condition MONDO:0005575 infores:clingen HGNC:7527 MONDO:0005575 Disputed 2023-03-24T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b646b303-fb30-427c-9590-242a131624bf-2023-03-24T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:282996 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:27424 MONDO:0005021 Definitive 2020-08-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e123751-078a-4d30-9f83-847119982342-2020-08-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:64072 biolink:gene_associated_with_condition MONDO:0037940 infores:clingen NCBIGene:64072 MONDO:0037940 Gene associated with autosomal recessive phenotype 30 NCBIGene:10111 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:9816 MONDO:0016248 Refuted 2024-02-23T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef809b24-cdc2-4d5c-a1ab-5a9c2f35da54-2024-02-23T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:1630 biolink:gene_associated_with_condition MONDO:0008002 infores:ubergraph knowledge_assertion manual_agent HGNC:2701 MONDO:0008002 NCBIGene:201163 biolink:gene_associated_with_condition MONDO:0800444 infores:clingen NCBIGene:201163 MONDO:0800444 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5310 biolink:gene_associated_with_condition MONDO:0008263 infores:ubergraph knowledge_assertion manual_agent HGNC:9008 MONDO:0008263 NCBIGene:2254 biolink:gene_associated_with_condition MONDO:0017923 infores:clingen HGNC:3687 MONDO:0017923 Definitive 2025-06-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fd535ba-f5b4-469b-8866-894cf9e4e1d0-2025-06-24T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:353 biolink:gene_associated_with_condition MONDO:0013869 infores:ubergraph knowledge_assertion manual_agent HGNC:626 MONDO:0013869 NCBIGene:8736 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:7613 MONDO:0005045 Disputed 2023-02-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ff00fbf-6b20-49cd-8af8-0f6404240db5-2023-02-23T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:57538 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:17574 MONDO:0005045 Definitive 2022-02-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6312d79f-df12-4ec6-8ce6-0f38f19e617d-2022-02-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8565 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8565 MONDO:0700096 No evidence available 0 true NCBIGene:29071 biolink:gene_associated_with_condition MONDO:0957495 infores:ubergraph knowledge_assertion manual_agent HGNC:24338 MONDO:0957495 NCBIGene:3816 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6357 MONDO:0015924 Limited 2022-11-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d29c7f8-ced6-43b3-b124-8d4039c6f99b-2022-11-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3720 biolink:gene_associated_with_condition MONDO:0700092 infores:clingen NCBIGene:3720 MONDO:0700092 Some evidence for dosage pathogenicity 2 NCBIGene:8888 biolink:gene_associated_with_condition MONDO:0029131 infores:ubergraph knowledge_assertion manual_agent HGNC:6946 MONDO:0029131 NCBIGene:4157 biolink:gene_associated_with_condition MONDO:0013133 infores:ubergraph knowledge_assertion manual_agent HGNC:6929 MONDO:0013133 NCBIGene:92344 biolink:gene_associated_with_condition MONDO:0009271 infores:clingen NCBIGene:92344 MONDO:0009271 Definitive 2025-07-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d096a3cd-cc50-40de-abea-5cbff57f865c-2025-07-03T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:89884 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:89884 MONDO:0700096 No evidence available 0 true NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007987 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0007987 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0013673 infores:clingen HGNC:12762 MONDO:0013673 Definitive 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17637c9d-03fb-496a-a00c-ae2431f441e8-2024-06-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8763 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:1632 MONDO:0019587 Moderate 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9524ca4-7d17-4691-b650-0d457531c7fd-2024-06-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55863 biolink:gene_associated_with_condition MONDO:0032633 infores:ubergraph knowledge_assertion manual_agent HGNC:30883 MONDO:0032633 NCBIGene:6785 biolink:gene_associated_with_condition MONDO:0700227 infores:clingen HGNC:14415 MONDO:0700227 Definitive 2023-02-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b9daf74-594d-4f11-b322-d671266ebf8e-2023-02-02T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:220082 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:220082 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:4778 biolink:gene_associated_with_condition MONDO:0002049 infores:clingen HGNC:7780 MONDO:0002049 Limited 2025-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0bfed63-0fd3-44a8-abc3-91207b5564e8-2025-06-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0009406 infores:ubergraph knowledge_assertion manual_agent HGNC:60 MONDO:0009406 NCBIGene:6605 biolink:gene_associated_with_condition MONDO:0011789 infores:clingen NCBIGene:6605 MONDO:0011789 Definitive 2020-07-30T21:16:30.144Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01e68b67-987e-48ec-a167-cb659cc245e9-2020-07-30T211630.144Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51633 biolink:gene_associated_with_condition MONDO:0044319 infores:ubergraph knowledge_assertion manual_agent HGNC:24281 MONDO:0044319 NCBIGene:6616 biolink:gene_associated_with_condition MONDO:0014590 infores:ubergraph knowledge_assertion manual_agent HGNC:11132 MONDO:0014590 NCBIGene:54941 biolink:gene_associated_with_condition MONDO:0014553 infores:ubergraph knowledge_assertion manual_agent HGNC:21150 MONDO:0014553 NCBIGene:546 biolink:gene_associated_with_condition MONDO:0010328 infores:ubergraph knowledge_assertion manual_agent HGNC:886 MONDO:0010328 NCBIGene:7428 biolink:gene_associated_with_condition MONDO:0008667 infores:clingen NCBIGene:7428 MONDO:0008667 Definitive 2020-05-14T00:41:16.004Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30c04ced-b74d-465a-8d7d-eb822109b7f1-2020-05-14T004116.004Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:24140 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:24140 MONDO:0700096 No evidence available 0 true NCBIGene:64221 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64221 MONDO:0700096 No evidence available 0 true NCBIGene:79705 biolink:gene_associated_with_condition MONDO:0014080 infores:ubergraph knowledge_assertion manual_agent HGNC:18608 MONDO:0014080 NCBIGene:4739 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4739 MONDO:0700096 No evidence available 0 true NCBIGene:3674 biolink:gene_associated_with_condition MONDO:0008552 infores:clingen HGNC:6138 MONDO:0008552 Definitive 2023-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_380c4fb9-aa51-4d34-9349-7938667612b7-2023-11-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23019 biolink:gene_associated_with_condition MONDO:0032787 infores:clingen HGNC:7877 MONDO:0032787 Limited 2023-09-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d394c9-60fe-40cb-918b-9790a08873d9-2023-09-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6652 biolink:gene_associated_with_condition MONDO:0030055 infores:ubergraph knowledge_assertion manual_agent HGNC:11184 MONDO:0030055 NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0009154 infores:ubergraph knowledge_assertion manual_agent HGNC:2488 MONDO:0009154 NCBIGene:79695 biolink:gene_associated_with_condition MONDO:0012132 infores:clingen NCBIGene:79695 MONDO:0012132 Limited 2017-06-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8435 AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:56922 biolink:gene_associated_with_condition MONDO:0008861 infores:ubergraph knowledge_assertion manual_agent HGNC:6936 MONDO:0008861 NCBIGene:4564 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7487 MONDO:0044970 Definitive 2022-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_debb8afe-e379-465f-8b74-0241e1b14f8a-2022-11-07T170000.000Z MT Mitochondrial 0001427 NCBIGene:3911 biolink:gene_associated_with_condition MONDO:0031061 infores:ubergraph knowledge_assertion manual_agent HGNC:6485 MONDO:0031061 NCBIGene:23426 biolink:gene_associated_with_condition MONDO:0054737 infores:clingen NCBIGene:23426 MONDO:0054737 Gene associated with autosomal recessive phenotype 30 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0007850 infores:ubergraph knowledge_assertion manual_agent HGNC:4284 MONDO:0007850 NCBIGene:402381 biolink:gene_associated_with_condition MONDO:0020855 infores:ubergraph knowledge_assertion manual_agent HGNC:27845 MONDO:0020855 NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1277 MONDO:0700096 No evidence available 0 true NCBIGene:83605 biolink:gene_associated_with_condition MONDO:0011304 infores:clingen HGNC:21708 MONDO:0011304 Definitive 2025-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1013c58b-cea9-4e16-b68a-91a8a18bf989-2025-05-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1759 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen NCBIGene:1759 MONDO:0100062 Moderate 2024-02-06T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d252b0e-4777-4fbf-a23f-4ea7175b37d5-2024-02-06T200000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0019659 infores:clingen HGNC:3688 MONDO:0019659 Definitive 2021-05-21T22:44:33.397Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fef65d0-f73c-45fe-968e-86073674cb7e-2021-05-21T224433.397Z AD Autosomal Dominant 0000006 NCBIGene:5313 biolink:gene_associated_with_condition MONDO:0009950 infores:clingen HGNC:9020 MONDO:0009950 Definitive 2024-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35a6386b-dc76-4382-b3a9-2e67c1407bc2-2024-02-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:57539 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57539 MONDO:0700096 No evidence available 0 true NCBIGene:345611 biolink:gene_associated_with_condition MONDO:0012845 infores:ubergraph knowledge_assertion manual_agent HGNC:29597 MONDO:0012845 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0030489 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0030489 NCBIGene:79443 biolink:gene_associated_with_condition MONDO:0012395 infores:clingen NCBIGene:79443 MONDO:0012395 Gene associated with autosomal recessive phenotype 30 NCBIGene:5959 biolink:gene_associated_with_condition MONDO:0100443 infores:clingen HGNC:9940 MONDO:0100443 Definitive 2021-09-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5399fd62-ca69-4665-b3ba-c15ceefbf6d9-2021-09-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0011054 infores:ubergraph knowledge_assertion manual_agent HGNC:11603 MONDO:0011054 NCBIGene:1643 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1643 MONDO:0700096 No evidence available 0 true NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4274 MONDO:0005453 Limited 2024-06-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9be0581c-6ed0-4104-8da8-87b697548212-2024-06-04T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:93183 biolink:gene_associated_with_condition MONDO:0012465 infores:clingen HGNC:18858 MONDO:0012465 Limited 2025-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f014f3-0570-46b6-b03e-89fac0387882-2025-02-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:93627 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:28261 MONDO:0800439 Definitive 2024-02-07T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1df2bd2a-9170-401b-b680-5f8613043b33-2024-02-07T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:51117 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:19693 MONDO:0044970 Definitive 2023-01-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d59cb98-0dd9-4707-8464-876eee053467-2023-01-30T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:57107 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:23041 MONDO:0009723 Moderate 2021-03-11T17:23:36.036Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0928f3-2b7d-4622-bc96-68a4d0078826-2021-03-11T172336.036Z AR Autosomal Recessive 0000007 NCBIGene:4099 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:6783 MONDO:0015150 Definitive 2023-11-20T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27976cb3-605a-4f56-a262-64dfd9793559-2023-11-20T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:7138 biolink:gene_associated_with_condition MONDO:0011539 infores:clingen NCBIGene:7138 MONDO:0011539 Definitive 2020-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f993d88-c2f6-42c8-8c2e-c1bb63e1416a-2020-05-07T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57492 biolink:gene_associated_with_condition MONDO:0007617 infores:clingen NCBIGene:57492 MONDO:0007617 Sufficient evidence for dosage pathogenicity 3 NCBIGene:168507 biolink:gene_associated_with_condition MONDO:0014967 infores:ubergraph knowledge_assertion manual_agent HGNC:18053 MONDO:0014967 NCBIGene:6558 biolink:gene_associated_with_condition MONDO:0033665 infores:ubergraph knowledge_assertion manual_agent HGNC:10911 MONDO:0033665 NCBIGene:8504 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8504 MONDO:0700096 No evidence available 0 true NCBIGene:6045 biolink:gene_associated_with_condition MONDO:0859171 infores:ubergraph knowledge_assertion manual_agent HGNC:10061 MONDO:0859171 NCBIGene:4729 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:4729 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:5311 biolink:gene_associated_with_condition MONDO:0013131 infores:ubergraph knowledge_assertion manual_agent HGNC:9009 MONDO:0013131 NCBIGene:5625 biolink:gene_associated_with_condition MONDO:0009400 infores:ubergraph knowledge_assertion manual_agent HGNC:9453 MONDO:0009400 NCBIGene:254065 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:17342 MONDO:0020119 Definitive 2018-07-17T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8a924e2-e76b-4363-bf38-d95fd53d6141-2018-07-17T220000.000Z XL X-linked 0001417 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0014157 infores:ubergraph knowledge_assertion manual_agent HGNC:9175 MONDO:0014157 NCBIGene:51241 biolink:gene_associated_with_condition MONDO:0859160 infores:ubergraph knowledge_assertion manual_agent HGNC:20213 MONDO:0859160 NCBIGene:117531 biolink:gene_associated_with_condition MONDO:0011708 infores:ubergraph knowledge_assertion manual_agent HGNC:16513 MONDO:0011708 NCBIGene:54829 biolink:gene_associated_with_condition MONDO:0011923 infores:ubergraph knowledge_assertion manual_agent HGNC:14872 MONDO:0011923 NCBIGene:8622 biolink:gene_associated_with_condition MONDO:0013616 infores:ubergraph knowledge_assertion manual_agent HGNC:8794 MONDO:0013616 NCBIGene:8506 biolink:gene_associated_with_condition MONDO:0014569 infores:ubergraph knowledge_assertion manual_agent HGNC:8011 MONDO:0014569 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0014157 infores:clingen HGNC:9175 MONDO:0014157 Definitive 2025-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f040fe17-b319-4230-bb3f-8dde1ca5e6e1-2025-01-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9531 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen NCBIGene:9531 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec07e1-0186-4f45-bd8e-7d8a0f2547a9-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6389 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen HGNC:10680 MONDO:0017366 Definitive 2021-06-17T01:17:16.456Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4833b4b4-071c-4062-9007-8b0f6896a54e-2021-06-17T011716.456Z AD Autosomal Dominant 0000006 NCBIGene:10771 biolink:gene_associated_with_condition MONDO:0014486 infores:ubergraph knowledge_assertion manual_agent HGNC:16966 MONDO:0014486 NCBIGene:1495 biolink:gene_associated_with_condition MONDO:0018502 infores:clingen NCBIGene:1495 MONDO:0018502 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4507 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4507 MONDO:0700096 No evidence available 0 true NCBIGene:916 biolink:gene_associated_with_condition MONDO:0014278 infores:ubergraph knowledge_assertion manual_agent HGNC:1674 MONDO:0014278 NCBIGene:6261 biolink:gene_associated_with_condition MONDO:0100150 infores:clingen HGNC:10483 MONDO:0100150 Definitive 2020-07-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5e4ff9a-94ad-453f-b2de-76deb98fe4ca-2020-07-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3827 biolink:gene_associated_with_condition MONDO:0023660 infores:ubergraph knowledge_assertion manual_agent HGNC:6383 MONDO:0023660 NCBIGene:50619 biolink:gene_associated_with_condition MONDO:0030457 infores:clingen HGNC:2760 MONDO:0030457 Moderate 2025-03-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4df50c05-bbba-49c8-91f1-181d58d499ab-2025-03-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8517 biolink:gene_associated_with_condition MONDO:0100162 infores:clingen HGNC:5961 MONDO:0100162 Definitive 2022-09-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9ee97a-ab3d-4747-b3fe-523578dd90e9-2022-09-15T160000.000Z XL X-linked 0001417 NCBIGene:79572 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:24113 MONDO:0015924 Definitive 2021-11-09T17:39:36.225Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5024e74a-fe6e-4eb2-89df-d07ff18e439c-2021-11-09T173936.225Z SD Semidominant 0032113 NCBIGene:51741 biolink:gene_associated_with_condition MONDO:0013687 infores:ubergraph knowledge_assertion manual_agent HGNC:12799 MONDO:0013687 NCBIGene:8688 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8688 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:2628 biolink:gene_associated_with_condition MONDO:0012996 infores:clingen HGNC:4175 MONDO:0012996 Definitive 2019-03-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d63bfeff-882d-400f-af17-277a702fd09b-2019-03-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79989 biolink:gene_associated_with_condition MONDO:0859191 infores:ubergraph knowledge_assertion manual_agent HGNC:21882 MONDO:0859191 NCBIGene:130497 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:8111 MONDO:0005453 Disputed 2024-04-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1353bd05-2078-40c0-b339-5c786c3997b1-2024-04-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10558 biolink:gene_associated_with_condition MONDO:0008086 infores:ubergraph knowledge_assertion manual_agent HGNC:11277 MONDO:0008086 NCBIGene:2550 biolink:gene_associated_with_condition MONDO:0957779 infores:ubergraph knowledge_assertion manual_agent HGNC:4070 MONDO:0957779 NCBIGene:91137 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:25198 MONDO:0009723 Limited 2020-08-27T16:37:57.565Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e456b6d-7a9b-42d2-ab51-0531f5184b41-2020-08-27T163757.565Z AR Autosomal Recessive 0000007 NCBIGene:10020 biolink:gene_associated_with_condition MONDO:0031447 infores:clingen HGNC:23657 MONDO:0031447 Moderate 2022-05-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_335d18ae-50ef-49a8-abb2-79799833b544-2022-05-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:138050 biolink:gene_associated_with_condition MONDO:1040040 infores:ubergraph knowledge_assertion manual_agent HGNC:26527 MONDO:1040040 NCBIGene:3757 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:6251 MONDO:0000453 Definitive 2020-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b033c3f-04de-4806-a9f3-0b318082b32e-2020-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2720 biolink:gene_associated_with_condition MONDO:0018149 infores:clingen NCBIGene:2720 MONDO:0018149 Definitive 2023-04-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0019c7ef-4e2f-4f32-ab42-decfa0b20c29-2023-04-28T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3021 biolink:gene_associated_with_condition MONDO:0030607 infores:ubergraph knowledge_assertion manual_agent HGNC:4765 MONDO:0030607 NCBIGene:23133 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23133 MONDO:0700096 No evidence available 0 true NCBIGene:79083 biolink:gene_associated_with_condition MONDO:0012220 infores:ubergraph knowledge_assertion manual_agent HGNC:29643 MONDO:0012220 NCBIGene:1258 biolink:gene_associated_with_condition MONDO:0013413 infores:clingen NCBIGene:1258 MONDO:0013413 Gene associated with autosomal recessive phenotype 30 NCBIGene:64121 biolink:gene_associated_with_condition MONDO:0957960 infores:ubergraph knowledge_assertion manual_agent HGNC:19902 MONDO:0957960 NCBIGene:2591 biolink:gene_associated_with_condition MONDO:0100252 infores:clingen NCBIGene:2591 MONDO:0100252 Definitive 2024-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc60daf-72c4-4a3f-9d1c-96bffd8a9bc9-2024-02-06T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5194 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8855 MONDO:0019234 Definitive 2019-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c662669-4eb8-45e3-8540-c394ea40c1b2-2019-10-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5332 biolink:gene_associated_with_condition MONDO:0957544 infores:ubergraph knowledge_assertion manual_agent HGNC:9059 MONDO:0957544 NCBIGene:164045 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:164045 MONDO:0700096 No evidence available 0 true NCBIGene:91442 biolink:gene_associated_with_condition MONDO:0016537 infores:clingen HGNC:28467 MONDO:0016537 Disputed 2024-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_640890b8-ed2f-46bd-bf07-74e59da80cc2-2024-06-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:781 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:1399 MONDO:0000453 Disputed 2020-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_896733cc-c686-4279-affb-e1860fd10ca2-2020-09-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8287 biolink:gene_associated_with_condition MONDO:0010767 infores:ubergraph knowledge_assertion manual_agent HGNC:12633 MONDO:0010767 NCBIGene:925 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:925 MONDO:0700096 No evidence available 0 true NCBIGene:4915 biolink:gene_associated_with_condition MONDO:0013483 infores:ubergraph knowledge_assertion manual_agent HGNC:8032 MONDO:0013483 NCBIGene:79644 biolink:gene_associated_with_condition MONDO:0012885 infores:clingen HGNC:25812 MONDO:0012885 Definitive 2024-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8336b45-245d-4309-8451-e99acb568663-2024-01-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:344658 biolink:gene_associated_with_condition MONDO:0958326 infores:ubergraph knowledge_assertion manual_agent HGNC:25394 MONDO:0958326 NCBIGene:23554 biolink:gene_associated_with_condition MONDO:0700231 infores:clingen HGNC:21641 MONDO:0700231 Definitive 2022-01-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c7915a6-c4eb-47c7-9c51-a81279b6e6a4-2022-01-06T170000.000Z SD Semidominant 0032113 NCBIGene:2554 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:2554 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:3426 biolink:gene_associated_with_condition MONDO:0016244 infores:clingen HGNC:5394 MONDO:0016244 Definitive 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5fcd7c-0da5-4ba3-b0c6-2d40f985c418-2023-06-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5293 biolink:gene_associated_with_condition MONDO:0014222 infores:clingen HGNC:8977 MONDO:0014222 Definitive 2022-04-19T15:05:47.546Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c37954fd-7d7c-4ca9-9cd0-7681c1edf8d3-2022-04-19T150547.546Z AD Autosomal Dominant 0000006 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0009397 infores:ubergraph knowledge_assertion manual_agent HGNC:1514 MONDO:0009397 NCBIGene:4128 biolink:gene_associated_with_condition MONDO:0010379 infores:ubergraph knowledge_assertion manual_agent HGNC:6833 MONDO:0010379 NCBIGene:5244 biolink:gene_associated_with_condition MONDO:0013995 infores:ubergraph knowledge_assertion manual_agent HGNC:45 MONDO:0013995 NCBIGene:10054 biolink:gene_associated_with_condition MONDO:0859262 infores:ubergraph knowledge_assertion manual_agent HGNC:30661 MONDO:0859262 NCBIGene:27031 biolink:gene_associated_with_condition MONDO:0011456 infores:ubergraph knowledge_assertion manual_agent HGNC:7907 MONDO:0011456 NCBIGene:197257 biolink:gene_associated_with_condition MONDO:0009505 infores:ubergraph knowledge_assertion manual_agent HGNC:19708 MONDO:0009505 NCBIGene:84464 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:23845 MONDO:0016419 Refuted 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4acc26ec-2174-4b21-bb02-965ae3539062-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:10762 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:8065 MONDO:0004976 Limited 2024-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ce3418e-c7e5-452b-9db6-661571331822-2024-06-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9531 biolink:gene_associated_with_condition MONDO:0018943 infores:clingen HGNC:939 MONDO:0018943 Definitive 2016-12-18T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5466 AD Autosomal Dominant 0000006 NCBIGene:51501 biolink:gene_associated_with_condition MONDO:0014813 infores:clingen HGNC:26938 MONDO:0014813 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aaeeceab-84bc-471c-b8f2-8286d3781398-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6770 biolink:gene_associated_with_condition MONDO:0008725 infores:ubergraph knowledge_assertion manual_agent HGNC:11359 MONDO:0008725 NCBIGene:2492 biolink:gene_associated_with_condition MONDO:0011972 infores:ubergraph knowledge_assertion manual_agent HGNC:3969 MONDO:0011972 NCBIGene:439 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:752 MONDO:0005021 Limited 2025-05-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_605f9805-5af1-445a-911a-d31ebff15125-2025-05-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23435 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23435 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:50640 biolink:gene_associated_with_condition MONDO:0016825 infores:ubergraph knowledge_assertion manual_agent HGNC:28900 MONDO:0016825 NCBIGene:257 biolink:gene_associated_with_condition MONDO:0007636 infores:clingen HGNC:449 MONDO:0007636 Definitive 2022-10-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b460912-d5fd-4b7b-99da-ccd477fd8139-2022-10-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6314 biolink:gene_associated_with_condition MONDO:0016163 infores:ubergraph knowledge_assertion manual_agent HGNC:10560 MONDO:0016163 NCBIGene:54888 biolink:gene_associated_with_condition MONDO:0012613 infores:ubergraph knowledge_assertion manual_agent HGNC:25994 MONDO:0012613 NCBIGene:30812 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:30812 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:8787 biolink:gene_associated_with_condition MONDO:0958180 infores:ubergraph knowledge_assertion manual_agent HGNC:10004 MONDO:0958180 NCBIGene:27089 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:29594 MONDO:0009723 Limited 2019-10-16T14:46:56.909Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bf205a2-6eb3-40aa-b3dd-54c19ce6e6f7-2019-10-16T144656.909Z AR Autosomal Recessive 0000007 NCBIGene:8481 biolink:gene_associated_with_condition MONDO:0010265 infores:ubergraph knowledge_assertion manual_agent HGNC:2567 MONDO:0010265 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0007223 infores:ubergraph knowledge_assertion manual_agent HGNC:5136 MONDO:0007223 NCBIGene:55655 biolink:gene_associated_with_condition MONDO:0957230 infores:ubergraph knowledge_assertion manual_agent HGNC:22948 MONDO:0957230 NCBIGene:57169 biolink:gene_associated_with_condition MONDO:0030491 infores:ubergraph knowledge_assertion manual_agent HGNC:29271 MONDO:0030491 NCBIGene:51726 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:14889 MONDO:0004691 Definitive 2023-10-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbbe08a1-2f13-445d-9492-d1f070e66c0c-2023-10-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23322 biolink:gene_associated_with_condition MONDO:0012694 infores:ubergraph knowledge_assertion manual_agent HGNC:29168 MONDO:0012694 NCBIGene:4081 biolink:gene_associated_with_condition MONDO:0032774 infores:ubergraph knowledge_assertion manual_agent HGNC:6757 MONDO:0032774 NCBIGene:7401 biolink:gene_associated_with_condition MONDO:0013610 infores:ubergraph knowledge_assertion manual_agent HGNC:12605 MONDO:0013610 NCBIGene:1282 biolink:gene_associated_with_condition MONDO:0800461 infores:ubergraph knowledge_assertion manual_agent HGNC:2202 MONDO:0800461 NCBIGene:29887 biolink:gene_associated_with_condition MONDO:0014040 infores:clingen NCBIGene:29887 MONDO:0014040 Definitive 2024-06-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c6f3ffa-405b-4b64-b29d-b4dc157ef586-2024-06-24T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2334 biolink:gene_associated_with_condition MONDO:0010659 infores:clingen NCBIGene:2334 MONDO:0010659 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2645 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen NCBIGene:2645 MONDO:0015967 Definitive 2020-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7291ae0-3356-4c7b-832a-edae5176739f-2020-05-13T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:64446 biolink:gene_associated_with_condition MONDO:0012906 infores:clingen NCBIGene:64446 MONDO:0012906 Definitive 2022-08-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_225300ab-ad49-4043-875b-a27a54d37b72-2022-08-11T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:11315 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:16369 MONDO:0005180 Definitive 2022-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d79439d2-844b-4ba6-aceb-e6b179eaaa01-2022-06-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0013379 infores:ubergraph knowledge_assertion manual_agent HGNC:1097 MONDO:0013379 NCBIGene:526 biolink:gene_associated_with_condition MONDO:0007420 infores:ubergraph knowledge_assertion manual_agent HGNC:854 MONDO:0007420 NCBIGene:6418 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6418 MONDO:0700096 No evidence available 0 true NCBIGene:7380 biolink:gene_associated_with_condition MONDO:0019719 infores:clingen HGNC:12580 MONDO:0019719 Disputed 2023-01-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_825a0eca-b652-43f4-a258-98cdd32751df-2023-01-09T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9512 biolink:gene_associated_with_condition MONDO:0054785 infores:ubergraph knowledge_assertion manual_agent HGNC:9119 MONDO:0054785 NCBIGene:23291 biolink:gene_associated_with_condition MONDO:0030057 infores:ubergraph knowledge_assertion manual_agent HGNC:13607 MONDO:0030057 NCBIGene:2904 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2904 MONDO:0700096 No evidence available 0 true NCBIGene:84317 biolink:gene_associated_with_condition MONDO:0014789 infores:ubergraph knowledge_assertion manual_agent HGNC:28178 MONDO:0014789 NCBIGene:79728 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79728 MONDO:0700096 No evidence available 0 true NCBIGene:23414 biolink:gene_associated_with_condition MONDO:0005711 infores:clingen NCBIGene:23414 MONDO:0005711 true Little evidence for dosage pathogenicity 1 NCBIGene:22897 biolink:gene_associated_with_condition MONDO:0700344 infores:clingen HGNC:29182 MONDO:0700344 Definitive 2021-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_961b81f6-7ad1-49e2-b675-c035b4d8d35d-2021-10-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5095 biolink:gene_associated_with_condition MONDO:0011628 infores:clingen NCBIGene:5095 MONDO:0011628 Definitive 2018-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32a55e25-8632-4f31-84af-3eaf8098ca18-2018-12-13T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51371 biolink:gene_associated_with_condition MONDO:0054700 infores:ubergraph knowledge_assertion manual_agent HGNC:20330 MONDO:0054700 NCBIGene:6476 biolink:gene_associated_with_condition MONDO:0009114 infores:ubergraph knowledge_assertion manual_agent HGNC:10856 MONDO:0009114 NCBIGene:1854 biolink:gene_associated_with_condition MONDO:0859288 infores:ubergraph knowledge_assertion manual_agent HGNC:3078 MONDO:0859288 NCBIGene:8991 biolink:gene_associated_with_condition MONDO:0029144 infores:ubergraph knowledge_assertion manual_agent HGNC:10719 MONDO:0029144 NCBIGene:54802 biolink:gene_associated_with_condition MONDO:0054742 infores:ubergraph knowledge_assertion manual_agent HGNC:20286 MONDO:0054742 NCBIGene:81833 biolink:gene_associated_with_condition MONDO:0957584 infores:ubergraph knowledge_assertion manual_agent HGNC:14967 MONDO:0957584 NCBIGene:8192 biolink:gene_associated_with_condition MONDO:0013588 infores:ubergraph knowledge_assertion manual_agent HGNC:2084 MONDO:0013588 NCBIGene:57716 biolink:gene_associated_with_condition MONDO:0018995 infores:clingen HGNC:13797 MONDO:0018995 Definitive 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_471d2fcc-f9d4-49d7-92b9-d16f5f751d83-2023-01-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2890 biolink:gene_associated_with_condition MONDO:0030964 infores:ubergraph knowledge_assertion manual_agent HGNC:4571 MONDO:0030964 NCBIGene:138050 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:26527 MONDO:0019118 Definitive 2024-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_272a3322-e047-4b37-9bfc-eea3e65ddb57-2024-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55084 biolink:gene_associated_with_condition MONDO:0013353 infores:clingen NCBIGene:55084 MONDO:0013353 Gene associated with autosomal recessive phenotype 30 NCBIGene:57003 biolink:gene_associated_with_condition MONDO:0032645 infores:ubergraph knowledge_assertion manual_agent HGNC:24856 MONDO:0032645 NCBIGene:11281 biolink:gene_associated_with_condition MONDO:0011112 infores:ubergraph knowledge_assertion manual_agent HGNC:21694 MONDO:0011112 NCBIGene:162417 biolink:gene_associated_with_condition MONDO:0009377 infores:ubergraph knowledge_assertion manual_agent HGNC:17996 MONDO:0009377 NCBIGene:23384 biolink:gene_associated_with_condition MONDO:0010850 infores:ubergraph knowledge_assertion manual_agent HGNC:29022 MONDO:0010850 NCBIGene:593 biolink:gene_associated_with_condition MONDO:0023691 infores:ubergraph knowledge_assertion manual_agent HGNC:986 MONDO:0023691 NCBIGene:63901 biolink:gene_associated_with_condition MONDO:0007478 infores:ubergraph knowledge_assertion manual_agent HGNC:24725 MONDO:0007478 NCBIGene:8292 biolink:gene_associated_with_condition MONDO:0011281 infores:clingen NCBIGene:8292 MONDO:0011281 Gene associated with autosomal recessive phenotype 30 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:10586 MONDO:0100062 Definitive 2022-01-04T21:10:51.949Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4c35c20-6e59-46cf-9347-852b80af8dcc-2022-01-04T211051.949Z AR Autosomal Recessive 0000007 NCBIGene:3339 biolink:gene_associated_with_condition MONDO:0100435 infores:clingen HGNC:5273 MONDO:0100435 Definitive 2022-05-21T03:03:06.062Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a69e83a2-d914-4829-b285-c0ab0e4798d3-2022-05-21T030306.062Z AR Autosomal Recessive 0000007 NCBIGene:23067 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23067 MONDO:0700096 No evidence available 0 true NCBIGene:8815 biolink:gene_associated_with_condition MONDO:0013523 infores:ubergraph knowledge_assertion manual_agent HGNC:17397 MONDO:0013523 NCBIGene:445 biolink:gene_associated_with_condition MONDO:0008988 infores:ubergraph knowledge_assertion manual_agent HGNC:758 MONDO:0008988 NCBIGene:1272 biolink:gene_associated_with_condition MONDO:0012929 infores:clingen NCBIGene:1272 MONDO:0012929 Gene associated with autosomal recessive phenotype 30 NCBIGene:25977 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:24539 MONDO:0100062 Moderate 2023-01-17T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fa4d835-8c26-4b30-9f26-7b6fb64d6a0b-2023-01-17T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:2324 biolink:gene_associated_with_condition MONDO:0032913 infores:ubergraph knowledge_assertion manual_agent HGNC:3767 MONDO:0032913 NCBIGene:843 biolink:gene_associated_with_condition MONDO:0011383 infores:ubergraph knowledge_assertion manual_agent HGNC:1500 MONDO:0011383 NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0013759 infores:ubergraph knowledge_assertion manual_agent HGNC:7105 MONDO:0013759 NCBIGene:1816 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1816 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:118856 biolink:gene_associated_with_condition MONDO:0014762 infores:ubergraph knowledge_assertion manual_agent HGNC:14357 MONDO:0014762 NCBIGene:5244 biolink:gene_associated_with_condition MONDO:0011214 infores:ubergraph knowledge_assertion manual_agent HGNC:45 MONDO:0011214 NCBIGene:57449 biolink:gene_associated_with_condition MONDO:0019056 infores:clingen HGNC:29105 MONDO:0019056 Definitive 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f2f5a6d-3b4f-4f4c-b560-50944b4ab34f-2023-09-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6301 biolink:gene_associated_with_condition MONDO:0060577 infores:clingen HGNC:10537 MONDO:0060577 Limited 2023-07-18T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad14a75e-47ae-44c8-b122-f6ce95439143-2023-07-18T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:57526 biolink:gene_associated_with_condition MONDO:0010246 infores:ubergraph knowledge_assertion manual_agent HGNC:14270 MONDO:0010246 NCBIGene:144165 biolink:gene_associated_with_condition MONDO:0012904 infores:ubergraph knowledge_assertion manual_agent HGNC:17019 MONDO:0012904 NCBIGene:8800 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8852 MONDO:0019234 No Known Disease Relationship 2020-07-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f83cdb0-7fca-4bc5-b896-3201000364f9-2020-07-17T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:6303 biolink:gene_associated_with_condition MONDO:0019725 infores:clingen HGNC:10540 MONDO:0019725 Limited 2024-06-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51dc331c-64d2-4d0d-885a-54f1a4dab232-2024-06-14T190000.000Z XL X-linked 0001417 NCBIGene:10165 biolink:gene_associated_with_condition MONDO:0011601 infores:ubergraph knowledge_assertion manual_agent HGNC:10983 MONDO:0011601 NCBIGene:123263 biolink:gene_associated_with_condition MONDO:0013987 infores:clingen NCBIGene:123263 MONDO:0013987 Gene associated with autosomal recessive phenotype 30 NCBIGene:617 biolink:gene_associated_with_condition MONDO:0009872 infores:ubergraph knowledge_assertion manual_agent HGNC:1020 MONDO:0009872 NCBIGene:554 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:554 MONDO:0700096 No evidence available 0 true NCBIGene:2782 biolink:gene_associated_with_condition MONDO:0100465 infores:clingen NCBIGene:2782 MONDO:0100465 true Little evidence for dosage pathogenicity 1 NCBIGene:1123 biolink:gene_associated_with_condition MONDO:0011444 infores:ubergraph knowledge_assertion manual_agent HGNC:1943 MONDO:0011444 NCBIGene:8878 biolink:gene_associated_with_condition MONDO:0014640 infores:clingen HGNC:11280 MONDO:0014640 Moderate 2022-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dae3327f-6381-44cc-8baa-8fa1fc0d31d5-2022-12-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7840 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7840 MONDO:0700096 No evidence available 0 true NCBIGene:2203 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2203 MONDO:0700096 No evidence available 0 true NCBIGene:1786 biolink:gene_associated_with_condition MONDO:0013584 infores:ubergraph knowledge_assertion manual_agent HGNC:2976 MONDO:0013584 NCBIGene:254394 biolink:gene_associated_with_condition MONDO:0014520 infores:ubergraph knowledge_assertion manual_agent HGNC:21484 MONDO:0014520 NCBIGene:5406 biolink:gene_associated_with_condition MONDO:0013700 infores:ubergraph knowledge_assertion manual_agent HGNC:9155 MONDO:0013700 NCBIGene:55187 biolink:gene_associated_with_condition MONDO:0011811 infores:ubergraph knowledge_assertion manual_agent HGNC:23595 MONDO:0011811 NCBIGene:5101 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5101 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5455 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:5455 MONDO:0100038 Definitive 2024-06-13T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47a5379c-d723-4b1f-aa3c-6b5398451f77-2024-06-13T180000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:79621 biolink:gene_associated_with_condition MONDO:0700257 infores:ubergraph knowledge_assertion manual_agent HGNC:25671 MONDO:0700257 NCBIGene:29094 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:25012 MONDO:0004976 Limited 2023-02-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a2db59f-5293-4e5d-ae34-5a38d8c6ebdf-2023-02-14T170000.000Z UD Undetermined Mode of Inheritance NCBIGene:57534 biolink:gene_associated_with_condition MONDO:0014042 infores:ubergraph knowledge_assertion manual_agent HGNC:21086 MONDO:0014042 NCBIGene:9581 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9581 MONDO:0700096 No evidence available 0 true NCBIGene:25914 biolink:gene_associated_with_condition MONDO:0018764 infores:ubergraph knowledge_assertion manual_agent HGNC:18654 MONDO:0018764 NCBIGene:3674 biolink:gene_associated_with_condition MONDO:0100326 infores:clingen HGNC:6138 MONDO:0100326 Definitive 2019-09-04T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fa894f5-f9e4-4b6d-bdde-eeb7ad9507e2-2019-09-04T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:7276 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7276 MONDO:0700096 No evidence available 0 true NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0011970 infores:ubergraph knowledge_assertion manual_agent HGNC:29203 MONDO:0011970 NCBIGene:4215 biolink:gene_associated_with_condition MONDO:0975952 infores:ubergraph knowledge_assertion manual_agent HGNC:6855 MONDO:0975952 NCBIGene:9325 biolink:gene_associated_with_condition MONDO:0014806 infores:clingen NCBIGene:9325 MONDO:0014806 Gene associated with autosomal recessive phenotype 30 NCBIGene:9948 biolink:gene_associated_with_condition MONDO:0007883 infores:ubergraph knowledge_assertion manual_agent HGNC:12754 MONDO:0007883 NCBIGene:57477 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57477 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3040 biolink:gene_associated_with_condition MONDO:0020835 infores:clingen HGNC:4824 MONDO:0020835 Limited 2024-03-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12bfc99c-f8d8-4045-98ba-17254b56decc-2024-03-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9569 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9569 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5593 biolink:gene_associated_with_condition MONDO:0030487 infores:ubergraph knowledge_assertion manual_agent HGNC:9416 MONDO:0030487 NCBIGene:3398 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:5361 MONDO:0005453 Disputed 2023-11-27T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e68cc0e-bb24-4363-a94e-858cf4c43de5-2023-11-27T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:735 biolink:gene_associated_with_condition MONDO:0013445 infores:ubergraph knowledge_assertion manual_agent HGNC:1358 MONDO:0013445 NCBIGene:64116 biolink:gene_associated_with_condition MONDO:0014746 infores:ubergraph knowledge_assertion manual_agent HGNC:20862 MONDO:0014746 NCBIGene:5318 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5318 MONDO:0700096 No evidence available 0 true NCBIGene:348654 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:26881 MONDO:0016419 Refuted 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8a2aec0-413b-41f2-ba51-e8a71e52cf1a-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:79797 biolink:gene_associated_with_condition MONDO:0014653 infores:ubergraph knowledge_assertion manual_agent HGNC:20041 MONDO:0014653 NCBIGene:285590 biolink:gene_associated_with_condition MONDO:0009579 infores:clingen HGNC:29242 MONDO:0009579 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08691232-1885-49df-a3fb-b0ed8ef88a56-2023-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84100 biolink:gene_associated_with_condition MONDO:0010832 infores:clingen NCBIGene:84100 MONDO:0010832 Gene associated with autosomal recessive phenotype 30 NCBIGene:3848 biolink:gene_associated_with_condition MONDO:0700249 infores:ubergraph knowledge_assertion manual_agent HGNC:6412 MONDO:0700249 NCBIGene:54456 biolink:gene_associated_with_condition MONDO:0030818 infores:ubergraph knowledge_assertion manual_agent HGNC:7201 MONDO:0030818 NCBIGene:55148 biolink:gene_associated_with_condition MONDO:0030963 infores:ubergraph knowledge_assertion manual_agent HGNC:20344 MONDO:0030963 NCBIGene:10516 biolink:gene_associated_with_condition MONDO:0009052 infores:ubergraph knowledge_assertion manual_agent HGNC:3602 MONDO:0009052 NCBIGene:11117 biolink:gene_associated_with_condition MONDO:0971179 infores:clingen HGNC:19880 MONDO:0971179 Definitive 2025-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be7af692-0751-4da3-a24a-b28cf4675b4d-2025-06-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4343 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4343 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:56623 biolink:gene_associated_with_condition MONDO:0008944 infores:ubergraph knowledge_assertion manual_agent HGNC:21474 MONDO:0008944 NCBIGene:87 biolink:gene_associated_with_condition MONDO:0014078 infores:clingen HGNC:163 MONDO:0014078 Definitive 2020-11-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_215f3113-cfb6-44cc-a68b-1eb6539c9fa0-2020-11-25T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:54931 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:26022 MONDO:0044970 Moderate 2022-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5406ef5-ce74-4762-9709-8791775bccac-2022-09-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79955 biolink:gene_associated_with_condition MONDO:0019588 infores:clingen HGNC:26257 MONDO:0019588 Definitive 2017-04-26T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8406 AR Autosomal Recessive 0000007 NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0007399 infores:clingen HGNC:12428 MONDO:0007399 Moderate 2021-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bda425f8-b760-4484-9336-b3e572d402ab-2021-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1749 biolink:gene_associated_with_condition MONDO:0009080 infores:ubergraph knowledge_assertion manual_agent HGNC:2918 MONDO:0009080 NCBIGene:844 biolink:gene_associated_with_condition MONDO:0014546 infores:ubergraph knowledge_assertion manual_agent HGNC:1512 MONDO:0014546 NCBIGene:7143 biolink:gene_associated_with_condition MONDO:0859212 infores:ubergraph knowledge_assertion manual_agent HGNC:11953 MONDO:0859212 NCBIGene:79718 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79718 MONDO:0700096 Little evidence for dosage pathogenicity 1 true NCBIGene:10352 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:12730 MONDO:0044970 Definitive 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fae4b08-08dc-42da-86a0-2d63ad202ef0-2022-06-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:166379 biolink:gene_associated_with_condition MONDO:1040045 infores:clingen HGNC:26648 MONDO:1040045 Definitive 2024-01-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3aefcbae-bf06-45da-b3be-a550e997257a-2024-01-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:403 biolink:gene_associated_with_condition MONDO:0032570 infores:ubergraph knowledge_assertion manual_agent HGNC:694 MONDO:0032570 NCBIGene:5518 biolink:gene_associated_with_condition MONDO:0014605 infores:ubergraph knowledge_assertion manual_agent HGNC:9302 MONDO:0014605 NCBIGene:65055 biolink:gene_associated_with_condition MONDO:0012453 infores:ubergraph knowledge_assertion manual_agent HGNC:25786 MONDO:0012453 NCBIGene:54187 biolink:gene_associated_with_condition MONDO:0012495 infores:ubergraph knowledge_assertion manual_agent HGNC:19237 MONDO:0012495 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0030088 infores:ubergraph knowledge_assertion manual_agent HGNC:59 MONDO:0030088 NCBIGene:84894 biolink:gene_associated_with_condition MONDO:0020846 infores:ubergraph knowledge_assertion manual_agent HGNC:21205 MONDO:0020846 NCBIGene:3664 biolink:gene_associated_with_condition MONDO:0012141 infores:ubergraph knowledge_assertion manual_agent HGNC:6121 MONDO:0012141 NCBIGene:57498 biolink:gene_associated_with_condition MONDO:0015007 infores:clingen HGNC:29508 MONDO:0015007 Moderate 2024-10-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22271df6-f033-4ecc-9aa7-2b5cdd8f060e-2024-10-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9581 biolink:gene_associated_with_condition MONDO:0044299 infores:clingen NCBIGene:9581 MONDO:0044299 Gene associated with autosomal recessive phenotype 30 NCBIGene:4565 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7488 MONDO:0044970 Definitive 2023-06-05T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbdedc92-8d9d-4912-a4d1-69a91ea65ef0-2023-06-05T040000.000Z MT Mitochondrial 0001427 NCBIGene:403 biolink:gene_associated_with_condition MONDO:0032577 infores:ubergraph knowledge_assertion manual_agent HGNC:694 MONDO:0032577 NCBIGene:427 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:427 MONDO:0700096 No evidence available 0 true NCBIGene:50814 biolink:gene_associated_with_condition MONDO:0010621 infores:ubergraph knowledge_assertion manual_agent HGNC:13398 MONDO:0010621 NCBIGene:4001 biolink:gene_associated_with_condition MONDO:0008215 infores:clingen NCBIGene:4001 MONDO:0008215 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51778 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:1330 MONDO:0005045 Disputed 2022-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74395ba-66ee-43c6-8d3c-c353bd8e5e82-2022-10-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54101 biolink:gene_associated_with_condition MONDO:0009901 infores:clingen NCBIGene:54101 MONDO:0009901 Gene associated with autosomal recessive phenotype 30 NCBIGene:54809 biolink:gene_associated_with_condition MONDO:0012502 infores:ubergraph knowledge_assertion manual_agent HGNC:1348 MONDO:0012502 NCBIGene:3490 biolink:gene_associated_with_condition MONDO:0013640 infores:ubergraph knowledge_assertion manual_agent HGNC:5476 MONDO:0013640 NCBIGene:5528 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5528 MONDO:0700096 No evidence available 0 true NCBIGene:6336 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:10582 MONDO:0015263 Disputed 2025-09-10T02:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_346bdecd-dab6-4b17-940d-0e5797a82713-2025-09-10T020000.000Z AD Autosomal Dominant 0000006 NCBIGene:8029 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8029 MONDO:0700096 No evidence available 0 true NCBIGene:10000 biolink:gene_associated_with_condition MONDO:0001149 infores:clingen NCBIGene:10000 MONDO:0001149 Limited 2021-10-26T15:00:30.155Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e3b524c-5d27-43d6-a0db-4f8f7cf1f872-2021-10-26T150030.155Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:10939 biolink:gene_associated_with_condition MONDO:0033549 infores:clingen HGNC:315 MONDO:0033549 Definitive 2024-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837efbf5-6fac-4b1c-9f72-59527b5dd6fd-2024-05-16T160000.000Z SD Semidominant 0032113 NCBIGene:6329 biolink:gene_associated_with_condition MONDO:0100121 infores:clingen HGNC:10591 MONDO:0100121 Definitive 2021-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f71b22d2-1ee8-46f6-9488-a86588edd7d3-2021-05-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23193 biolink:gene_associated_with_condition MONDO:0010916 infores:clingen HGNC:4138 MONDO:0010916 Definitive 2020-09-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6392961-a64a-4818-903a-0bf88b32e736-2020-09-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:90 biolink:gene_associated_with_condition MONDO:0007606 infores:ubergraph knowledge_assertion manual_agent HGNC:171 MONDO:0007606 NCBIGene:6263 biolink:gene_associated_with_condition MONDO:0957215 infores:ubergraph knowledge_assertion manual_agent HGNC:10485 MONDO:0957215 NCBIGene:3714 biolink:gene_associated_with_condition MONDO:0030456 infores:ubergraph knowledge_assertion manual_agent HGNC:6189 MONDO:0030456 NCBIGene:3055 biolink:gene_associated_with_condition MONDO:0957204 infores:ubergraph knowledge_assertion manual_agent HGNC:4840 MONDO:0957204 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0011431 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0011431 NCBIGene:1746 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1746 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:55750 biolink:gene_associated_with_condition MONDO:0008922 infores:ubergraph knowledge_assertion manual_agent HGNC:21869 MONDO:0008922 NCBIGene:6635 biolink:gene_associated_with_condition MONDO:0014027 infores:ubergraph knowledge_assertion manual_agent HGNC:11161 MONDO:0014027 NCBIGene:9179 biolink:gene_associated_with_condition MONDO:0013048 infores:ubergraph knowledge_assertion manual_agent HGNC:574 MONDO:0013048 NCBIGene:5430 biolink:gene_associated_with_condition MONDO:0032829 infores:clingen HGNC:9187 MONDO:0032829 Definitive 2024-03-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45cab675-1ca5-4c25-97a9-bfeeeb1e112a-2024-03-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:116228 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen NCBIGene:116228 MONDO:0044970 Definitive 2022-02-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2391b81d-cfd2-4862-b71b-0418794539c3-2022-02-17T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57167 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57167 MONDO:0700096 No evidence available 0 true NCBIGene:10999 biolink:gene_associated_with_condition MONDO:0012089 infores:ubergraph knowledge_assertion manual_agent HGNC:10998 MONDO:0012089 NCBIGene:10535 biolink:gene_associated_with_condition MONDO:0700259 infores:clingen HGNC:18518 MONDO:0700259 Definitive 2024-08-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dca1f8e4-e678-4c72-9698-6e56381cfa7b-2024-08-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:11078 biolink:gene_associated_with_condition MONDO:0012355 infores:ubergraph knowledge_assertion manual_agent HGNC:17009 MONDO:0012355 NCBIGene:6197 biolink:gene_associated_with_condition MONDO:0010561 infores:ubergraph knowledge_assertion manual_agent HGNC:10432 MONDO:0010561 NCBIGene:284086 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:13387 MONDO:0004691 Strong 2024-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32e19522-798c-4c32-a1f7-0cc42660b510-2024-01-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:284184 biolink:gene_associated_with_condition MONDO:0032910 infores:ubergraph knowledge_assertion manual_agent HGNC:33551 MONDO:0032910 NCBIGene:5818 biolink:gene_associated_with_condition MONDO:0009151 infores:clingen HGNC:9706 MONDO:0009151 Definitive 2024-06-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1264fce-e800-4f7d-8395-543d2e266d02-2024-06-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6834 biolink:gene_associated_with_condition MONDO:0014733 infores:ubergraph knowledge_assertion manual_agent HGNC:11474 MONDO:0014733 NCBIGene:5813 biolink:gene_associated_with_condition MONDO:0014512 infores:ubergraph knowledge_assertion manual_agent HGNC:9701 MONDO:0014512 NCBIGene:3920 biolink:gene_associated_with_condition MONDO:0010281 infores:clingen NCBIGene:3920 MONDO:0010281 Definitive 2017-10-11T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f0d4050-f510-438d-a477-0a12669945d8-2017-10-11T040000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79133 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:15899 MONDO:0044970 Definitive 2024-01-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90482ccc-5a6c-40d1-a7ea-d8a78971ac44-2024-01-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1285 biolink:gene_associated_with_condition MONDO:0018965 infores:clingen HGNC:2204 MONDO:0018965 Definitive 2021-07-26T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1ed7d3b-4366-4f4a-98f2-80e431e2d8da-2021-07-26T023000.000Z SD Semidominant 0032113 NCBIGene:28962 biolink:gene_associated_with_condition MONDO:0009817 infores:clingen NCBIGene:28962 MONDO:0009817 Definitive 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25959d42-dae2-47e8-a14c-4fcbd7540491-2024-06-10T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23019 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23019 MONDO:0700096 No evidence available 0 true NCBIGene:7132 biolink:gene_associated_with_condition MONDO:0007727 infores:clingen HGNC:11916 MONDO:0007727 Definitive 2025-04-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66b44bc7-c07a-416b-99c0-9806133b9b42-2025-04-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4212 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4212 MONDO:0700096 No evidence available 0 true NCBIGene:5971 biolink:gene_associated_with_condition MONDO:0054696 infores:clingen HGNC:9956 MONDO:0054696 Limited 2023-03-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb3415ab-4fa5-4f53-8ae4-7b4c620a3391-2023-03-30T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84892 biolink:gene_associated_with_condition MONDO:0700069 infores:ubergraph knowledge_assertion manual_agent HGNC:25902 MONDO:0700069 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3930 MONDO:0700096 No evidence available 0 true NCBIGene:9401 biolink:gene_associated_with_condition MONDO:0016369 infores:ubergraph knowledge_assertion manual_agent HGNC:9949 MONDO:0016369 NCBIGene:6915 biolink:gene_associated_with_condition MONDO:0800447 infores:ubergraph knowledge_assertion manual_agent HGNC:11608 MONDO:0800447 NCBIGene:163183 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:163183 MONDO:0700096 No evidence available 0 true NCBIGene:5306 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5306 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23509 biolink:gene_associated_with_condition MONDO:0014130 infores:clingen HGNC:14988 MONDO:0014130 Definitive 2025-10-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fe4c68f-a145-466e-bf25-bf7521b91279-2025-10-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3796 biolink:gene_associated_with_condition MONDO:0014170 infores:ubergraph knowledge_assertion manual_agent HGNC:6318 MONDO:0014170 NCBIGene:579 biolink:gene_associated_with_condition MONDO:0013228 infores:ubergraph knowledge_assertion manual_agent HGNC:951 MONDO:0013228 NCBIGene:55135 biolink:gene_associated_with_condition MONDO:0015780 infores:clingen HGNC:25522 MONDO:0015780 Moderate 2017-01-25T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3207 AR Autosomal Recessive 0000007 NCBIGene:83737 biolink:gene_associated_with_condition MONDO:0013245 infores:ubergraph knowledge_assertion manual_agent HGNC:13890 MONDO:0013245 NCBIGene:168667 biolink:gene_associated_with_condition MONDO:0011946 infores:clingen NCBIGene:168667 MONDO:0011946 Gene associated with autosomal recessive phenotype 30 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0008817 infores:ubergraph knowledge_assertion manual_agent HGNC:3356 MONDO:0008817 NCBIGene:9699 biolink:gene_associated_with_condition MONDO:0033543 infores:ubergraph knowledge_assertion manual_agent HGNC:17283 MONDO:0033543 NCBIGene:84295 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84295 MONDO:0700096 No evidence available 0 true NCBIGene:27077 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27077 MONDO:0700096 No evidence available 0 true NCBIGene:4128 biolink:gene_associated_with_condition MONDO:0010379 infores:clingen NCBIGene:4128 MONDO:0010379 Definitive 2020-04-14T20:39:50.820Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20ffc014-ef31-4693-91c4-424bbe1e48dd-2020-04-14T203950.820Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:5243 biolink:gene_associated_with_condition MONDO:0012831 infores:ubergraph knowledge_assertion manual_agent HGNC:40 MONDO:0012831 NCBIGene:931 biolink:gene_associated_with_condition MONDO:0013285 infores:ubergraph knowledge_assertion manual_agent HGNC:7315 MONDO:0013285 NCBIGene:6870 biolink:gene_associated_with_condition MONDO:0013913 infores:ubergraph knowledge_assertion manual_agent HGNC:11528 MONDO:0013913 NCBIGene:25942 biolink:gene_associated_with_condition MONDO:0044699 infores:clingen HGNC:19353 MONDO:0044699 Definitive 2022-01-19T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c6bb2ed-0912-4d60-9faa-39be27ecf4c7-2022-01-19T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:3170 biolink:gene_associated_with_condition MONDO:0013099 infores:clingen HGNC:5022 MONDO:0013099 Moderate 2025-10-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a995738-1ea3-454b-b92f-251d4b21d530-2025-10-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3291 biolink:gene_associated_with_condition MONDO:0009025 infores:clingen HGNC:5209 MONDO:0009025 Definitive 2024-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8170a26-6ee5-4acc-bdb2-388097413f3a-2024-05-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84188 biolink:gene_associated_with_condition MONDO:0036212 infores:ubergraph knowledge_assertion manual_agent HGNC:26222 MONDO:0036212 NCBIGene:2677 biolink:gene_associated_with_condition MONDO:0010187 infores:clingen HGNC:4247 MONDO:0010187 Definitive 2021-02-24T17:52:00.635Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87ceae1d-b329-4c29-b6f2-8a94a127204e-2021-02-24T175200.635Z AR Autosomal Recessive 0000007 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0013262 infores:ubergraph knowledge_assertion manual_agent HGNC:7577 MONDO:0013262 NCBIGene:23362 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23362 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6768 biolink:gene_associated_with_condition MONDO:0011218 infores:ubergraph knowledge_assertion manual_agent HGNC:11344 MONDO:0011218 NCBIGene:54872 biolink:gene_associated_with_condition MONDO:0014832 infores:ubergraph knowledge_assertion manual_agent HGNC:25985 MONDO:0014832 NCBIGene:54463 biolink:gene_associated_with_condition MONDO:0013142 infores:ubergraph knowledge_assertion manual_agent HGNC:25964 MONDO:0013142 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0100050 infores:ubergraph knowledge_assertion manual_agent HGNC:14674 MONDO:0100050 NCBIGene:8471 biolink:gene_associated_with_condition MONDO:0026732 infores:ubergraph knowledge_assertion manual_agent HGNC:6128 MONDO:0026732 NCBIGene:348654 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:348654 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:4072 biolink:gene_associated_with_condition MONDO:0013184 infores:ubergraph knowledge_assertion manual_agent HGNC:11529 MONDO:0013184 NCBIGene:5568 biolink:gene_associated_with_condition MONDO:0014518 infores:ubergraph knowledge_assertion manual_agent HGNC:9382 MONDO:0014518 NCBIGene:4867 biolink:gene_associated_with_condition MONDO:0015369 infores:clingen NCBIGene:4867 MONDO:0015369 Gene associated with autosomal recessive phenotype 30 NCBIGene:23001 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23001 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5080 MONDO:0700096 Little evidence for dosage pathogenicity 1 true NCBIGene:84662 biolink:gene_associated_with_condition MONDO:0012680 infores:ubergraph knowledge_assertion manual_agent HGNC:29450 MONDO:0012680 NCBIGene:1184 biolink:gene_associated_with_condition MONDO:0010225 infores:clingen NCBIGene:1184 MONDO:0010225 Definitive 2022-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c5b5abc-4f1f-4491-b5db-5208906f0f1b-2022-07-21T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8926 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8926 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:7518 biolink:gene_associated_with_condition MONDO:0014686 infores:ubergraph knowledge_assertion manual_agent HGNC:12831 MONDO:0014686 NCBIGene:84816 biolink:gene_associated_with_condition MONDO:0020737 infores:ubergraph knowledge_assertion manual_agent HGNC:18647 MONDO:0020737 NCBIGene:26146 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:17861 MONDO:0005308 Definitive 2024-01-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5e570ae-a273-44fc-81a4-28464f3f399f-2024-01-29T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:126792 biolink:gene_associated_with_condition MONDO:0100586 infores:ubergraph knowledge_assertion manual_agent HGNC:17978 MONDO:0100586 NCBIGene:546 biolink:gene_associated_with_condition MONDO:0010519 infores:ubergraph knowledge_assertion manual_agent HGNC:886 MONDO:0010519 NCBIGene:8195 biolink:gene_associated_with_condition MONDO:1040050 infores:ubergraph knowledge_assertion manual_agent HGNC:7108 MONDO:1040050 NCBIGene:4942 biolink:gene_associated_with_condition MONDO:0009796 infores:ubergraph knowledge_assertion manual_agent HGNC:8091 MONDO:0009796 NCBIGene:7187 biolink:gene_associated_with_condition MONDO:0013920 infores:ubergraph knowledge_assertion manual_agent HGNC:12033 MONDO:0013920 NCBIGene:8382 biolink:gene_associated_with_condition MONDO:0031054 infores:ubergraph knowledge_assertion manual_agent HGNC:7853 MONDO:0031054 NCBIGene:5257 biolink:gene_associated_with_condition MONDO:0009868 infores:ubergraph knowledge_assertion manual_agent HGNC:8927 MONDO:0009868 NCBIGene:282996 biolink:gene_associated_with_condition MONDO:0013168 infores:ubergraph knowledge_assertion manual_agent HGNC:27424 MONDO:0013168 NCBIGene:59345 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:20731 MONDO:0015626 Moderate 2020-04-14T13:20:10.930Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8cecdd7-06d8-4697-8cd9-32900c366371-2020-04-14T132010.930Z AD Autosomal Dominant 0000006 NCBIGene:27245 biolink:gene_associated_with_condition MONDO:0014358 infores:clingen NCBIGene:27245 MONDO:0014358 Definitive 2021-11-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59a6c010-95ac-4813-9cf4-5ff60fa5c7e9-2021-11-16T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1292 biolink:gene_associated_with_condition MONDO:0009714 infores:ubergraph knowledge_assertion manual_agent HGNC:2212 MONDO:0009714 NCBIGene:20 biolink:gene_associated_with_condition MONDO:0032930 infores:ubergraph knowledge_assertion manual_agent HGNC:32 MONDO:0032930 NCBIGene:282809 biolink:gene_associated_with_condition MONDO:0014427 infores:ubergraph knowledge_assertion manual_agent HGNC:30836 MONDO:0014427 NCBIGene:3643 biolink:gene_associated_with_condition MONDO:0012520 infores:ubergraph knowledge_assertion manual_agent HGNC:6091 MONDO:0012520 NCBIGene:2528 biolink:gene_associated_with_condition MONDO:0013462 infores:ubergraph knowledge_assertion manual_agent HGNC:4017 MONDO:0013462 NCBIGene:84068 biolink:gene_associated_with_condition MONDO:0032703 infores:ubergraph knowledge_assertion manual_agent HGNC:23088 MONDO:0032703 NCBIGene:5699 biolink:gene_associated_with_condition MONDO:0971001 infores:ubergraph knowledge_assertion manual_agent HGNC:9538 MONDO:0971001 NCBIGene:5311 biolink:gene_associated_with_condition MONDO:0013131 infores:clingen NCBIGene:5311 MONDO:0013131 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1804 biolink:gene_associated_with_condition MONDO:0014580 infores:clingen NCBIGene:1804 MONDO:0014580 true Little evidence for dosage pathogenicity 1 NCBIGene:5146 biolink:gene_associated_with_condition MONDO:0013129 infores:clingen NCBIGene:5146 MONDO:0013129 Gene associated with autosomal recessive phenotype 30 NCBIGene:1828 biolink:gene_associated_with_condition MONDO:0007859 infores:ubergraph knowledge_assertion manual_agent HGNC:3048 MONDO:0007859 NCBIGene:8647 biolink:gene_associated_with_condition MONDO:0011156 infores:clingen NCBIGene:8647 MONDO:0011156 Gene associated with autosomal recessive phenotype 30 NCBIGene:4826 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4826 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1029 biolink:gene_associated_with_condition MONDO:0007967 infores:ubergraph knowledge_assertion manual_agent HGNC:1787 MONDO:0007967 NCBIGene:84905 biolink:gene_associated_with_condition MONDO:0032654 infores:ubergraph knowledge_assertion manual_agent HGNC:15992 MONDO:0032654 NCBIGene:23395 biolink:gene_associated_with_condition MONDO:0017312 infores:clingen HGNC:17095 MONDO:0017312 Definitive 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afe11e7-7c53-46e2-b48e-37ee2bc144ce-2023-06-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:81624 biolink:gene_associated_with_condition MONDO:0021944 infores:clingen HGNC:15480 MONDO:0021944 Limited 2020-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc54aaf6-8e1b-4c98-bcbe-e1f337f6eadc-2020-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4363 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:51 MONDO:0019587 Limited 2025-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdf6b5bc-f8f6-46f5-abc1-c336cd9121be-2025-10-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5216 biolink:gene_associated_with_condition MONDO:0013891 infores:ubergraph knowledge_assertion manual_agent HGNC:8881 MONDO:0013891 NCBIGene:7045 biolink:gene_associated_with_condition MONDO:0000764 infores:ubergraph knowledge_assertion manual_agent HGNC:11771 MONDO:0000764 NCBIGene:28982 biolink:gene_associated_with_condition MONDO:0976126 infores:ubergraph knowledge_assertion manual_agent HGNC:24682 MONDO:0976126 NCBIGene:785 biolink:gene_associated_with_condition MONDO:0013464 infores:ubergraph knowledge_assertion manual_agent HGNC:1404 MONDO:0013464 NCBIGene:5744 biolink:gene_associated_with_condition MONDO:0013244 infores:clingen NCBIGene:5744 MONDO:0013244 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6716 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6716 MONDO:0700096 No evidence available 0 true NCBIGene:9775 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9775 MONDO:0700096 No evidence available 0 true NCBIGene:80144 biolink:gene_associated_with_condition MONDO:0009046 infores:clingen HGNC:19185 MONDO:0009046 Definitive 2022-10-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1303854d-356f-4295-85c3-ec2c6cbf6e4b-2022-10-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5281 biolink:gene_associated_with_condition MONDO:0859161 infores:clingen HGNC:8962 MONDO:0859161 Limited 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fee2ba7f-6e59-46a9-97b6-0d13c7513292-2024-11-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:139818 biolink:gene_associated_with_condition MONDO:0957494 infores:ubergraph knowledge_assertion manual_agent HGNC:23483 MONDO:0957494 NCBIGene:2161 biolink:gene_associated_with_condition MONDO:0009315 infores:clingen HGNC:3530 MONDO:0009315 Definitive 2020-01-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50bbe8d0-4feb-43c7-8573-9d7f85c82e54-2020-01-22T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5087 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5087 MONDO:0700096 No evidence available 0 true Sufficient evidence for dosage pathogenicity 3 NCBIGene:27339 biolink:gene_associated_with_condition MONDO:1040005 infores:ubergraph knowledge_assertion manual_agent HGNC:17896 MONDO:1040005 NCBIGene:81 biolink:gene_associated_with_condition MONDO:0011303 infores:ubergraph knowledge_assertion manual_agent HGNC:166 MONDO:0011303 NCBIGene:8517 biolink:gene_associated_with_condition MONDO:0010631 infores:clingen NCBIGene:8517 MONDO:0010631 Definitive 2022-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_092ed3e1-8a02-4c71-8134-24c4dc8d3a69-2022-06-23T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:84059 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:17416 MONDO:0019497 Disputed 2019-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f3dc96a-8fd3-4d30-98fd-1b1cf264e818-2019-03-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6606 biolink:gene_associated_with_condition MONDO:0009672 infores:ubergraph knowledge_assertion manual_agent HGNC:11117 MONDO:0009672 NCBIGene:6335 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:10597 MONDO:0005027 Refuted 2021-03-09T16:36:49.218Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72a91ef6-e052-44a4-b14e-6a5ba93393ff-2021-03-09T163649.218Z AD Autosomal Dominant 0000006 NCBIGene:2735 biolink:gene_associated_with_condition MONDO:0008269 infores:ubergraph knowledge_assertion manual_agent HGNC:4317 MONDO:0008269 NCBIGene:123263 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:29666 MONDO:0009723 Definitive 2020-03-19T19:45:17.723Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e7a00ee-ef09-443f-9d66-03128e1fb225-2020-03-19T194517.723Z AR Autosomal Recessive 0000007 NCBIGene:132 biolink:gene_associated_with_condition MONDO:0100255 infores:ubergraph knowledge_assertion manual_agent HGNC:257 MONDO:0100255 NCBIGene:10660 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10660 MONDO:0700096 true No evidence available 0 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2778 MONDO:0700096 No evidence available 0 true NCBIGene:29880 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:20266 MONDO:0004691 Moderate 2023-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1883b1e7-0fb2-4ad5-8ed3-515bf65dc11e-2023-03-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:189 biolink:gene_associated_with_condition MONDO:0100278 infores:clingen HGNC:341 MONDO:0100278 Definitive 2020-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8460f17d-4d94-4a0c-ac46-41c86ce32e83-2020-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7305 biolink:gene_associated_with_condition MONDO:0020749 infores:ubergraph knowledge_assertion manual_agent HGNC:12449 MONDO:0020749 NCBIGene:3887 biolink:gene_associated_with_condition MONDO:0700341 infores:ubergraph knowledge_assertion manual_agent HGNC:6458 MONDO:0700341 NCBIGene:84811 biolink:gene_associated_with_condition MONDO:0700300 infores:ubergraph knowledge_assertion manual_agent HGNC:28199 MONDO:0700300 NCBIGene:246213 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen NCBIGene:246213 MONDO:0019587 true Little evidence for dosage pathogenicity 1 NCBIGene:144535 biolink:gene_associated_with_condition MONDO:0100607 infores:ubergraph knowledge_assertion manual_agent HGNC:26456 MONDO:0100607 NCBIGene:220 biolink:gene_associated_with_condition MONDO:0014050 infores:ubergraph knowledge_assertion manual_agent HGNC:409 MONDO:0014050 NCBIGene:6341 biolink:gene_associated_with_condition MONDO:0033636 infores:ubergraph knowledge_assertion manual_agent HGNC:10603 MONDO:0033636 NCBIGene:875 biolink:gene_associated_with_condition MONDO:0009352 infores:ubergraph knowledge_assertion manual_agent HGNC:1550 MONDO:0009352 NCBIGene:5378 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:9121 MONDO:0005835 Refuted 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7aa5e58f-5778-4b62-9279-a3da77ca79c0-2023-12-20T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:2138 biolink:gene_associated_with_condition MONDO:0007236 infores:ubergraph knowledge_assertion manual_agent HGNC:3519 MONDO:0007236 NCBIGene:3773 biolink:gene_associated_with_condition MONDO:0009423 infores:clingen HGNC:6262 MONDO:0009423 Definitive 2025-10-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7b17b53-89bc-4f43-ab6f-c1808a4e4cbc-2025-10-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5813 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:5813 MONDO:0100038 Definitive 2018-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6819633c-e488-4856-8dec-3981cd14db9b-2018-12-18T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3832 biolink:gene_associated_with_condition MONDO:0007918 infores:ubergraph knowledge_assertion manual_agent HGNC:6388 MONDO:0007918 NCBIGene:144406 biolink:gene_associated_with_condition MONDO:0029147 infores:ubergraph knowledge_assertion manual_agent HGNC:28506 MONDO:0029147 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0008682 infores:ubergraph knowledge_assertion manual_agent HGNC:12796 MONDO:0008682 NCBIGene:1501 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:1501 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0018875 infores:clingen NCBIGene:7157 MONDO:0018875 Definitive 2024-03-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78494aba-bb52-4b33-bf1d-ebbb5374df4b-2024-03-22T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6786 biolink:gene_associated_with_condition MONDO:0013008 infores:ubergraph knowledge_assertion manual_agent HGNC:11386 MONDO:0013008 NCBIGene:815 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:815 MONDO:0700096 No evidence available 0 true NCBIGene:5274 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:8943 MONDO:0020074 Definitive 2022-06-05T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b31db78-6595-440d-a3f1-b3b5ca361611-2022-06-05T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:23314 biolink:gene_associated_with_condition MONDO:0100147 infores:clingen NCBIGene:23314 MONDO:0100147 Definitive 2020-09-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44d14081-fa32-4159-9049-35f510d2351a-2020-09-15T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3054 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen HGNC:4839 MONDO:0100284 Definitive 2021-03-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_023defeb-36f4-4e54-ba8f-e2c9537e933c-2021-03-17T160000.000Z XL X-linked 0001417 NCBIGene:778 biolink:gene_associated_with_condition MONDO:0700243 infores:ubergraph knowledge_assertion manual_agent HGNC:1393 MONDO:0700243 NCBIGene:7140 biolink:gene_associated_with_condition MONDO:0018958 infores:clingen HGNC:11950 MONDO:0018958 Limited 2025-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9617fa6c-fcb4-460a-be4b-2e437267f608-2025-02-24T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55681 biolink:gene_associated_with_condition MONDO:0032903 infores:ubergraph knowledge_assertion manual_agent HGNC:19286 MONDO:0032903 NCBIGene:116442 biolink:gene_associated_with_condition MONDO:0010709 infores:ubergraph knowledge_assertion manual_agent HGNC:16499 MONDO:0010709 NCBIGene:120 biolink:gene_associated_with_condition MONDO:0100516 infores:clingen HGNC:245 MONDO:0100516 Moderate 2022-08-15T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a858435-3e50-406f-8ec3-9f4e40b1c392-2022-08-15T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:7276 biolink:gene_associated_with_condition MONDO:0007785 infores:ubergraph knowledge_assertion manual_agent HGNC:12405 MONDO:0007785 NCBIGene:79029 biolink:gene_associated_with_condition MONDO:0030480 infores:ubergraph knowledge_assertion manual_agent HGNC:28762 MONDO:0030480 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:9644 MONDO:0015280 Disputed 2018-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1a2133e-4ce8-45b7-87da-1c52990d3890-2018-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:57863 biolink:gene_associated_with_condition MONDO:0030433 infores:ubergraph knowledge_assertion manual_agent HGNC:17601 MONDO:0030433 NCBIGene:3419 biolink:gene_associated_with_condition MONDO:0033563 infores:ubergraph knowledge_assertion manual_agent HGNC:5384 MONDO:0033563 NCBIGene:11200 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen NCBIGene:11200 MONDO:0016419 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7517 biolink:gene_associated_with_condition MONDO:0013510 infores:ubergraph knowledge_assertion manual_agent HGNC:12830 MONDO:0013510 NCBIGene:3480 biolink:gene_associated_with_condition MONDO:0010038 infores:ubergraph knowledge_assertion manual_agent HGNC:5465 MONDO:0010038 NCBIGene:6228 biolink:gene_associated_with_condition MONDO:0044311 infores:ubergraph knowledge_assertion manual_agent HGNC:10410 MONDO:0044311 NCBIGene:7046 biolink:gene_associated_with_condition MONDO:0007566 infores:ubergraph knowledge_assertion manual_agent HGNC:11772 MONDO:0007566 NCBIGene:8787 biolink:gene_associated_with_condition MONDO:0012033 infores:clingen HGNC:10004 MONDO:0012033 Moderate 2021-09-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aa6cd-9e08-4fab-b6c3-570beb8232dd-2021-09-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55572 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:55572 MONDO:0009723 Moderate 2019-10-16T14:34:53.574Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c74ba0cb-ccef-4a19-9fef-ef9996f72290-2019-10-16T143453.574Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5327 biolink:gene_associated_with_condition MONDO:0012872 infores:clingen HGNC:9051 MONDO:0012872 Disputed 2023-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c280374c-5c63-46e4-b1a0-26cdd12e357d-2023-06-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2771 biolink:gene_associated_with_condition MONDO:0008648 infores:ubergraph knowledge_assertion manual_agent HGNC:4385 MONDO:0008648 NCBIGene:6785 biolink:gene_associated_with_condition MONDO:0007574 infores:ubergraph knowledge_assertion manual_agent HGNC:14415 MONDO:0007574 NCBIGene:29071 biolink:gene_associated_with_condition MONDO:0957495 infores:clingen HGNC:24338 MONDO:0957495 Limited 2025-01-28T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a5ca158-bc76-49f8-84a0-fc60e6b13fdb-2025-01-28T050000.000Z XL X-linked 0001417 NCBIGene:84690 biolink:gene_associated_with_condition MONDO:0975842 infores:ubergraph knowledge_assertion manual_agent HGNC:30705 MONDO:0975842 NCBIGene:8291 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:3097 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94042756-2e7a-4cfa-812c-1b88b703eeea-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55650 biolink:gene_associated_with_condition MONDO:0009398 infores:ubergraph knowledge_assertion manual_agent HGNC:26031 MONDO:0009398 NCBIGene:92579 biolink:gene_associated_with_condition MONDO:0012930 infores:ubergraph knowledge_assertion manual_agent HGNC:24861 MONDO:0012930 NCBIGene:85476 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:13780 MONDO:0009723 Moderate 2019-12-19T18:51:08.232Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_154a8f96-7062-49c7-9aaa-b23a98655f40-2019-12-19T185108.232Z AR Autosomal Recessive 0000007 NCBIGene:1589 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1589 MONDO:0700096 No evidence available 0 true NCBIGene:51185 biolink:gene_associated_with_condition MONDO:0011828 infores:ubergraph knowledge_assertion manual_agent HGNC:30185 MONDO:0011828 NCBIGene:4254 biolink:gene_associated_with_condition MONDO:0007771 infores:ubergraph knowledge_assertion manual_agent HGNC:6343 MONDO:0007771 NCBIGene:26503 biolink:gene_associated_with_condition MONDO:0011449 infores:ubergraph knowledge_assertion manual_agent HGNC:10933 MONDO:0011449 NCBIGene:51412 biolink:gene_associated_with_condition MONDO:0032768 infores:ubergraph knowledge_assertion manual_agent HGNC:160 MONDO:0032768 NCBIGene:8239 biolink:gene_associated_with_condition MONDO:0010487 infores:ubergraph knowledge_assertion manual_agent HGNC:12632 MONDO:0010487 NCBIGene:7319 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7319 MONDO:0700096 No evidence available 0 true NCBIGene:8898 biolink:gene_associated_with_condition MONDO:0018776 infores:clingen HGNC:7450 MONDO:0018776 Definitive 2020-02-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44a837e2-ae06-4e4d-b7cf-ae2a3009b47d-2020-02-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:27130 biolink:gene_associated_with_condition MONDO:0011190 infores:ubergraph knowledge_assertion manual_agent HGNC:17870 MONDO:0011190 NCBIGene:24148 biolink:gene_associated_with_condition MONDO:0013516 infores:ubergraph knowledge_assertion manual_agent HGNC:15860 MONDO:0013516 NCBIGene:5903 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:9848 MONDO:0009723 Limited 2021-06-30T14:53:42.020Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_183be314-face-471f-9643-9cc1a302636f-2021-06-30T145342.020Z AD Autosomal Dominant 0000006 NCBIGene:27072 biolink:gene_associated_with_condition MONDO:0030312 infores:ubergraph knowledge_assertion manual_agent HGNC:12713 MONDO:0030312 NCBIGene:462 biolink:gene_associated_with_condition MONDO:0013144 infores:ubergraph knowledge_assertion manual_agent HGNC:775 MONDO:0013144 NCBIGene:128637 biolink:gene_associated_with_condition MONDO:0014296 infores:clingen NCBIGene:128637 MONDO:0014296 Gene associated with autosomal recessive phenotype 30 NCBIGene:23111 biolink:gene_associated_with_condition MONDO:0010156 infores:clingen HGNC:18514 MONDO:0010156 Definitive 2022-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f0c5bcd-68a3-46f2-b632-82feb28381d4-2022-12-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:275 biolink:gene_associated_with_condition MONDO:0011612 infores:clingen HGNC:473 MONDO:0011612 Definitive 2019-05-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85e1b07-b975-4c92-b592-7b3e8d35805a-2019-05-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:501 biolink:gene_associated_with_condition MONDO:0009945 infores:clingen HGNC:877 MONDO:0009945 Definitive 2019-07-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a982307-d8bd-43d1-b356-ef7ee6f32045-2019-07-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55651 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55651 MONDO:0700096 No evidence available 0 true NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0018953 infores:clingen HGNC:7392 MONDO:0018953 Definitive 2020-07-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb862dd-e6d2-4dc8-a7f3-3a03d58f9ade-2020-07-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0011240 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0011240 NCBIGene:5309 biolink:gene_associated_with_condition MONDO:0012527 infores:ubergraph knowledge_assertion manual_agent HGNC:9006 MONDO:0012527 NCBIGene:338 biolink:gene_associated_with_condition MONDO:0014252 infores:clingen NCBIGene:338 MONDO:0014252 Definitive 2020-02-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7382aae-83d5-4a23-b1fe-e3d6acea8584-2020-02-26T170000.000Z SD Semidominant 0032113 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57511 biolink:gene_associated_with_condition MONDO:0014131 infores:ubergraph knowledge_assertion manual_agent HGNC:18621 MONDO:0014131 NCBIGene:64207 biolink:gene_associated_with_condition MONDO:0005559 infores:clingen NCBIGene:64207 MONDO:0005559 Definitive 2023-09-05T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88aff22f-6b5c-4f85-987a-972263639795-2023-09-05T070000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:203 biolink:gene_associated_with_condition MONDO:0012967 infores:ubergraph knowledge_assertion manual_agent HGNC:361 MONDO:0012967 NCBIGene:342035 biolink:gene_associated_with_condition MONDO:0014965 infores:ubergraph knowledge_assertion manual_agent HGNC:29514 MONDO:0014965 NCBIGene:1308 biolink:gene_associated_with_condition MONDO:0007381 infores:ubergraph knowledge_assertion manual_agent HGNC:2194 MONDO:0007381 NCBIGene:2744 biolink:gene_associated_with_condition MONDO:0600001 infores:clingen HGNC:4331 MONDO:0600001 Definitive 2021-07-09T17:01:41.305Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1eedd351-1520-4354-9608-cf8d56ce9bd9-2021-07-09T170141.305Z AR Autosomal Recessive 0000007 NCBIGene:137492 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:137492 MONDO:0700096 No evidence available 0 true NCBIGene:55505 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55505 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5354 biolink:gene_associated_with_condition MONDO:0010733 infores:ubergraph knowledge_assertion manual_agent HGNC:9086 MONDO:0010733 NCBIGene:11340 biolink:gene_associated_with_condition MONDO:0014485 infores:ubergraph knowledge_assertion manual_agent HGNC:17035 MONDO:0014485 NCBIGene:9663 biolink:gene_associated_with_condition MONDO:0012316 infores:ubergraph knowledge_assertion manual_agent HGNC:14450 MONDO:0012316 NCBIGene:6309 biolink:gene_associated_with_condition MONDO:0011816 infores:ubergraph knowledge_assertion manual_agent HGNC:10547 MONDO:0011816 NCBIGene:23530 biolink:gene_associated_with_condition MONDO:0013874 infores:ubergraph knowledge_assertion manual_agent HGNC:7863 MONDO:0013874 NCBIGene:5664 biolink:gene_associated_with_condition MONDO:0011743 infores:ubergraph knowledge_assertion manual_agent HGNC:9509 MONDO:0011743 NCBIGene:392255 biolink:gene_associated_with_condition MONDO:0014145 infores:ubergraph knowledge_assertion manual_agent HGNC:4221 MONDO:0014145 NCBIGene:5879 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:9801 MONDO:0000508 Definitive 2023-09-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da151217-aee4-4a00-9ae1-d8b610eb216e-2023-09-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0009578 infores:ubergraph knowledge_assertion manual_agent HGNC:7989 MONDO:0009578 NCBIGene:9786 biolink:gene_associated_with_condition MONDO:0014664 infores:ubergraph knowledge_assertion manual_agent HGNC:19960 MONDO:0014664 NCBIGene:7109 biolink:gene_associated_with_condition MONDO:0859285 infores:ubergraph knowledge_assertion manual_agent HGNC:11868 MONDO:0859285 NCBIGene:90121 biolink:gene_associated_with_condition MONDO:0010493 infores:ubergraph knowledge_assertion manual_agent HGNC:25455 MONDO:0010493 NCBIGene:21 biolink:gene_associated_with_condition MONDO:0012582 infores:clingen HGNC:33 MONDO:0012582 Definitive 2024-09-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3e2d402-69a2-496f-af67-ba3aae132eab-2024-09-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4780 biolink:gene_associated_with_condition MONDO:0060591 infores:clingen HGNC:7782 MONDO:0060591 Limited 2025-08-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1472f697-3de2-466b-9e76-beea2ec6ddc3-2025-08-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:200894 biolink:gene_associated_with_condition MONDO:0018772 infores:clingen HGNC:25419 MONDO:0018772 Definitive 2020-06-03T21:01:14.719Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6c474c9-4035-498c-a902-03be50d36205-2020-06-03T210114.719Z AR Autosomal Recessive 0000007 NCBIGene:8676 biolink:gene_associated_with_condition MONDO:0011336 infores:clingen NCBIGene:8676 MONDO:0011336 Definitive 2023-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9844bf07-9887-4a28-b644-467b664fcb80-2023-09-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:331 biolink:gene_associated_with_condition MONDO:0010385 infores:ubergraph knowledge_assertion manual_agent HGNC:592 MONDO:0010385 NCBIGene:84946 biolink:gene_associated_with_condition MONDO:0859355 infores:ubergraph knowledge_assertion manual_agent HGNC:21173 MONDO:0859355 NCBIGene:5308 biolink:gene_associated_with_condition MONDO:0019187 infores:clingen NCBIGene:5308 MONDO:0019187 Sufficient evidence for dosage pathogenicity 3 NCBIGene:538 biolink:gene_associated_with_condition MONDO:0010572 infores:ubergraph knowledge_assertion manual_agent HGNC:869 MONDO:0010572 NCBIGene:6778 biolink:gene_associated_with_condition MONDO:0957807 infores:clingen HGNC:11368 MONDO:0957807 Strong 2024-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36ad71e9-f666-4b5c-82e0-02d21425d5b4-2024-10-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5568 biolink:gene_associated_with_condition MONDO:0014518 infores:clingen HGNC:9382 MONDO:0014518 Disputed 2024-05-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d74cf9f-a082-4cca-9a70-d634c3d0078b-2024-05-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:407053 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:31648 MONDO:0019497 Moderate 2023-09-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01d1a7f4-8421-4be3-8fe7-2c2025f03ac9-2023-09-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2077 biolink:gene_associated_with_condition MONDO:0010929 infores:clingen NCBIGene:2077 MONDO:0010929 Definitive 2021-06-12T06:20:24.684Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1954ba97-532a-4ef3-9d62-c4ebfd252084-2021-06-12T062024.684Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55036 biolink:gene_associated_with_condition MONDO:0013435 infores:ubergraph knowledge_assertion manual_agent HGNC:26090 MONDO:0013435 NCBIGene:22856 biolink:gene_associated_with_condition MONDO:0011533 infores:clingen NCBIGene:22856 MONDO:0011533 Gene associated with autosomal recessive phenotype 30 NCBIGene:84274 biolink:gene_associated_with_condition MONDO:0033615 infores:ubergraph knowledge_assertion manual_agent HGNC:28722 MONDO:0033615 NCBIGene:60386 biolink:gene_associated_with_condition MONDO:0013382 infores:ubergraph knowledge_assertion manual_agent HGNC:14409 MONDO:0013382 NCBIGene:29929 biolink:gene_associated_with_condition MONDO:0011291 infores:clingen NCBIGene:29929 MONDO:0011291 Definitive 2022-11-11T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a243ba1-c323-4fde-a7d2-74892c6ab367-2022-11-11T190000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:84520 biolink:gene_associated_with_condition MONDO:0030471 infores:ubergraph knowledge_assertion manual_agent HGNC:20356 MONDO:0030471 NCBIGene:3939 biolink:gene_associated_with_condition MONDO:0013047 infores:ubergraph knowledge_assertion manual_agent HGNC:6535 MONDO:0013047 NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0008671 infores:ubergraph knowledge_assertion manual_agent HGNC:7105 MONDO:0008671 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0012164 infores:ubergraph knowledge_assertion manual_agent HGNC:12796 MONDO:0012164 NCBIGene:4750 biolink:gene_associated_with_condition MONDO:0054750 infores:clingen HGNC:7744 MONDO:0054750 Definitive 2022-04-29T19:25:26.542Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb4f311c-df33-4d9e-8ac6-731b43b93615-2022-04-29T192526.542Z AD Autosomal Dominant 0000006 NCBIGene:9631 biolink:gene_associated_with_condition MONDO:0014340 infores:ubergraph knowledge_assertion manual_agent HGNC:8063 MONDO:0014340 NCBIGene:7957 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7957 MONDO:0700096 No evidence available 0 true NCBIGene:335 biolink:gene_associated_with_condition MONDO:0032766 infores:ubergraph knowledge_assertion manual_agent HGNC:600 MONDO:0032766 NCBIGene:5468 biolink:gene_associated_with_condition MONDO:0006573 infores:clingen HGNC:9236 MONDO:0006573 Definitive 2024-08-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4c76c1c-7e8a-418f-ba62-b7eeb3c3d472-2024-08-14T160000.000Z SD Semidominant 0032113 NCBIGene:4838 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4838 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:10194 biolink:gene_associated_with_condition MONDO:0011921 infores:ubergraph knowledge_assertion manual_agent HGNC:10669 MONDO:0011921 NCBIGene:57096 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57096 MONDO:0700096 No evidence available 0 true NCBIGene:8131 biolink:gene_associated_with_condition MONDO:0014925 infores:ubergraph knowledge_assertion manual_agent HGNC:14124 MONDO:0014925 NCBIGene:6330 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:10592 MONDO:0002442 Disputed 2018-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e276096-21ab-42bc-866a-b1b4dcb01753-2018-09-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9453 biolink:gene_associated_with_condition MONDO:0859189 infores:ubergraph knowledge_assertion manual_agent HGNC:4249 MONDO:0859189 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0010268 infores:clingen NCBIGene:170302 MONDO:0010268 Sufficient evidence for dosage pathogenicity 3 NCBIGene:163183 biolink:gene_associated_with_condition MONDO:0014237 infores:ubergraph knowledge_assertion manual_agent HGNC:26703 MONDO:0014237 NCBIGene:154288 biolink:gene_associated_with_condition MONDO:0013671 infores:clingen NCBIGene:154288 MONDO:0013671 Gene associated with autosomal recessive phenotype 30 NCBIGene:9442 biolink:gene_associated_with_condition MONDO:0859137 infores:clingen HGNC:2377 MONDO:0859137 Strong 2023-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58234a0f-9c8b-432f-9397-815ccfae66fc-2023-12-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8733 biolink:gene_associated_with_condition MONDO:0060627 infores:ubergraph knowledge_assertion manual_agent HGNC:4446 MONDO:0060627 NCBIGene:23568 biolink:gene_associated_with_condition MONDO:0014186 infores:ubergraph knowledge_assertion manual_agent HGNC:17146 MONDO:0014186 NCBIGene:57572 biolink:gene_associated_with_condition MONDO:0013635 infores:ubergraph knowledge_assertion manual_agent HGNC:19189 MONDO:0013635 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:6294 MONDO:0000453 Strong 2020-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5000dde0-156c-45b0-87db-35a935c69cb7-2020-10-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8504 biolink:gene_associated_with_condition MONDO:0054549 infores:clingen NCBIGene:8504 MONDO:0054549 Gene associated with autosomal recessive phenotype 30 NCBIGene:23093 biolink:gene_associated_with_condition MONDO:1040038 infores:clingen HGNC:19963 MONDO:1040038 Definitive 2023-10-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db2083b7-fe3d-459e-8874-35ed9ebb0785-2023-10-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:283310 biolink:gene_associated_with_condition MONDO:0013984 infores:clingen NCBIGene:283310 MONDO:0013984 Gene associated with autosomal recessive phenotype 30 NCBIGene:3845 biolink:gene_associated_with_condition MONDO:0010854 infores:ubergraph knowledge_assertion manual_agent HGNC:6407 MONDO:0010854 NCBIGene:2131 biolink:gene_associated_with_condition MONDO:0007585 infores:ubergraph knowledge_assertion manual_agent HGNC:3512 MONDO:0007585 NCBIGene:9780 biolink:gene_associated_with_condition MONDO:0008689 infores:ubergraph knowledge_assertion manual_agent HGNC:28993 MONDO:0008689 NCBIGene:157570 biolink:gene_associated_with_condition MONDO:0100253 infores:ubergraph knowledge_assertion manual_agent HGNC:27230 MONDO:0100253 NCBIGene:570 biolink:gene_associated_with_condition MONDO:0030991 infores:ubergraph knowledge_assertion manual_agent HGNC:932 MONDO:0030991 NCBIGene:23258 biolink:gene_associated_with_condition MONDO:0015002 infores:ubergraph knowledge_assertion manual_agent HGNC:19344 MONDO:0015002 NCBIGene:549 biolink:gene_associated_with_condition MONDO:0009610 infores:clingen HGNC:890 MONDO:0009610 Definitive 2020-06-29T17:42:31.569Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_681f6747-37ce-498e-8bb1-eddd55a90e2c-2020-06-29T174231.569Z AR Autosomal Recessive 0000007 NCBIGene:92667 biolink:gene_associated_with_condition MONDO:0014039 infores:ubergraph knowledge_assertion manual_agent HGNC:16205 MONDO:0014039 NCBIGene:57379 biolink:gene_associated_with_condition MONDO:0011528 infores:ubergraph knowledge_assertion manual_agent HGNC:13203 MONDO:0011528 NCBIGene:9971 biolink:gene_associated_with_condition MONDO:0014884 infores:ubergraph knowledge_assertion manual_agent HGNC:7967 MONDO:0014884 NCBIGene:2495 biolink:gene_associated_with_condition MONDO:0958012 infores:ubergraph knowledge_assertion manual_agent HGNC:3976 MONDO:0958012 NCBIGene:64374 biolink:gene_associated_with_condition MONDO:0009567 infores:clingen NCBIGene:64374 MONDO:0009567 Definitive 2023-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3511d4dd-48bc-4d93-9b86-16bf46fabc5d-2023-12-05T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2316 MONDO:0700096 No evidence available 0 true NCBIGene:51075 biolink:gene_associated_with_condition MONDO:0032887 infores:ubergraph knowledge_assertion manual_agent HGNC:30739 MONDO:0032887 NCBIGene:79659 biolink:gene_associated_with_condition MONDO:0013127 infores:clingen NCBIGene:79659 MONDO:0013127 Definitive 2024-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27b3d450-9f9a-4ca4-aef0-23a99ce79773-2024-11-06T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10765 biolink:gene_associated_with_condition MONDO:0020850 infores:ubergraph knowledge_assertion manual_agent HGNC:18039 MONDO:0020850 NCBIGene:5521 biolink:gene_associated_with_condition MONDO:0011439 infores:ubergraph knowledge_assertion manual_agent HGNC:9305 MONDO:0011439 NCBIGene:580 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:952 MONDO:0016248 Disputed 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02af8326-360e-4f42-a378-fefff7387d97-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6599 biolink:gene_associated_with_condition MONDO:0859376 infores:ubergraph knowledge_assertion manual_agent HGNC:11104 MONDO:0859376 NCBIGene:3561 biolink:gene_associated_with_condition MONDO:0010730 infores:ubergraph knowledge_assertion manual_agent HGNC:6010 MONDO:0010730 NCBIGene:9935 biolink:gene_associated_with_condition MONDO:0014880 infores:ubergraph knowledge_assertion manual_agent HGNC:6408 MONDO:0014880 NCBIGene:55679 biolink:gene_associated_with_condition MONDO:0014788 infores:ubergraph knowledge_assertion manual_agent HGNC:16084 MONDO:0014788 NCBIGene:5972 biolink:gene_associated_with_condition MONDO:0013128 infores:clingen HGNC:9958 MONDO:0013128 Definitive 2020-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cae92b57-f5b9-4000-9a42-72161f2d7dd3-2020-10-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:11603 MONDO:0015924 Definitive 2021-03-10T21:46:11.990Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b8cc228-67d2-4530-8129-ebafee7fafa1-2021-03-10T214611.990Z AD Autosomal Dominant 0000006 NCBIGene:920 biolink:gene_associated_with_condition MONDO:0013497 infores:ubergraph knowledge_assertion manual_agent HGNC:1678 MONDO:0013497 NCBIGene:1910 biolink:gene_associated_with_condition MONDO:0010192 infores:ubergraph knowledge_assertion manual_agent HGNC:3180 MONDO:0010192 NCBIGene:54828 biolink:gene_associated_with_condition MONDO:0859208 infores:ubergraph knowledge_assertion manual_agent HGNC:14347 MONDO:0859208 NCBIGene:6774 biolink:gene_associated_with_condition MONDO:0007818 infores:clingen HGNC:11364 MONDO:0007818 Definitive 2025-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beb3aa5b-240e-45d7-969a-9de3e5564457-2025-06-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3588 biolink:gene_associated_with_condition MONDO:0012941 infores:ubergraph knowledge_assertion manual_agent HGNC:5965 MONDO:0012941 NCBIGene:6606 biolink:gene_associated_with_condition MONDO:0009673 infores:ubergraph knowledge_assertion manual_agent HGNC:11117 MONDO:0009673 NCBIGene:55644 biolink:gene_associated_with_condition MONDO:0033007 infores:ubergraph knowledge_assertion manual_agent HGNC:18028 MONDO:0033007 NCBIGene:63924 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:63924 MONDO:0700096 No evidence available 0 true NCBIGene:51151 biolink:gene_associated_with_condition MONDO:0011683 infores:ubergraph knowledge_assertion manual_agent HGNC:16472 MONDO:0011683 NCBIGene:2068 biolink:gene_associated_with_condition MONDO:0012553 infores:ubergraph knowledge_assertion manual_agent HGNC:3434 MONDO:0012553 NCBIGene:8022 biolink:gene_associated_with_condition MONDO:0009091 infores:ubergraph knowledge_assertion manual_agent HGNC:6595 MONDO:0009091 NCBIGene:55074 biolink:gene_associated_with_condition MONDO:0008939 infores:ubergraph knowledge_assertion manual_agent HGNC:15822 MONDO:0008939 NCBIGene:6023 biolink:gene_associated_with_condition MONDO:0054560 infores:ubergraph knowledge_assertion manual_agent HGNC:10031 MONDO:0054560 NCBIGene:79728 biolink:gene_associated_with_condition MONDO:0700272 infores:clingen NCBIGene:79728 MONDO:0700272 Definitive 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b067d463-b881-4f67-b3a6-2924903fc119-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6508 biolink:gene_associated_with_condition MONDO:0859368 infores:ubergraph knowledge_assertion manual_agent HGNC:11029 MONDO:0859368 NCBIGene:29 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:729920 biolink:gene_associated_with_condition MONDO:0018276 infores:clingen NCBIGene:729920 MONDO:0018276 Gene associated with autosomal recessive phenotype 30 NCBIGene:2705 biolink:gene_associated_with_condition MONDO:0010549 infores:clingen HGNC:4283 MONDO:0010549 Definitive 2020-01-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcacd858-2376-4cc0-983a-156145e36595-2020-01-14T170000.000Z XL X-linked 0001417 NCBIGene:29926 biolink:gene_associated_with_condition MONDO:0014219 infores:clingen NCBIGene:29926 MONDO:0014219 Definitive 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac7d2391-9ba9-45de-870a-7a996ea0766f-2023-09-06T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4750 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4750 MONDO:0700096 No evidence available 0 true NCBIGene:54822 biolink:gene_associated_with_condition MONDO:0007104 infores:ubergraph knowledge_assertion manual_agent HGNC:17994 MONDO:0007104 NCBIGene:9241 biolink:gene_associated_with_condition MONDO:0100521 infores:clingen HGNC:7866 MONDO:0100521 Definitive 2023-07-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab71a633-1fd2-45b8-93f3-40648526631d-2023-07-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:22856 biolink:gene_associated_with_condition MONDO:0011533 infores:ubergraph knowledge_assertion manual_agent HGNC:17198 MONDO:0011533 NCBIGene:23327 biolink:gene_associated_with_condition MONDO:0014966 infores:ubergraph knowledge_assertion manual_agent HGNC:7728 MONDO:0014966 NCBIGene:3371 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:5318 MONDO:0019497 Limited 2022-07-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fce4988a-fb20-4f95-b73a-799c47b67e3b-2022-07-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2027 biolink:gene_associated_with_condition MONDO:0013046 infores:ubergraph knowledge_assertion manual_agent HGNC:3354 MONDO:0013046 NCBIGene:23230 biolink:gene_associated_with_condition MONDO:0008695 infores:ubergraph knowledge_assertion manual_agent HGNC:1908 MONDO:0008695 NCBIGene:3756 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3756 MONDO:0700096 No evidence available 0 true NCBIGene:2516 biolink:gene_associated_with_condition MONDO:0013066 infores:ubergraph knowledge_assertion manual_agent HGNC:7983 MONDO:0013066 NCBIGene:4144 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:6904 MONDO:0019625 Limited 2016-07-03T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8263 AD Autosomal Dominant 0000006 NCBIGene:845 biolink:gene_associated_with_condition MONDO:0012762 infores:ubergraph knowledge_assertion manual_agent HGNC:1513 MONDO:0012762 NCBIGene:4292 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4292 MONDO:0700096 No evidence available 0 true NCBIGene:10978 biolink:gene_associated_with_condition MONDO:0014349 infores:ubergraph knowledge_assertion manual_agent HGNC:16999 MONDO:0014349 NCBIGene:4644 biolink:gene_associated_with_condition MONDO:0008962 infores:ubergraph knowledge_assertion manual_agent HGNC:7602 MONDO:0008962 NCBIGene:387700 biolink:gene_associated_with_condition MONDO:0012786 infores:clingen NCBIGene:387700 MONDO:0012786 true Little evidence for dosage pathogenicity 1 NCBIGene:629 biolink:gene_associated_with_condition MONDO:0013042 infores:ubergraph knowledge_assertion manual_agent HGNC:1037 MONDO:0013042 NCBIGene:4627 biolink:gene_associated_with_condition MONDO:0015912 infores:clingen NCBIGene:4627 MONDO:0015912 Definitive 2018-02-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6801442-c490-44a0-9a60-84ab5b20f7ac-2018-02-20T050000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:1339 biolink:gene_associated_with_condition MONDO:0033653 infores:ubergraph knowledge_assertion manual_agent HGNC:2279 MONDO:0033653 NCBIGene:4909 biolink:gene_associated_with_condition MONDO:0013134 infores:ubergraph knowledge_assertion manual_agent HGNC:8024 MONDO:0013134 NCBIGene:137682 biolink:gene_associated_with_condition MONDO:0030056 infores:ubergraph knowledge_assertion manual_agent HGNC:28625 MONDO:0030056 NCBIGene:472 biolink:gene_associated_with_condition MONDO:0700270 infores:clingen HGNC:795 MONDO:0700270 Definitive 2024-11-22T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5acbaa2d-bdd3-40dd-b7e4-df0b0204468e-2024-11-22T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:60482 biolink:gene_associated_with_condition MONDO:0008024 infores:clingen HGNC:14025 MONDO:0008024 Moderate 2021-11-20T02:20:03.630Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6e46608-98f5-4e4d-9bcf-22e42997af6e-2021-11-20T022003.630Z AD Autosomal Dominant 0000006 NCBIGene:29927 biolink:gene_associated_with_condition MONDO:0100337 infores:ubergraph knowledge_assertion manual_agent HGNC:18276 MONDO:0100337 NCBIGene:80173 biolink:gene_associated_with_condition MONDO:0014926 infores:ubergraph knowledge_assertion manual_agent HGNC:21424 MONDO:0014926 NCBIGene:27235 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27235 MONDO:0700096 No evidence available 0 true NCBIGene:18 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:23 MONDO:0100062 Moderate 2022-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5138ad-d4b8-4ea1-aa78-b5d1f07b2b82-2022-04-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1184 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1184 MONDO:0700096 No evidence available 0 true NCBIGene:8813 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8813 MONDO:0700096 No evidence available 0 true NCBIGene:667 biolink:gene_associated_with_condition MONDO:0013839 infores:clingen HGNC:1090 MONDO:0013839 Definitive 2021-12-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d90c7de8-a72a-4c54-bab8-fe9d4aef0409-2021-12-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23250 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:13552 MONDO:0019587 Moderate 2025-05-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d997f862-6a13-4da1-93cb-8fab590f87a8-2025-05-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84947 biolink:gene_associated_with_condition MONDO:0013875 infores:clingen NCBIGene:84947 MONDO:0013875 Gene associated with autosomal recessive phenotype 30 NCBIGene:137682 biolink:gene_associated_with_condition MONDO:0032622 infores:ubergraph knowledge_assertion manual_agent HGNC:28625 MONDO:0032622 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0007549 infores:ubergraph knowledge_assertion manual_agent HGNC:2214 MONDO:0007549 NCBIGene:4796 biolink:gene_associated_with_condition MONDO:0010068 infores:ubergraph knowledge_assertion manual_agent HGNC:7801 MONDO:0010068 NCBIGene:1419 biolink:gene_associated_with_condition MONDO:0014075 infores:ubergraph knowledge_assertion manual_agent HGNC:2409 MONDO:0014075 NCBIGene:10667 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10667 MONDO:0700096 No evidence available 0 true NCBIGene:9927 biolink:gene_associated_with_condition MONDO:0007908 infores:ubergraph knowledge_assertion manual_agent HGNC:16877 MONDO:0007908 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0011877 infores:ubergraph knowledge_assertion manual_agent HGNC:6697 MONDO:0011877 NCBIGene:4573 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7496 MONDO:0044970 Moderate 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ef40a42-d2c5-4770-a251-7e2c0b0ce96a-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:55526 biolink:gene_associated_with_condition MONDO:0008774 infores:ubergraph knowledge_assertion manual_agent HGNC:23537 MONDO:0008774 NCBIGene:23279 biolink:gene_associated_with_condition MONDO:0032582 infores:clingen HGNC:18017 MONDO:0032582 Moderate 2024-07-23T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13312160-3d59-4c58-8992-c2f56d7d105d-2024-07-23T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:85440 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:19190 MONDO:0100062 Definitive 2021-07-28T19:25:12.688Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b6ed421-950b-4862-bade-dc545555ac29-2021-07-28T192512.688Z AR Autosomal Recessive 0000007 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0957875 infores:clingen NCBIGene:6709 MONDO:0957875 Sufficient evidence for dosage pathogenicity 3 NCBIGene:56896 biolink:gene_associated_with_condition MONDO:0030331 infores:ubergraph knowledge_assertion manual_agent HGNC:20637 MONDO:0030331 NCBIGene:9321 biolink:gene_associated_with_condition MONDO:0100325 infores:ubergraph knowledge_assertion manual_agent HGNC:12305 MONDO:0100325 NCBIGene:53904 biolink:gene_associated_with_condition MONDO:0011774 infores:ubergraph knowledge_assertion manual_agent HGNC:7601 MONDO:0011774 NCBIGene:128240 biolink:gene_associated_with_condition MONDO:0020781 infores:ubergraph knowledge_assertion manual_agent HGNC:18453 MONDO:0020781 NCBIGene:90167 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:90167 MONDO:0700096 No evidence available 0 true NCBIGene:8452 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:2553 MONDO:0100038 Definitive 2021-01-16T03:09:42.670Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb529ace-86b5-4209-9974-9c07a1c32956-2021-01-16T030942.670Z AD Autosomal Dominant 0000006 NCBIGene:10195 biolink:gene_associated_with_condition MONDO:0010998 infores:clingen HGNC:23056 MONDO:0010998 Definitive 2022-12-06T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1512f6a2-f64c-49d6-ab26-44cdaeef97ee-2022-12-06T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:9918 biolink:gene_associated_with_condition MONDO:0054804 infores:ubergraph knowledge_assertion manual_agent HGNC:24305 MONDO:0054804 NCBIGene:2294 biolink:gene_associated_with_condition MONDO:0009934 infores:clingen NCBIGene:2294 MONDO:0009934 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23171 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:28956 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10149 AD Autosomal Dominant 0000006 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0013015 infores:ubergraph knowledge_assertion manual_agent HGNC:10586 MONDO:0013015 NCBIGene:2819 biolink:gene_associated_with_condition MONDO:0013771 infores:ubergraph knowledge_assertion manual_agent HGNC:4455 MONDO:0013771 NCBIGene:79669 biolink:gene_associated_with_condition MONDO:0859341 infores:ubergraph knowledge_assertion manual_agent HGNC:26255 MONDO:0859341 NCBIGene:7855 biolink:gene_associated_with_condition MONDO:0958239 infores:ubergraph knowledge_assertion manual_agent HGNC:4043 MONDO:0958239 NCBIGene:3679 biolink:gene_associated_with_condition MONDO:0013177 infores:ubergraph knowledge_assertion manual_agent HGNC:6143 MONDO:0013177 NCBIGene:9739 biolink:gene_associated_with_condition MONDO:0033630 infores:ubergraph knowledge_assertion manual_agent HGNC:29010 MONDO:0033630 NCBIGene:197322 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:197322 MONDO:0700096 No evidence available 0 true NCBIGene:2322 biolink:gene_associated_with_condition MONDO:0035642 infores:ubergraph knowledge_assertion manual_agent HGNC:3765 MONDO:0035642 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0008490 infores:ubergraph knowledge_assertion manual_agent HGNC:2187 MONDO:0008490 NCBIGene:2155 biolink:gene_associated_with_condition MONDO:0009211 infores:ubergraph knowledge_assertion manual_agent HGNC:3544 MONDO:0009211 NCBIGene:4726 biolink:gene_associated_with_condition MONDO:0032615 infores:ubergraph knowledge_assertion manual_agent HGNC:7713 MONDO:0032615 NCBIGene:196528 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:18037 MONDO:0015452 Definitive 2022-12-06T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae1a697f-8dcd-4edf-a25b-e5e0593e7e61-2022-12-06T230000.000Z AD Autosomal Dominant 0000006 NCBIGene:1234 biolink:gene_associated_with_condition MONDO:0012921 infores:ubergraph knowledge_assertion manual_agent HGNC:1606 MONDO:0012921 NCBIGene:8803 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:11448 MONDO:0009723 Definitive 2019-04-18T18:01:00.762Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eedc8c99-a02a-4a34-ba72-1b0fc975e63f-2019-04-18T180100.762Z AR Autosomal Recessive 0000007 NCBIGene:215 biolink:gene_associated_with_condition MONDO:0018544 infores:ubergraph knowledge_assertion manual_agent HGNC:61 MONDO:0018544 NCBIGene:1757 biolink:gene_associated_with_condition MONDO:0010008 infores:ubergraph knowledge_assertion manual_agent HGNC:10536 MONDO:0010008 NCBIGene:7994 biolink:gene_associated_with_condition MONDO:0014558 infores:clingen NCBIGene:7994 MONDO:0014558 Sufficient evidence for dosage pathogenicity 3 NCBIGene:27302 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:20869 MONDO:0005453 Limited 2023-09-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1da0a68-cf08-4de9-8461-0808826679bd-2023-09-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:374654 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:374654 MONDO:0700096 No evidence available 0 true NCBIGene:5308 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5308 MONDO:0700096 No evidence available 0 true NCBIGene:3559 biolink:gene_associated_with_condition MONDO:0011664 infores:clingen NCBIGene:3559 MONDO:0011664 Definitive 2025-02-05T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d977a16-0957-458b-86be-2245d3953453-2025-02-05T060000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0020835 infores:ubergraph knowledge_assertion manual_agent HGNC:4823 MONDO:0020835 NCBIGene:6569 biolink:gene_associated_with_condition MONDO:0014851 infores:clingen NCBIGene:6569 MONDO:0014851 Definitive 2022-10-19T13:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b164a17-9f7b-43b2-88b2-2adb8e458c08-2022-10-19T133000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:246213 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:20151 MONDO:0019497 Definitive 2023-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c399400-090a-4b2e-93ff-0c4915ce81c7-2023-06-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10625 biolink:gene_associated_with_condition MONDO:0033542 infores:ubergraph knowledge_assertion manual_agent HGNC:16951 MONDO:0033542 NCBIGene:788 biolink:gene_associated_with_condition MONDO:0008918 infores:ubergraph knowledge_assertion manual_agent HGNC:1421 MONDO:0008918 NCBIGene:6442 biolink:gene_associated_with_condition MONDO:0016141 infores:ubergraph knowledge_assertion manual_agent HGNC:10805 MONDO:0016141 HGNC:3948 biolink:gene_associated_with_condition MONDO:0023099 infores:ubergraph knowledge_assertion manual_agent HGNC:3948 MONDO:0023099 NCBIGene:285848 biolink:gene_associated_with_condition MONDO:0014011 infores:ubergraph knowledge_assertion manual_agent HGNC:21246 MONDO:0014011 NCBIGene:79848 biolink:gene_associated_with_condition MONDO:0014288 infores:ubergraph knowledge_assertion manual_agent HGNC:26193 MONDO:0014288 NCBIGene:472 biolink:gene_associated_with_condition MONDO:0008840 infores:clingen NCBIGene:472 MONDO:0008840 Definitive 2021-07-27T20:52:39.729Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02a69e27-77dc-41bd-83d2-dda9c224ee43-2021-07-27T205239.729Z AR Autosomal Recessive 0000007 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3053 biolink:gene_associated_with_condition MONDO:0012876 infores:ubergraph knowledge_assertion manual_agent HGNC:4838 MONDO:0012876 NCBIGene:79628 biolink:gene_associated_with_condition MONDO:0013237 infores:ubergraph knowledge_assertion manual_agent HGNC:29427 MONDO:0013237 NCBIGene:112939 biolink:gene_associated_with_condition MONDO:0044306 infores:ubergraph knowledge_assertion manual_agent HGNC:20967 MONDO:0044306 NCBIGene:11041 biolink:gene_associated_with_condition MONDO:0014120 infores:ubergraph knowledge_assertion manual_agent HGNC:15685 MONDO:0014120 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0100602 infores:clingen HGNC:2200 MONDO:0100602 Definitive 2021-12-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98d6207-3f9b-4e66-a478-85c31a9fdab8-2021-12-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2184 biolink:gene_associated_with_condition MONDO:0010161 infores:clingen NCBIGene:2184 MONDO:0010161 Definitive 2020-06-29T17:41:49.440Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39c50699-f422-4bae-89ac-af13ef7cb8cc-2020-06-29T174149.440Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:440435 biolink:gene_associated_with_condition MONDO:0800396 infores:clingen HGNC:31371 MONDO:0800396 Definitive 2022-06-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53ab184d-9f73-42b6-b407-7d72f7b44c8a-2022-06-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:389207 biolink:gene_associated_with_condition MONDO:0013210 infores:clingen NCBIGene:389207 MONDO:0013210 Gene associated with autosomal recessive phenotype 30 NCBIGene:2131 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2131 MONDO:0700096 No evidence available 0 true NCBIGene:118429 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:118429 MONDO:0700096 No evidence available 0 true NCBIGene:85440 biolink:gene_associated_with_condition MONDO:0014371 infores:ubergraph knowledge_assertion manual_agent HGNC:19190 MONDO:0014371 NCBIGene:51098 biolink:gene_associated_with_condition MONDO:0014915 infores:clingen HGNC:15901 MONDO:0014915 Moderate 2025-03-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecff66ae-6f64-491b-8c7f-0969faea3341-2025-03-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55361 biolink:gene_associated_with_condition MONDO:0958240 infores:ubergraph knowledge_assertion manual_agent HGNC:30031 MONDO:0958240 NCBIGene:1917 biolink:gene_associated_with_condition MONDO:0014617 infores:ubergraph knowledge_assertion manual_agent HGNC:3192 MONDO:0014617 NCBIGene:1786 biolink:gene_associated_with_condition MONDO:0011397 infores:clingen HGNC:2976 MONDO:0011397 Definitive 2017-02-10T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_6235 AD Autosomal Dominant 0000006 NCBIGene:7043 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:11769 MONDO:0016587 Limited 2019-08-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36ed9be9-2854-49e5-801c-a8fd65fec98e-2019-08-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:672 biolink:gene_associated_with_condition MONDO:0700268 infores:ubergraph knowledge_assertion manual_agent HGNC:1100 MONDO:0700268 NCBIGene:10943 biolink:gene_associated_with_condition MONDO:0026730 infores:ubergraph knowledge_assertion manual_agent HGNC:7370 MONDO:0026730 NCBIGene:1186 biolink:gene_associated_with_condition MONDO:0008156 infores:ubergraph knowledge_assertion manual_agent HGNC:2025 MONDO:0008156 NCBIGene:220202 biolink:gene_associated_with_condition MONDO:0009097 infores:ubergraph knowledge_assertion manual_agent HGNC:13907 MONDO:0009097 NCBIGene:50814 biolink:gene_associated_with_condition MONDO:0010621 infores:clingen NCBIGene:50814 MONDO:0010621 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4141 biolink:gene_associated_with_condition MONDO:0957221 infores:ubergraph knowledge_assertion manual_agent HGNC:6898 MONDO:0957221 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0010577 infores:ubergraph knowledge_assertion manual_agent HGNC:9462 MONDO:0010577 NCBIGene:5241 biolink:gene_associated_with_condition MONDO:0009909 infores:ubergraph knowledge_assertion manual_agent HGNC:8910 MONDO:0009909 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0008477 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0008477 NCBIGene:1621 biolink:gene_associated_with_condition MONDO:0009123 infores:clingen NCBIGene:1621 MONDO:0009123 Gene associated with autosomal recessive phenotype 30 NCBIGene:2153 biolink:gene_associated_with_condition MONDO:0009210 infores:clingen NCBIGene:2153 MONDO:0009210 Definitive 2020-03-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beaa3af3-7d91-4d53-b081-de0e660c16c6-2020-03-25T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1729 biolink:gene_associated_with_condition MONDO:0014714 infores:clingen HGNC:2876 MONDO:0014714 Definitive 2024-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a6bb748-bda5-4d57-ab9c-00882cbefdf6-2024-11-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5195 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8856 MONDO:0019234 Definitive 2019-09-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_846efcc3-5456-4db3-9bc2-e441acb768cd-2019-09-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6304 biolink:gene_associated_with_condition MONDO:0030990 infores:ubergraph knowledge_assertion manual_agent HGNC:10541 MONDO:0030990 NCBIGene:57680 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57680 MONDO:0700096 No evidence available 0 true NCBIGene:3758 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3758 MONDO:0700096 No evidence available 0 true NCBIGene:80739 biolink:gene_associated_with_condition MONDO:0044316 infores:clingen HGNC:13937 MONDO:0044316 Definitive 2020-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03b93956-5abe-41f2-ba14-1e57952606b3-2020-10-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:399 biolink:gene_associated_with_condition MONDO:0032666 infores:clingen HGNC:686 MONDO:0032666 Limited 2023-03-02T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6b27fc4-bd58-429f-bf1e-326786667f96-2023-03-02T060000.000Z AR Autosomal Recessive 0000007 NCBIGene:23019 biolink:gene_associated_with_condition MONDO:0032787 infores:ubergraph knowledge_assertion manual_agent HGNC:7877 MONDO:0032787 NCBIGene:79848 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79848 MONDO:0700096 No evidence available 0 true NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010283 infores:ubergraph knowledge_assertion manual_agent HGNC:6990 MONDO:0010283 NCBIGene:81858 biolink:gene_associated_with_condition MONDO:1040029 infores:ubergraph knowledge_assertion manual_agent HGNC:25321 MONDO:1040029 NCBIGene:5825 biolink:gene_associated_with_condition MONDO:0014564 infores:ubergraph knowledge_assertion manual_agent HGNC:67 MONDO:0014564 NCBIGene:10319 biolink:gene_associated_with_condition MONDO:0013583 infores:ubergraph knowledge_assertion manual_agent HGNC:6494 MONDO:0013583 NCBIGene:523 biolink:gene_associated_with_condition MONDO:0027451 infores:ubergraph knowledge_assertion manual_agent HGNC:851 MONDO:0027451 NCBIGene:1749 biolink:gene_associated_with_condition MONDO:0008464 infores:ubergraph knowledge_assertion manual_agent HGNC:2918 MONDO:0008464 NCBIGene:8558 biolink:gene_associated_with_condition MONDO:0044324 infores:ubergraph knowledge_assertion manual_agent HGNC:1770 MONDO:0044324 NCBIGene:3064 biolink:gene_associated_with_condition MONDO:0007739 infores:clingen HGNC:4851 MONDO:0007739 Definitive 2021-11-08T19:39:55.489Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_617c18ee-9476-4bc0-b403-20bc55150c7c-2021-11-08T193955.489Z AD Autosomal Dominant 0000006 NCBIGene:54885 biolink:gene_associated_with_condition MONDO:0026726 infores:clingen HGNC:24715 MONDO:0026726 Moderate 2023-04-25T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6eac03e8-0b58-427e-b174-8ada5fad1f1c-2023-04-25T023000.000Z XL X-linked 0001417 NCBIGene:5075 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5075 MONDO:0700096 No evidence available 0 true NCBIGene:83544 biolink:gene_associated_with_condition MONDO:0013525 infores:clingen HGNC:23247 MONDO:0013525 Definitive 2024-04-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54088550-2704-4c1b-ac1b-51b62353a223-2024-04-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:111 biolink:gene_associated_with_condition MONDO:0031115 infores:clingen HGNC:236 MONDO:0031115 Definitive 2024-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec58d44e-b258-4ca1-b678-102a9a90678b-2024-09-05T160000.000Z SD Semidominant 0032113 NCBIGene:1297 biolink:gene_associated_with_condition MONDO:0013591 infores:clingen NCBIGene:1297 MONDO:0013591 true No evidence available 0 NCBIGene:1906 biolink:gene_associated_with_condition MONDO:0014312 infores:ubergraph knowledge_assertion manual_agent HGNC:3176 MONDO:0014312 NCBIGene:8456 biolink:gene_associated_with_condition MONDO:0011132 infores:ubergraph knowledge_assertion manual_agent HGNC:12765 MONDO:0011132 NCBIGene:6497 biolink:gene_associated_with_condition MONDO:0008426 infores:clingen HGNC:10896 MONDO:0008426 Definitive 2024-07-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_019ffb7a-be5f-482d-9adf-e28d5aadaede-2024-07-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:389207 biolink:gene_associated_with_condition MONDO:0013210 infores:ubergraph knowledge_assertion manual_agent HGNC:31673 MONDO:0013210 NCBIGene:5122 biolink:gene_associated_with_condition MONDO:0010961 infores:ubergraph knowledge_assertion manual_agent HGNC:8743 MONDO:0010961 NCBIGene:6658 biolink:gene_associated_with_condition MONDO:0010252 infores:clingen NCBIGene:6658 MONDO:0010252 Some evidence for dosage pathogenicity 2 NCBIGene:80308 biolink:gene_associated_with_condition MONDO:0009703 infores:clingen HGNC:24671 MONDO:0009703 Definitive 2020-12-16T18:19:02.981Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_769764bf-09c5-4a7d-8501-5fcf154fcdda-2020-12-16T181902.981Z AR Autosomal Recessive 0000007 NCBIGene:2318 biolink:gene_associated_with_condition MONDO:0014883 infores:ubergraph knowledge_assertion manual_agent HGNC:3756 MONDO:0014883 NCBIGene:65082 biolink:gene_associated_with_condition MONDO:0015012 infores:clingen HGNC:18179 MONDO:0015012 Moderate 2023-10-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70662e64-a50a-49d1-aaac-46429d840062-2023-10-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2672 biolink:gene_associated_with_condition MONDO:0011922 infores:ubergraph knowledge_assertion manual_agent HGNC:4237 MONDO:0011922 NCBIGene:8911 biolink:gene_associated_with_condition MONDO:0859313 infores:ubergraph knowledge_assertion manual_agent HGNC:1396 MONDO:0859313 NCBIGene:10320 biolink:gene_associated_with_condition MONDO:0014810 infores:clingen NCBIGene:10320 MONDO:0014810 Definitive 2022-09-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be4b4555-477b-477b-bff9-7fcc8883806a-2022-09-13T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:267010 biolink:gene_associated_with_condition MONDO:0011287 infores:ubergraph knowledge_assertion manual_agent HGNC:19380 MONDO:0011287 NCBIGene:6608 biolink:gene_associated_with_condition MONDO:1030005 infores:clingen HGNC:11119 MONDO:1030005 Definitive 2023-11-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c11d5f4e-0baa-4846-ad03-762658b7708e-2023-11-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3459 biolink:gene_associated_with_condition MONDO:0017901 infores:ubergraph knowledge_assertion manual_agent HGNC:5439 MONDO:0017901 NCBIGene:79728 biolink:gene_associated_with_condition MONDO:0957530 infores:ubergraph knowledge_assertion manual_agent HGNC:26144 MONDO:0957530 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:1097 MONDO:0018997 Moderate 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47cf08d5-efc6-4d42-b031-a06619873161-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:587 biolink:gene_associated_with_condition MONDO:0100058 infores:ubergraph knowledge_assertion manual_agent HGNC:977 MONDO:0100058 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0010559 infores:ubergraph knowledge_assertion manual_agent HGNC:6470 MONDO:0010559 NCBIGene:23001 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23001 MONDO:0700096 No evidence available 0 true NCBIGene:2487 biolink:gene_associated_with_condition MONDO:0008143 infores:ubergraph knowledge_assertion manual_agent HGNC:3959 MONDO:0008143 NCBIGene:91647 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:18802 MONDO:0044970 Limited 2022-04-04T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfb2ce05-0eb4-4b98-95e5-e01cac3131ac-2022-04-04T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:79728 biolink:gene_associated_with_condition MONDO:0700272 infores:ubergraph knowledge_assertion manual_agent HGNC:26144 MONDO:0700272 NCBIGene:2035 biolink:gene_associated_with_condition MONDO:0012731 infores:ubergraph knowledge_assertion manual_agent HGNC:3377 MONDO:0012731 NCBIGene:165918 biolink:gene_associated_with_condition MONDO:0012764 infores:ubergraph knowledge_assertion manual_agent HGNC:26661 MONDO:0012764 NCBIGene:53947 biolink:gene_associated_with_condition MONDO:0100587 infores:clingen HGNC:18149 MONDO:0100587 Definitive 2025-05-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e3a8df0-77f1-4395-b501-63a96016e515-2025-05-30T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:57010 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57010 MONDO:0700096 No evidence available 0 true NCBIGene:3097 biolink:gene_associated_with_condition MONDO:0014858 infores:clingen NCBIGene:3097 MONDO:0014858 Sufficient evidence for dosage pathogenicity 3 NCBIGene:85476 biolink:gene_associated_with_condition MONDO:0012191 infores:ubergraph knowledge_assertion manual_agent HGNC:13780 MONDO:0012191 NCBIGene:7015 biolink:gene_associated_with_condition MONDO:0013878 infores:ubergraph knowledge_assertion manual_agent HGNC:11730 MONDO:0013878 NCBIGene:103 biolink:gene_associated_with_condition MONDO:0700261 infores:ubergraph knowledge_assertion manual_agent HGNC:225 MONDO:0700261 NCBIGene:23394 biolink:gene_associated_with_condition MONDO:0014379 infores:clingen NCBIGene:23394 MONDO:0014379 Definitive 2020-01-14T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837200e1-ed55-415b-bd9e-6649e4abab1d-2020-01-14T230000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7401 biolink:gene_associated_with_condition MONDO:0016485 infores:clingen HGNC:12605 MONDO:0016485 Definitive 2017-03-02T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8400 AR Autosomal Recessive 0000007 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:29077 MONDO:0004691 Definitive 2024-04-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ced6e2-4d01-46b5-acd3-3964013add3b-2024-04-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0008717 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0008717 NCBIGene:1759 biolink:gene_associated_with_condition MONDO:0700339 infores:ubergraph knowledge_assertion manual_agent HGNC:2972 MONDO:0700339 NCBIGene:6102 biolink:gene_associated_with_condition MONDO:0100442 infores:clingen HGNC:10274 MONDO:0100442 Definitive 2022-03-02T21:49:41.540Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75e3203d-3841-49eb-84d4-e6238eda55ea-2022-03-02T214941.540Z XL X-linked 0001417 NCBIGene:547 biolink:gene_associated_with_condition MONDO:0013656 infores:ubergraph knowledge_assertion manual_agent HGNC:888 MONDO:0013656 NCBIGene:191 biolink:gene_associated_with_condition MONDO:0013404 infores:clingen NCBIGene:191 MONDO:0013404 Definitive 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9b3a56b-b188-44d1-9983-a059895c0ba1-2024-12-13T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7837 biolink:gene_associated_with_condition MONDO:0010015 infores:ubergraph knowledge_assertion manual_agent HGNC:14966 MONDO:0010015 NCBIGene:54658 biolink:gene_associated_with_condition MONDO:0007745 infores:ubergraph knowledge_assertion manual_agent HGNC:12530 MONDO:0007745 NCBIGene:283 biolink:gene_associated_with_condition MONDO:0012753 infores:ubergraph knowledge_assertion manual_agent HGNC:483 MONDO:0012753 NCBIGene:3423 biolink:gene_associated_with_condition MONDO:0010674 infores:clingen NCBIGene:3423 MONDO:0010674 Definitive 2018-02-21T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_753ba7a6-cef5-4665-81e9-306e11c618c5-2018-02-21T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:339829 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:339829 MONDO:0700096 No evidence available 0 true NCBIGene:1806 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1806 MONDO:0700096 No evidence available 0 true NCBIGene:959 biolink:gene_associated_with_condition MONDO:0010626 infores:clingen NCBIGene:959 MONDO:0010626 Definitive 2021-03-22T15:42:42.503Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4184ad10-d95f-4027-b75d-e4e11127febf-2021-03-22T154242.503Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5813 biolink:gene_associated_with_condition MONDO:0017811 infores:ubergraph knowledge_assertion manual_agent HGNC:9701 MONDO:0017811 NCBIGene:89781 biolink:gene_associated_with_condition MONDO:0013556 infores:ubergraph knowledge_assertion manual_agent HGNC:15844 MONDO:0013556 NCBIGene:124590 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:16356 MONDO:0019497 Disputed 2019-05-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02c62d06-b496-4a48-a514-56a772fae071-2019-05-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2038 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2038 MONDO:0700096 No evidence available 0 true NCBIGene:6492 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6492 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23417 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23417 MONDO:0700096 No evidence available 0 true NCBIGene:23316 biolink:gene_associated_with_condition MONDO:0029138 infores:ubergraph knowledge_assertion manual_agent HGNC:19347 MONDO:0029138 NCBIGene:348 biolink:gene_associated_with_condition MONDO:0010017 infores:ubergraph knowledge_assertion manual_agent HGNC:613 MONDO:0010017 NCBIGene:4160 biolink:gene_associated_with_condition MONDO:0019115 infores:ubergraph knowledge_assertion manual_agent HGNC:6932 MONDO:0019115 NCBIGene:29940 biolink:gene_associated_with_condition MONDO:0014236 infores:ubergraph knowledge_assertion manual_agent HGNC:21144 MONDO:0014236 NCBIGene:1293 biolink:gene_associated_with_condition MONDO:0100225 infores:clingen HGNC:2213 MONDO:0100225 Definitive 2022-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37d30e5c-61f5-4e4a-9ee7-573a2ed704b3-2022-06-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10804 biolink:gene_associated_with_condition MONDO:0007510 infores:clingen HGNC:4288 MONDO:0007510 Definitive 2018-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff18d307-80a8-44b8-8b1a-e26e8a7d912a-2018-04-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5566 biolink:gene_associated_with_condition MONDO:0030876 infores:ubergraph knowledge_assertion manual_agent HGNC:9380 MONDO:0030876 NCBIGene:29980 biolink:gene_associated_with_condition MONDO:0009619 infores:ubergraph knowledge_assertion manual_agent HGNC:2993 MONDO:0009619 NCBIGene:3751 biolink:gene_associated_with_condition MONDO:1040003 infores:ubergraph knowledge_assertion manual_agent HGNC:6238 MONDO:1040003 NCBIGene:3065 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4852 MONDO:0005453 Disputed 2024-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_736390a5-ec08-4a25-b6ce-0d70dae98811-2024-01-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6927 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:11621 MONDO:0015967 Definitive 2018-10-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f6d71c6-6595-49bf-a50e-fce726b22088-2018-10-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9775 biolink:gene_associated_with_condition MONDO:0009998 infores:ubergraph knowledge_assertion manual_agent HGNC:18683 MONDO:0009998 NCBIGene:7454 biolink:gene_associated_with_condition MONDO:0010518 infores:clingen HGNC:12731 MONDO:0010518 Definitive 2018-10-12T20:54:25.459Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a936b3ba-f1d0-4f14-bd56-14f64ad4de3a-2018-10-12T205425.459Z XL X-linked 0001417 NCBIGene:8642 biolink:gene_associated_with_condition MONDO:0011915 infores:ubergraph knowledge_assertion manual_agent HGNC:13681 MONDO:0011915 NCBIGene:84231 biolink:gene_associated_with_condition MONDO:0035661 infores:clingen NCBIGene:84231 MONDO:0035661 true No evidence available 0 NCBIGene:2563 biolink:gene_associated_with_condition MONDO:0013103 infores:ubergraph knowledge_assertion manual_agent HGNC:4084 MONDO:0013103 NCBIGene:3192 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3192 MONDO:0700096 No evidence available 0 true NCBIGene:27031 biolink:gene_associated_with_condition MONDO:0009966 infores:ubergraph knowledge_assertion manual_agent HGNC:7907 MONDO:0009966 NCBIGene:103 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:225 MONDO:0009723 Limited 2020-08-27T16:46:42.352Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03f538b5-43af-4699-9ddb-264077de21c9-2020-08-27T164642.352Z AR Autosomal Recessive 0000007 NCBIGene:6531 biolink:gene_associated_with_condition MONDO:0054835 infores:clingen NCBIGene:6531 MONDO:0054835 Gene associated with autosomal recessive phenotype 30 NCBIGene:203286 biolink:gene_associated_with_condition MONDO:0014158 infores:clingen NCBIGene:203286 MONDO:0014158 Definitive 2021-08-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62df8a40-0b65-46a4-89c8-51f26424c523-2021-08-25T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9217 biolink:gene_associated_with_condition MONDO:0012077 infores:ubergraph knowledge_assertion manual_agent HGNC:12649 MONDO:0012077 NCBIGene:126129 biolink:gene_associated_with_condition MONDO:0014568 infores:ubergraph knowledge_assertion manual_agent HGNC:18540 MONDO:0014568 NCBIGene:7965 biolink:gene_associated_with_condition MONDO:0054817 infores:clingen HGNC:20609 MONDO:0054817 Definitive 2025-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba6f8aa3-9aa9-4755-8dec-bb5c69005bbe-2025-09-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:966 biolink:gene_associated_with_condition MONDO:0012858 infores:clingen NCBIGene:966 MONDO:0012858 Gene associated with autosomal recessive phenotype 30 NCBIGene:917 biolink:gene_associated_with_condition MONDO:0014276 infores:clingen NCBIGene:917 MONDO:0014276 Definitive 2021-07-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea83aa7-473b-4670-88dd-36b1abe277f8-2021-07-15T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5000 biolink:gene_associated_with_condition MONDO:0013428 infores:clingen NCBIGene:5000 MONDO:0013428 Moderate 2025-06-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d00eb95c-5496-4051-a4e1-c327b71fe6e4-2025-06-30T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:219736 biolink:gene_associated_with_condition MONDO:0012266 infores:ubergraph knowledge_assertion manual_agent HGNC:23508 MONDO:0012266 NCBIGene:27068 biolink:gene_associated_with_condition MONDO:0014973 infores:ubergraph knowledge_assertion manual_agent HGNC:28883 MONDO:0014973 NCBIGene:23262 biolink:gene_associated_with_condition MONDO:0032740 infores:ubergraph knowledge_assertion manual_agent HGNC:29035 MONDO:0032740 NCBIGene:56262 biolink:gene_associated_with_condition MONDO:0015977 infores:clingen HGNC:19027 MONDO:0015977 Limited 2024-08-19T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34cc03aa-0a62-41ba-bd58-e0affc50cf25-2024-08-19T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:5744 biolink:gene_associated_with_condition MONDO:0013244 infores:ubergraph knowledge_assertion manual_agent HGNC:9607 MONDO:0013244 NCBIGene:1910 biolink:gene_associated_with_condition MONDO:0010833 infores:ubergraph knowledge_assertion manual_agent HGNC:3180 MONDO:0010833 NCBIGene:388551 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:31948 MONDO:0019497 Strong 2022-12-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcc9ab02-1df0-485a-a806-2651171120cd-2022-12-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0054802 infores:clingen HGNC:4823 MONDO:0054802 Moderate 2023-10-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df23db1a-3b2f-497f-87c4-556c51e7bdd6-2023-10-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8260 biolink:gene_associated_with_condition MONDO:0100124 infores:clingen NCBIGene:8260 MONDO:0100124 Definitive 2020-09-01T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcdd3d02-82f3-4ea3-a2b0-8ac2d4c40b1b-2020-09-01T220000.000Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:347734 biolink:gene_associated_with_condition MONDO:0859518 infores:ubergraph knowledge_assertion manual_agent HGNC:16872 MONDO:0859518 NCBIGene:6123 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:10351 MONDO:0005021 Moderate 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dae12df-f703-4e4d-99b6-b38f6ed65fa0-2025-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84699 biolink:gene_associated_with_condition MONDO:0859149 infores:ubergraph knowledge_assertion manual_agent HGNC:18855 MONDO:0859149 NCBIGene:55764 biolink:gene_associated_with_condition MONDO:0021093 infores:clingen HGNC:13556 MONDO:0021093 Definitive 2021-10-21T04:09:41.926Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e4b420a-5df1-4c3c-aca8-a5359de25a5d-2021-10-21T040941.926Z AR Autosomal Recessive 0000007 NCBIGene:1028 biolink:gene_associated_with_condition MONDO:0007534 infores:clingen NCBIGene:1028 MONDO:0007534 Sufficient evidence for dosage pathogenicity 3 NCBIGene:164 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:555 MONDO:0100038 Strong 2022-11-02T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3519527-9a80-4f0e-9ea6-c4244eb2ee33-2022-11-02T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:8943 biolink:gene_associated_with_condition MONDO:0014885 infores:clingen HGNC:568 MONDO:0014885 Moderate 2023-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec9ffa2-efda-446d-a848-e6d4d5b92fb6-2023-06-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:64682 biolink:gene_associated_with_condition MONDO:0016368 infores:clingen HGNC:19988 MONDO:0016368 Moderate 2024-09-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9160a17-6833-4930-a99f-0804a1207e49-2024-09-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:70 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:143 MONDO:0005045 Definitive 2021-06-23T20:16:16.296Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f62793b-0015-46eb-bb51-bddbae25ba0d-2021-06-23T201616.296Z AD Autosomal Dominant 0000006 NCBIGene:6905 biolink:gene_associated_with_condition MONDO:0009426 infores:clingen NCBIGene:6905 MONDO:0009426 Gene associated with autosomal recessive phenotype 30 NCBIGene:84188 biolink:gene_associated_with_condition MONDO:0100230 infores:clingen HGNC:26222 MONDO:0100230 Moderate 2025-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1068b8e8-36a1-4110-9ab4-45f9d4ece894-2025-07-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5296 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5296 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:10243 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:10243 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:1974 biolink:gene_associated_with_condition MONDO:0957541 infores:ubergraph knowledge_assertion manual_agent HGNC:3284 MONDO:0957541 NCBIGene:221178 biolink:gene_associated_with_condition MONDO:0001868 infores:clingen HGNC:23222 MONDO:0001868 Limited 2023-03-16T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ef1d5a1-5a5b-425b-998d-0c6e23d3bd40-2023-03-16T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:6834 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:6834 MONDO:0009723 Definitive 2019-04-08T16:03:38.698Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2ed17d9b-e746-4f1f-9c39-26f46bb2eadc-2019-04-08T160338.698Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9557 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9557 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:119559 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:16088 MONDO:0044970 Definitive 2023-11-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02ff9212-9668-4899-bdc9-b726564aeefe-2023-11-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:151648 biolink:gene_associated_with_condition MONDO:0014528 infores:ubergraph knowledge_assertion manual_agent HGNC:25088 MONDO:0014528 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0011569 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0011569 NCBIGene:1509 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:2529 MONDO:0016295 Definitive 2020-11-03T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba-2020-11-03T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:23476 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:13575 MONDO:0000508 Definitive 2022-04-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b28cda3-bce6-4a8f-b359-0ab398a1111d-2022-04-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6101 biolink:gene_associated_with_condition MONDO:0008377 infores:ubergraph knowledge_assertion manual_agent HGNC:10263 MONDO:0008377 NCBIGene:5073 biolink:gene_associated_with_condition MONDO:0014600 infores:ubergraph knowledge_assertion manual_agent HGNC:8609 MONDO:0014600 NCBIGene:10908 biolink:gene_associated_with_condition MONDO:0012787 infores:ubergraph knowledge_assertion manual_agent HGNC:16268 MONDO:0012787 NCBIGene:283375 biolink:gene_associated_with_condition MONDO:0014411 infores:ubergraph knowledge_assertion manual_agent HGNC:20502 MONDO:0014411 NCBIGene:8036 biolink:gene_associated_with_condition MONDO:0011899 infores:clingen HGNC:15454 MONDO:0011899 Definitive 2018-07-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ecc1335-fb21-4d65-8df2-19558e8f5c07-2018-07-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84706 biolink:gene_associated_with_condition MONDO:0014567 infores:clingen HGNC:18062 MONDO:0014567 Definitive 2021-10-05T11:54:27.845Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42a70a83-40da-4acc-b6a3-9ef3942abd14-2021-10-05T115427.845Z AR Autosomal Recessive 0000007 NCBIGene:8405 biolink:gene_associated_with_condition MONDO:0032943 infores:ubergraph knowledge_assertion manual_agent HGNC:11254 MONDO:0032943 NCBIGene:8799 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8799 MONDO:0700096 No evidence available 0 true NCBIGene:27019 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27019 MONDO:0700096 No evidence available 0 true NCBIGene:51501 biolink:gene_associated_with_condition MONDO:0014813 infores:ubergraph knowledge_assertion manual_agent HGNC:26938 MONDO:0014813 NCBIGene:3914 biolink:gene_associated_with_condition MONDO:0007094 infores:ubergraph knowledge_assertion manual_agent HGNC:6490 MONDO:0007094 NCBIGene:51412 biolink:gene_associated_with_condition MONDO:0032770 infores:ubergraph knowledge_assertion manual_agent HGNC:160 MONDO:0032770 NCBIGene:23118 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23118 MONDO:0700096 No evidence available 0 true NCBIGene:8710 biolink:gene_associated_with_condition MONDO:0014272 infores:ubergraph knowledge_assertion manual_agent HGNC:13902 MONDO:0014272 NCBIGene:654 biolink:gene_associated_with_condition MONDO:0859316 infores:clingen HGNC:1073 MONDO:0859316 Limited 2025-06-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e1d5f4-7b1a-4abc-89e7-9ce04b34e2a9-2025-06-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9213 biolink:gene_associated_with_condition MONDO:0014628 infores:ubergraph knowledge_assertion manual_agent HGNC:12827 MONDO:0014628 NCBIGene:6263 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:10485 MONDO:0100062 Limited 2023-10-03T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a277276e-7efa-45c9-ad01-74e9aa2dea63-2023-10-03T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:93233 biolink:gene_associated_with_condition MONDO:0014030 infores:clingen HGNC:26560 MONDO:0014030 Definitive 2022-08-17T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_999e752a-e549-447f-b142-265be7dd5935-2022-08-17T110000.000Z AR Autosomal Recessive 0000007 NCBIGene:51057 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:28027 MONDO:0005308 Definitive 2024-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2569ec01-fad8-47ee-ba7b-4ad4fb534c9a-2024-03-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:25778 biolink:gene_associated_with_condition MONDO:0010046 infores:ubergraph knowledge_assertion manual_agent HGNC:29043 MONDO:0010046 NCBIGene:5630 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:9461 MONDO:0004976 Limited 2022-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d11b04d-508a-4f91-9d9a-b5016fd0b940-2022-12-13T170000.000Z AD Autosomal Dominant 0000006 HGNC:12029 biolink:gene_associated_with_condition MONDO:0014160 infores:ubergraph knowledge_assertion manual_agent HGNC:12029 MONDO:0014160 NCBIGene:5651 biolink:gene_associated_with_condition MONDO:0009173 infores:ubergraph knowledge_assertion manual_agent HGNC:9490 MONDO:0009173 NCBIGene:157657 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:27232 MONDO:0005308 Definitive 2024-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_791b95ad-3c89-436c-aa6e-c153c1c1ea61-2024-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51741 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51741 MONDO:0700096 No evidence available 0 true NCBIGene:57462 biolink:gene_associated_with_condition MONDO:0032673 infores:ubergraph knowledge_assertion manual_agent HGNC:19918 MONDO:0032673 NCBIGene:6519 biolink:gene_associated_with_condition MONDO:0009067 infores:clingen NCBIGene:6519 MONDO:0009067 Definitive 2020-06-29T17:43:47.853Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbde8280-d4bc-47e8-8f3d-aed8bb05e22e-2020-06-29T174347.853Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:958 biolink:gene_associated_with_condition MONDO:0011735 infores:ubergraph knowledge_assertion manual_agent HGNC:11919 MONDO:0011735 NCBIGene:2627 biolink:gene_associated_with_condition MONDO:0010802 infores:clingen NCBIGene:2627 MONDO:0010802 Sufficient evidence for dosage pathogenicity 3 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0008473 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0008473 NCBIGene:6499 biolink:gene_associated_with_condition MONDO:0013818 infores:ubergraph knowledge_assertion manual_agent HGNC:10898 MONDO:0013818 NCBIGene:9863 biolink:gene_associated_with_condition MONDO:0033262 infores:ubergraph knowledge_assertion manual_agent HGNC:18957 MONDO:0033262 NCBIGene:10084 biolink:gene_associated_with_condition MONDO:0010653 infores:ubergraph knowledge_assertion manual_agent HGNC:9330 MONDO:0010653 NCBIGene:2688 biolink:gene_associated_with_condition MONDO:0009879 infores:ubergraph knowledge_assertion manual_agent HGNC:4261 MONDO:0009879 NCBIGene:2258 biolink:gene_associated_with_condition MONDO:0025353 infores:ubergraph knowledge_assertion manual_agent HGNC:3670 MONDO:0025353 NCBIGene:6453 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6453 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:79068 biolink:gene_associated_with_condition MONDO:0013050 infores:ubergraph knowledge_assertion manual_agent HGNC:24678 MONDO:0013050 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0007848 infores:ubergraph knowledge_assertion manual_agent HGNC:8620 MONDO:0007848 NCBIGene:3718 biolink:gene_associated_with_condition MONDO:0010938 infores:clingen HGNC:6193 MONDO:0010938 Definitive 2020-12-18T20:05:20.841Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_669dcacf-8423-4507-a36c-feab049737b3-2020-12-18T200520.841Z AR Autosomal Recessive 0000007 NCBIGene:84441 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:16259 MONDO:0005453 No Known Disease Relationship 2024-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73720a6e-7ce2-40bb-ae2a-cbdb74022a62-2024-09-03T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0012307 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0012307 NCBIGene:91746 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:91746 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:182 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:182 MONDO:0700096 No evidence available 0 true NCBIGene:6557 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6557 MONDO:0700096 No evidence available 0 true NCBIGene:9992 biolink:gene_associated_with_condition MONDO:0013370 infores:ubergraph knowledge_assertion manual_agent HGNC:6242 MONDO:0013370 NCBIGene:5243 biolink:gene_associated_with_condition MONDO:0975801 infores:ubergraph knowledge_assertion manual_agent HGNC:40 MONDO:0975801 NCBIGene:779 biolink:gene_associated_with_condition MONDO:0011163 infores:clingen HGNC:1397 MONDO:0011163 Moderate 2023-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22fff996-ca2e-473d-8a57-d2b8ff022a92-2023-04-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3690 biolink:gene_associated_with_condition MONDO:0008552 infores:clingen HGNC:6156 MONDO:0008552 Definitive 2025-06-04T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eda416fa-6e15-40df-bfd0-46a111e99ba0-2025-06-04T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:3909 biolink:gene_associated_with_condition MONDO:0030747 infores:ubergraph knowledge_assertion manual_agent HGNC:6483 MONDO:0030747 NCBIGene:124989 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:124989 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:4853 biolink:gene_associated_with_condition MONDO:0007057 infores:ubergraph knowledge_assertion manual_agent HGNC:7882 MONDO:0007057 NCBIGene:91137 biolink:gene_associated_with_condition MONDO:0014671 infores:clingen HGNC:25198 MONDO:0014671 Definitive 2020-05-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9852fb40-0df1-4668-ba57-38a4971cb244-2020-05-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:27315 biolink:gene_associated_with_condition MONDO:0013628 infores:ubergraph knowledge_assertion manual_agent HGNC:17893 MONDO:0013628 NCBIGene:4621 biolink:gene_associated_with_condition MONDO:0008675 infores:ubergraph knowledge_assertion manual_agent HGNC:7573 MONDO:0008675 NCBIGene:219285 biolink:gene_associated_with_condition MONDO:0009646 infores:ubergraph knowledge_assertion manual_agent HGNC:1349 MONDO:0009646 NCBIGene:5528 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:9312 MONDO:0100038 Definitive 2025-04-16T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b43ff91-1ea4-475b-97d9-6fbda924ea16-2025-04-16T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:476 biolink:gene_associated_with_condition MONDO:0020788 infores:ubergraph knowledge_assertion manual_agent HGNC:799 MONDO:0020788 NCBIGene:51114 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51114 MONDO:0700096 No evidence available 0 true NCBIGene:79827 biolink:gene_associated_with_condition MONDO:0020718 infores:clingen NCBIGene:79827 MONDO:0020718 Gene associated with autosomal recessive phenotype 30 NCBIGene:26277 biolink:gene_associated_with_condition MONDO:0009990 infores:ubergraph knowledge_assertion manual_agent HGNC:11824 MONDO:0009990 NCBIGene:788 biolink:gene_associated_with_condition MONDO:0008918 infores:clingen HGNC:1421 MONDO:0008918 Definitive 2018-05-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95c9aece-49b5-496f-9547-f6d03dd69b4f-2018-05-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2199 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:3601 MONDO:0015924 Limited 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9581b7-ed36-4995-aebc-839225dd0666-2022-11-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84947 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:21061 MONDO:0009723 Definitive 2021-01-14T21:33:56.750Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf6861ce-e13a-42c9-a4ff-942a83874bfd-2021-01-14T213356.750Z AR Autosomal Recessive 0000007 NCBIGene:55037 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:24717 MONDO:0009723 Limited 2019-06-20T16:44:19.242Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac3d1e08-56f0-43b6-a2fa-0d06571ba121-2019-06-20T164419.242Z AR Autosomal Recessive 0000007 NCBIGene:2245 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2245 MONDO:0700096 No evidence available 0 true NCBIGene:4693 biolink:gene_associated_with_condition MONDO:0010691 infores:ubergraph knowledge_assertion manual_agent HGNC:7678 MONDO:0010691 NCBIGene:51062 biolink:gene_associated_with_condition MONDO:0013381 infores:ubergraph knowledge_assertion manual_agent HGNC:11231 MONDO:0013381 NCBIGene:5625 biolink:gene_associated_with_condition MONDO:0009400 infores:clingen NCBIGene:5625 MONDO:0009400 Definitive 2021-04-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4547 biolink:gene_associated_with_condition MONDO:0008692 infores:clingen NCBIGene:4547 MONDO:0008692 Gene associated with autosomal recessive phenotype 30 NCBIGene:7204 biolink:gene_associated_with_condition MONDO:0014892 infores:ubergraph knowledge_assertion manual_agent HGNC:12303 MONDO:0014892 NCBIGene:10651 biolink:gene_associated_with_condition MONDO:0030880 infores:ubergraph knowledge_assertion manual_agent HGNC:7506 MONDO:0030880 NCBIGene:4548 biolink:gene_associated_with_condition MONDO:0009609 infores:ubergraph knowledge_assertion manual_agent HGNC:7468 MONDO:0009609 NCBIGene:29119 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:2511 MONDO:0016587 Limited 2019-08-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f1dd946-f2bb-496f-8fea-3dea303e2e76-2019-08-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:90952 biolink:gene_associated_with_condition MONDO:0957267 infores:ubergraph knowledge_assertion manual_agent HGNC:17474 MONDO:0957267 NCBIGene:3426 biolink:gene_associated_with_condition MONDO:0013892 infores:clingen HGNC:5394 MONDO:0013892 Moderate 2024-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_943f6c06-e32b-4052-8628-4c28de20c838-2024-06-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0011095 infores:ubergraph knowledge_assertion manual_agent HGNC:11949 MONDO:0011095 NCBIGene:51621 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:13672 MONDO:0005453 Moderate 2024-02-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0eb567cb-68fa-42bb-a80d-cc7cbfb16d6d-2024-02-12T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:57479 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57479 MONDO:0700096 No evidence available 0 true NCBIGene:718 biolink:gene_associated_with_condition MONDO:0013043 infores:clingen HGNC:1318 MONDO:0013043 Definitive 2023-09-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78a4d83e-8fb0-4b47-9dfc-5dfe618e1aa3-2023-09-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:57107 biolink:gene_associated_with_condition MONDO:0013838 infores:clingen NCBIGene:57107 MONDO:0013838 Gene associated with autosomal recessive phenotype 30 NCBIGene:387700 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:387700 MONDO:0700096 No evidence available 0 true NCBIGene:6256 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:10477 MONDO:0005453 No Known Disease Relationship 2024-10-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64fcc8f7-81ba-41df-9b28-8b60aa82b41a-2024-10-01T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:145258 biolink:gene_associated_with_condition MONDO:0011227 infores:ubergraph knowledge_assertion manual_agent HGNC:4612 MONDO:0011227 NCBIGene:2731 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2731 MONDO:0700096 No evidence available 0 true NCBIGene:1636 biolink:gene_associated_with_condition MONDO:0012963 infores:ubergraph knowledge_assertion manual_agent HGNC:2707 MONDO:0012963 NCBIGene:85378 biolink:gene_associated_with_condition MONDO:0009624 infores:clingen NCBIGene:85378 MONDO:0009624 Definitive 2023-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccb03ff1-94d3-4387-b312-ac8e38d83d89-2023-06-05T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:79648 biolink:gene_associated_with_condition MONDO:0009617 infores:clingen NCBIGene:79648 MONDO:0009617 Gene associated with autosomal recessive phenotype 30 NCBIGene:80036 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:17992 MONDO:0800439 Definitive 2024-05-23T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_938297d0-b985-4dd2-8ae0-da75a344db22-2024-05-23T060000.000Z AD Autosomal Dominant 0000006 NCBIGene:1968 biolink:gene_associated_with_condition MONDO:0010258 infores:clingen HGNC:3267 MONDO:0010258 Definitive 2021-11-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb96fe11-dd31-47b2-820d-9071035ec7b0-2021-11-11T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:80114 biolink:gene_associated_with_condition MONDO:0011037 infores:ubergraph knowledge_assertion manual_agent HGNC:19351 MONDO:0011037 NCBIGene:10233 biolink:gene_associated_with_condition MONDO:0970999 infores:ubergraph knowledge_assertion manual_agent HGNC:19138 MONDO:0970999 NCBIGene:139411 biolink:gene_associated_with_condition MONDO:0010440 infores:ubergraph knowledge_assertion manual_agent HGNC:26392 MONDO:0010440 NCBIGene:284 biolink:gene_associated_with_condition MONDO:0000365 infores:clingen HGNC:484 MONDO:0000365 Limited 2024-02-15T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62aef3ff-a230-4b1e-88d8-8097c9975031-2024-02-15T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:939 biolink:gene_associated_with_condition MONDO:0014054 infores:ubergraph knowledge_assertion manual_agent HGNC:11922 MONDO:0014054 NCBIGene:4728 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4728 MONDO:0700096 No evidence available 0 true NCBIGene:3248 biolink:gene_associated_with_condition MONDO:0024546 infores:ubergraph knowledge_assertion manual_agent HGNC:5154 MONDO:0024546 NCBIGene:4853 biolink:gene_associated_with_condition MONDO:0007057 infores:clingen HGNC:7882 MONDO:0007057 Definitive 2025-04-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4038bee8-e900-4c78-b417-9ea1adad697d-2025-04-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8626 biolink:gene_associated_with_condition MONDO:0011334 infores:ubergraph knowledge_assertion manual_agent HGNC:15979 MONDO:0011334 NCBIGene:23493 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4881 MONDO:0005453 Limited 2024-07-02T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402000e1-4aae-41f9-89b5-c5d12c1a0721-2024-07-02T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:4647 biolink:gene_associated_with_condition MONDO:0011032 infores:ubergraph knowledge_assertion manual_agent HGNC:7606 MONDO:0011032 NCBIGene:10000 biolink:gene_associated_with_condition MONDO:0100283 infores:clingen HGNC:393 MONDO:0100283 Definitive 2021-07-29T21:34:39.431Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52b1df18-387f-4c38-a655-682e4d2eb378-2021-07-29T213439.431Z AD Autosomal Dominant 0000006 NCBIGene:8842 biolink:gene_associated_with_condition MONDO:1040052 infores:clingen HGNC:9454 MONDO:1040052 Definitive 2024-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc5e9aa6-cfc9-4d12-bf28-319c2a272497-2024-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:546 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:546 MONDO:0700096 No evidence available 0 true NCBIGene:4858 biolink:gene_associated_with_condition MONDO:0030024 infores:ubergraph knowledge_assertion manual_agent HGNC:7887 MONDO:0030024 NCBIGene:51004 biolink:gene_associated_with_condition MONDO:0014754 infores:clingen HGNC:20233 MONDO:0014754 Definitive 2025-04-14T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d5d261a-0978-4940-880e-a7a6eb4fa4bf-2025-04-14T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:55033 biolink:gene_associated_with_condition MONDO:0013800 infores:clingen NCBIGene:55033 MONDO:0013800 Gene associated with autosomal recessive phenotype 30 NCBIGene:5144 biolink:gene_associated_with_condition MONDO:0013822 infores:ubergraph knowledge_assertion manual_agent HGNC:8783 MONDO:0013822 NCBIGene:24 biolink:gene_associated_with_condition MONDO:0007932 infores:ubergraph knowledge_assertion manual_agent HGNC:34 MONDO:0007932 NCBIGene:5984 biolink:gene_associated_with_condition MONDO:0975848 infores:ubergraph knowledge_assertion manual_agent HGNC:9972 MONDO:0975848 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0015369 infores:clingen NCBIGene:57545 MONDO:0015369 Gene associated with autosomal recessive phenotype 30 NCBIGene:1638 biolink:gene_associated_with_condition MONDO:0030899 infores:ubergraph knowledge_assertion manual_agent HGNC:2709 MONDO:0030899 NCBIGene:1758 biolink:gene_associated_with_condition MONDO:0009430 infores:ubergraph knowledge_assertion manual_agent HGNC:2932 MONDO:0009430 NCBIGene:375298 biolink:gene_associated_with_condition MONDO:0800401 infores:ubergraph knowledge_assertion manual_agent HGNC:21699 MONDO:0800401 NCBIGene:23321 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23321 MONDO:0700096 No evidence available 0 true NCBIGene:3954 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3954 MONDO:0700096 No evidence available 0 true NCBIGene:3350 biolink:gene_associated_with_condition MONDO:0044660 infores:ubergraph knowledge_assertion manual_agent HGNC:5286 MONDO:0044660 NCBIGene:117531 biolink:gene_associated_with_condition MONDO:0010967 infores:ubergraph knowledge_assertion manual_agent HGNC:16513 MONDO:0010967 NCBIGene:38 biolink:gene_associated_with_condition MONDO:0008760 infores:clingen HGNC:93 MONDO:0008760 Definitive 2018-05-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99bcab0a-de59-479d-8fe6-8b76cbce90ee-2018-05-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55690 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55690 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23112 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23112 MONDO:0700096 No evidence available 0 true NCBIGene:139212 biolink:gene_associated_with_condition MONDO:0010517 infores:ubergraph knowledge_assertion manual_agent HGNC:28570 MONDO:0010517 NCBIGene:5627 biolink:gene_associated_with_condition MONDO:0002304 infores:clingen HGNC:9456 MONDO:0002304 Definitive 2020-01-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10e3af9d-80aa-4934-b592-594b1bd1cd92-2020-01-22T170000.000Z SD Semidominant 0032113 NCBIGene:1837 biolink:gene_associated_with_condition MONDO:0011403 infores:ubergraph knowledge_assertion manual_agent HGNC:3057 MONDO:0011403 NCBIGene:7067 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7067 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:53904 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:53904 MONDO:0700096 No evidence available 0 true NCBIGene:5373 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5373 MONDO:0700096 No evidence available 0 true NCBIGene:9516 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:16841 MONDO:0015626 Moderate 2020-04-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7106097-314c-487a-9770-b7dea3f25f37-2020-04-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1351 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2294 MONDO:0044970 Limited 2024-03-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1671723-9b23-4f70-b64d-dd1829b926bc-2024-03-18T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0008476 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0008476 NCBIGene:2158 biolink:gene_associated_with_condition MONDO:0010604 infores:ubergraph knowledge_assertion manual_agent HGNC:3551 MONDO:0010604 NCBIGene:5727 biolink:gene_associated_with_condition MONDO:0958174 infores:ubergraph knowledge_assertion manual_agent HGNC:9585 MONDO:0958174 NCBIGene:5833 biolink:gene_associated_with_condition MONDO:0032906 infores:ubergraph knowledge_assertion manual_agent HGNC:8756 MONDO:0032906 NCBIGene:84823 biolink:gene_associated_with_condition MONDO:0030929 infores:ubergraph knowledge_assertion manual_agent HGNC:6638 MONDO:0030929 NCBIGene:90522 biolink:gene_associated_with_condition MONDO:0030878 infores:ubergraph knowledge_assertion manual_agent HGNC:30511 MONDO:0030878 NCBIGene:23096 biolink:gene_associated_with_condition MONDO:0010656 infores:ubergraph knowledge_assertion manual_agent HGNC:29059 MONDO:0010656 NCBIGene:1130 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1130 MONDO:0700096 No evidence available 0 true NCBIGene:10058 biolink:gene_associated_with_condition MONDO:0013783 infores:ubergraph knowledge_assertion manual_agent HGNC:47 MONDO:0013783 NCBIGene:80776 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:28636 MONDO:0005308 Moderate 2023-06-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebe1140c-09cc-4d05-8886-5a78267afe65-2023-06-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:146057 biolink:gene_associated_with_condition MONDO:0011464 infores:ubergraph knowledge_assertion manual_agent HGNC:19141 MONDO:0011464 NCBIGene:9487 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:8966 MONDO:0000508 Definitive 2022-12-07T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c33f1e7-bad5-4f88-93e8-02d21e7e1850-2022-12-07T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:4053 biolink:gene_associated_with_condition MONDO:0100236 infores:ubergraph knowledge_assertion manual_agent HGNC:6715 MONDO:0100236 NCBIGene:5880 biolink:gene_associated_with_condition MONDO:0033554 infores:clingen HGNC:9802 MONDO:0033554 Strong 2021-10-19T15:55:22.241Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6c1e0b1-de02-4899-9825-acc950bedcc3-2021-10-19T155522.241Z AD Autosomal Dominant 0000006 NCBIGene:6904 biolink:gene_associated_with_condition MONDO:0044646 infores:ubergraph knowledge_assertion manual_agent HGNC:11581 MONDO:0044646 NCBIGene:23765 biolink:gene_associated_with_condition MONDO:0013500 infores:ubergraph knowledge_assertion manual_agent HGNC:5985 MONDO:0013500 NCBIGene:1536 biolink:gene_associated_with_condition MONDO:0010389 infores:ubergraph knowledge_assertion manual_agent HGNC:2578 MONDO:0010389 NCBIGene:4594 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4594 MONDO:0700096 No evidence available 0 true NCBIGene:51322 biolink:gene_associated_with_condition MONDO:0018760 infores:clingen NCBIGene:51322 MONDO:0018760 Definitive 2022-11-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a1f3c78-d7d2-4a8c-8dbf-ddda78769bd7-2022-11-10T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:192670 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:192670 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:389207 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:389207 MONDO:0700096 No evidence available 0 true NCBIGene:57822 biolink:gene_associated_with_condition MONDO:0100579 infores:ubergraph knowledge_assertion manual_agent HGNC:25839 MONDO:0100579 NCBIGene:1536 biolink:gene_associated_with_condition MONDO:0010600 infores:clingen NCBIGene:1536 MONDO:0010600 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9663 biolink:gene_associated_with_condition MONDO:0012316 infores:clingen NCBIGene:9663 MONDO:0012316 Definitive 2024-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ebe7cb7-3855-465d-ab11-dcde27f1e737-2024-05-15T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23245 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23245 MONDO:0700096 No evidence available 0 true NCBIGene:63929 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:63929 MONDO:0700096 No evidence available 0 true NCBIGene:55388 biolink:gene_associated_with_condition MONDO:0030266 infores:clingen HGNC:18043 MONDO:0030266 Moderate 2024-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b68b9e6-cc1a-44ee-8860-319bc131e948-2024-06-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4763 biolink:gene_associated_with_condition MONDO:0018975 infores:clingen NCBIGene:4763 MONDO:0018975 Definitive 2019-03-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_367a3958-ce81-47fa-a505-a451ca67aab5-2019-03-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:53335 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:53335 MONDO:0700096 No evidence available 0 true NCBIGene:10743 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10743 MONDO:0700096 No evidence available 0 true NCBIGene:10049 biolink:gene_associated_with_condition MONDO:0021018 infores:ubergraph knowledge_assertion manual_agent HGNC:14888 MONDO:0021018 NCBIGene:7341 biolink:gene_associated_with_condition MONDO:0013378 infores:ubergraph knowledge_assertion manual_agent HGNC:12502 MONDO:0013378 NCBIGene:5376 biolink:gene_associated_with_condition MONDO:0008087 infores:ubergraph knowledge_assertion manual_agent HGNC:9118 MONDO:0008087 NCBIGene:54840 biolink:gene_associated_with_condition MONDO:0008842 infores:ubergraph knowledge_assertion manual_agent HGNC:15984 MONDO:0008842 NCBIGene:55129 biolink:gene_associated_with_condition MONDO:0013392 infores:clingen HGNC:25519 MONDO:0013392 Definitive 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ae3de38-041c-4440-8302-7a33de494755-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1807 biolink:gene_associated_with_condition MONDO:0009111 infores:clingen NCBIGene:1807 MONDO:0009111 Gene associated with autosomal recessive phenotype 30 NCBIGene:1305 biolink:gene_associated_with_condition MONDO:0014745 infores:ubergraph knowledge_assertion manual_agent HGNC:2190 MONDO:0014745 NCBIGene:30061 biolink:gene_associated_with_condition MONDO:0011631 infores:ubergraph knowledge_assertion manual_agent HGNC:10909 MONDO:0011631 NCBIGene:3081 biolink:gene_associated_with_condition MONDO:0008753 infores:ubergraph knowledge_assertion manual_agent HGNC:4892 MONDO:0008753 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0008310 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0008310 NCBIGene:7042 biolink:gene_associated_with_condition MONDO:0013897 infores:ubergraph knowledge_assertion manual_agent HGNC:11768 MONDO:0013897 NCBIGene:51168 biolink:gene_associated_with_condition MONDO:0010860 infores:ubergraph knowledge_assertion manual_agent HGNC:7594 MONDO:0010860 NCBIGene:1120 biolink:gene_associated_with_condition MONDO:0010923 infores:ubergraph knowledge_assertion manual_agent HGNC:1938 MONDO:0010923 NCBIGene:1636 biolink:gene_associated_with_condition MONDO:0700337 infores:clingen HGNC:2707 MONDO:0700337 Definitive 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14a5efd4-d71f-40b1-91ff-90f7f8d63ec7-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:93986 biolink:gene_associated_with_condition MONDO:0011184 infores:ubergraph knowledge_assertion manual_agent HGNC:13875 MONDO:0011184 NCBIGene:8635 biolink:gene_associated_with_condition MONDO:0013058 infores:ubergraph knowledge_assertion manual_agent HGNC:21686 MONDO:0013058 NCBIGene:4053 biolink:gene_associated_with_condition MONDO:0013122 infores:clingen HGNC:6715 MONDO:0013122 Definitive 2023-03-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f3a9450-53ca-4e64-99c8-4cc195e851d5-2023-03-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:27030 biolink:gene_associated_with_condition MONDO:0013725 infores:clingen HGNC:7128 MONDO:0013725 Limited 2024-11-04T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fa28f74-c7c8-40f3-908f-63b74bea9d94-2024-11-04T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:55630 biolink:gene_associated_with_condition MONDO:0008713 infores:clingen HGNC:17129 MONDO:0008713 Definitive 2024-09-13T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ba5370e-bfdd-4341-8486-b49e1e2eb4af-2024-09-13T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:57165 biolink:gene_associated_with_condition MONDO:0013278 infores:ubergraph knowledge_assertion manual_agent HGNC:17494 MONDO:0013278 NCBIGene:55012 biolink:gene_associated_with_condition MONDO:0032739 infores:ubergraph knowledge_assertion manual_agent HGNC:17485 MONDO:0032739 NCBIGene:170825 biolink:gene_associated_with_condition MONDO:0020762 infores:clingen HGNC:24959 MONDO:0020762 Limited 2023-02-27T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d6f7f67-63e7-4587-9216-6909f5883de9-2023-02-27T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:197258 biolink:gene_associated_with_condition MONDO:0020777 infores:clingen HGNC:29500 MONDO:0020777 Limited 2024-09-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebb05334-995a-4e93-ab33-16c35929296b-2024-09-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0007055 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0007055 NCBIGene:7369 biolink:gene_associated_with_condition MONDO:0008073 infores:ubergraph knowledge_assertion manual_agent HGNC:12559 MONDO:0008073 NCBIGene:84529 biolink:gene_associated_with_condition MONDO:0014285 infores:clingen NCBIGene:84529 MONDO:0014285 Gene associated with autosomal recessive phenotype 30 NCBIGene:24140 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:13254 MONDO:0100148 Definitive 2023-02-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bc0312a-eb44-4d79-8816-d9ef685e2c8c-2023-02-01T170000.000Z XL X-linked 0001417 NCBIGene:83715 biolink:gene_associated_with_condition MONDO:0012170 infores:clingen NCBIGene:83715 MONDO:0012170 Gene associated with autosomal recessive phenotype 30 NCBIGene:25939 biolink:gene_associated_with_condition MONDO:0700260 infores:ubergraph knowledge_assertion manual_agent HGNC:15925 MONDO:0700260 NCBIGene:25981 biolink:gene_associated_with_condition MONDO:0054615 infores:clingen HGNC:2940 MONDO:0054615 Definitive 2022-05-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a5dff5a-ff66-4e80-9eca-cb5f924edb73-2022-05-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4705 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4705 MONDO:0700096 No evidence available 0 true NCBIGene:4781 biolink:gene_associated_with_condition MONDO:0032658 infores:ubergraph knowledge_assertion manual_agent HGNC:7785 MONDO:0032658 NCBIGene:5426 biolink:gene_associated_with_condition MONDO:0014038 infores:ubergraph knowledge_assertion manual_agent HGNC:9177 MONDO:0014038 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0010963 infores:ubergraph knowledge_assertion manual_agent HGNC:12762 MONDO:0010963 NCBIGene:9692 biolink:gene_associated_with_condition MONDO:0030543 infores:ubergraph knowledge_assertion manual_agent HGNC:19958 MONDO:0030543 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0007221 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0007221 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6331 MONDO:0700096 No evidence available 0 true NCBIGene:2318 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen NCBIGene:2318 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edb5197f-05dc-42a4-a497-fff472985c6b-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23389 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:22962 MONDO:0005453 Limited 2024-02-12T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9479ebdd-98ef-48d1-8026-03360c19c23f-2024-02-12T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:4613 biolink:gene_associated_with_condition MONDO:0008115 infores:clingen NCBIGene:4613 MONDO:0008115 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22852 biolink:gene_associated_with_condition MONDO:0008555 infores:clingen NCBIGene:22852 MONDO:0008555 Definitive 2019-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e86bee2b-8353-48c2-8ea3-a6b2b26cdb2f-2019-09-25T160000.000Z AD Autosomal Dominant 0000006 No evidence available 0 true No evidence available 0 NCBIGene:5524 biolink:gene_associated_with_condition MONDO:0957576 infores:ubergraph knowledge_assertion manual_agent HGNC:9308 MONDO:0957576 NCBIGene:6334 biolink:gene_associated_with_condition MONDO:0013801 infores:ubergraph knowledge_assertion manual_agent HGNC:10596 MONDO:0013801 NCBIGene:5000 biolink:gene_associated_with_condition MONDO:0013428 infores:ubergraph knowledge_assertion manual_agent HGNC:8490 MONDO:0013428 NCBIGene:1135 biolink:gene_associated_with_condition MONDO:0017615 infores:clingen HGNC:1956 MONDO:0017615 Disputed 2020-01-07T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7916abab-d963-4e9c-8913-1decc21b680c-2020-01-07T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:55704 biolink:gene_associated_with_condition MONDO:0020495 infores:ubergraph knowledge_assertion manual_agent HGNC:25523 MONDO:0020495 NCBIGene:150094 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:11142 MONDO:0100062 Limited 2024-05-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd76888e-9502-48f3-af06-56f1ae5ed975-2024-05-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:51473 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:18141 MONDO:0005308 Definitive 2021-10-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477c8aba-eeba-43dc-a5e2-f6f84b127b8f-2021-10-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10586 biolink:gene_associated_with_condition MONDO:0014380 infores:ubergraph knowledge_assertion manual_agent HGNC:6758 MONDO:0014380 NCBIGene:283450 biolink:gene_associated_with_condition MONDO:0859516 infores:ubergraph knowledge_assertion manual_agent HGNC:26611 MONDO:0859516 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0007852 infores:ubergraph knowledge_assertion manual_agent HGNC:4284 MONDO:0007852 NCBIGene:1339 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2279 MONDO:0044970 Moderate 2024-03-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c09fbc40-dc5e-4cbd-80d1-1f918fffdceb-2024-03-18T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:9997 biolink:gene_associated_with_condition MONDO:0033850 infores:ubergraph knowledge_assertion manual_agent HGNC:10604 MONDO:0033850 NCBIGene:56945 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14508 MONDO:0044970 Definitive 2022-07-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac32e0eb-0906-406f-9d1d-baca4e5096c3-2022-07-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2257 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2257 MONDO:0700096 true No evidence available 0 NCBIGene:3703 biolink:gene_associated_with_condition MONDO:0859223 infores:ubergraph knowledge_assertion manual_agent HGNC:6172 MONDO:0859223 NCBIGene:80336 biolink:gene_associated_with_condition MONDO:0976137 infores:ubergraph knowledge_assertion manual_agent HGNC:15797 MONDO:0976137 NCBIGene:170689 biolink:gene_associated_with_condition MONDO:0957819 infores:ubergraph knowledge_assertion manual_agent HGNC:16305 MONDO:0957819 NCBIGene:9531 biolink:gene_associated_with_condition MONDO:0976227 infores:ubergraph knowledge_assertion manual_agent HGNC:939 MONDO:0976227 NCBIGene:7516 biolink:gene_associated_with_condition MONDO:0014987 infores:ubergraph knowledge_assertion manual_agent HGNC:12829 MONDO:0014987 NCBIGene:10210 biolink:gene_associated_with_condition MONDO:0700233 infores:clingen HGNC:21653 MONDO:0700233 Definitive 2023-04-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d71be46-7f7d-4567-b47d-d67015c3fa74-2023-04-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1909 biolink:gene_associated_with_condition MONDO:0014608 infores:ubergraph knowledge_assertion manual_agent HGNC:3179 MONDO:0014608 NCBIGene:7965 biolink:gene_associated_with_condition MONDO:0054817 infores:ubergraph knowledge_assertion manual_agent HGNC:20609 MONDO:0054817 NCBIGene:4549 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7470 MONDO:0044970 Definitive 2024-03-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4408d791-630e-491d-b644-0ad40319a832-2024-03-04T050000.000Z MT Mitochondrial 0001427 NCBIGene:3848 biolink:gene_associated_with_condition MONDO:0957303 infores:ubergraph knowledge_assertion manual_agent HGNC:6412 MONDO:0957303 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2261 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2998 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2998 MONDO:0700096 No evidence available 0 true NCBIGene:1439 biolink:gene_associated_with_condition MONDO:0013712 infores:clingen NCBIGene:1439 MONDO:0013712 Definitive 2024-09-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_820769fa-c7cb-4d98-ae3d-fb2cd0ae93b9-2024-09-17T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:162699 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:162699 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:80704 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:16266 MONDO:0009723 Definitive 2019-01-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3907183-4cb2-4df7-bace-ecc1821b3acc-2019-01-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9321 biolink:gene_associated_with_condition MONDO:0008701 infores:ubergraph knowledge_assertion manual_agent HGNC:12305 MONDO:0008701 NCBIGene:56616 biolink:gene_associated_with_condition MONDO:0013593 infores:ubergraph knowledge_assertion manual_agent HGNC:21528 MONDO:0013593 NCBIGene:5831 biolink:gene_associated_with_condition MONDO:0013051 infores:clingen NCBIGene:5831 MONDO:0013051 Definitive 2020-05-21T19:16:07.864Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca242cd8-1f57-4c7b-ba97-5ec0c97b425b-2020-05-21T191607.864Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1741 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1741 MONDO:0700096 No evidence available 0 true NCBIGene:5921 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5921 MONDO:0700096 No evidence available 0 true NCBIGene:4629 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4629 MONDO:0700096 No evidence available 0 true NCBIGene:2109 biolink:gene_associated_with_condition MONDO:0009282 infores:clingen NCBIGene:2109 MONDO:0009282 Definitive 2023-05-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9a8d844-c82a-4258-bd48-10e2d977273e-2023-05-23T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2318 biolink:gene_associated_with_condition MONDO:0013550 infores:ubergraph knowledge_assertion manual_agent HGNC:3756 MONDO:0013550 NCBIGene:29967 biolink:gene_associated_with_condition MONDO:0020793 infores:clingen HGNC:31708 MONDO:0020793 Moderate 2024-05-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f3f51a6-28e1-4585-8481-c5473dd8b00c-2024-05-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6103 biolink:gene_associated_with_condition MONDO:0100437 infores:ubergraph knowledge_assertion manual_agent HGNC:10295 MONDO:0100437 NCBIGene:4558 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7481 MONDO:0044970 Definitive 2023-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4b94030-f2dd-431d-9114-a7fd8b1e32a5-2023-02-16T170000.000Z MT Mitochondrial 0001427 NCBIGene:7390 biolink:gene_associated_with_condition MONDO:0009902 infores:clingen NCBIGene:7390 MONDO:0009902 Definitive 2024-11-02T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9dbf60cb-25ae-44e1-b5aa-598146e63694-2024-11-02T190000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4254 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:6343 MONDO:0019497 Limited 2018-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2934de4-e4d7-41b7-8d12-83372e3b1b28-2018-01-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5745 biolink:gene_associated_with_condition MONDO:0007434 infores:ubergraph knowledge_assertion manual_agent HGNC:9608 MONDO:0007434 NCBIGene:11005 biolink:gene_associated_with_condition MONDO:0009735 infores:ubergraph knowledge_assertion manual_agent HGNC:15464 MONDO:0009735 NCBIGene:23229 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23229 MONDO:0700096 No evidence available 0 true NCBIGene:1287 biolink:gene_associated_with_condition MONDO:0010520 infores:clingen NCBIGene:1287 MONDO:0010520 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6878 biolink:gene_associated_with_condition MONDO:0014931 infores:ubergraph knowledge_assertion manual_agent HGNC:11540 MONDO:0014931 NCBIGene:676 biolink:gene_associated_with_condition MONDO:0054725 infores:ubergraph knowledge_assertion manual_agent HGNC:1105 MONDO:0054725 NCBIGene:3630 biolink:gene_associated_with_condition MONDO:0007454 infores:ubergraph knowledge_assertion manual_agent HGNC:6081 MONDO:0007454 NCBIGene:219844 biolink:gene_associated_with_condition MONDO:0009365 infores:ubergraph knowledge_assertion manual_agent HGNC:26558 MONDO:0009365 NCBIGene:158326 biolink:gene_associated_with_condition MONDO:0013774 infores:ubergraph knowledge_assertion manual_agent HGNC:23399 MONDO:0013774 NCBIGene:84071 biolink:gene_associated_with_condition MONDO:0032748 infores:ubergraph knowledge_assertion manual_agent HGNC:23045 MONDO:0032748 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:6263 MONDO:0002442 Limited 2020-12-15T00:25:35.799Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dc2acbc-8dbe-4142-8f71-89f1576dde08-2020-12-15T002535.799Z AD Autosomal Dominant 0000006 NCBIGene:84905 biolink:gene_associated_with_condition MONDO:0032654 infores:clingen HGNC:15992 MONDO:0032654 Definitive 2024-06-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2dc4032e-7215-464d-9844-c392ec25148b-2024-06-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23405 biolink:gene_associated_with_condition MONDO:0100216 infores:clingen NCBIGene:23405 MONDO:0100216 Definitive 2023-07-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aeabfc3b-63a9-40f2-9c71-41b079fee4e2-2023-07-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6716 biolink:gene_associated_with_condition MONDO:0009923 infores:clingen NCBIGene:6716 MONDO:0009923 Gene associated with autosomal recessive phenotype 30 NCBIGene:1141 biolink:gene_associated_with_condition MONDO:0011545 infores:ubergraph knowledge_assertion manual_agent HGNC:1962 MONDO:0011545 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen NCBIGene:1832 MONDO:0005021 Sufficient evidence for dosage pathogenicity 3 NCBIGene:667 biolink:gene_associated_with_condition MONDO:0014180 infores:ubergraph knowledge_assertion manual_agent HGNC:1090 MONDO:0014180 NCBIGene:7007 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:11720 MONDO:0019497 Definitive 2018-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c7395aa-89bb-40e2-a226-0500fef478bb-2018-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23522 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23522 MONDO:0700096 No evidence available 0 true NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0014791 infores:ubergraph knowledge_assertion manual_agent HGNC:18420 MONDO:0014791 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5894 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:26053 biolink:gene_associated_with_condition MONDO:0014361 infores:ubergraph knowledge_assertion manual_agent HGNC:14262 MONDO:0014361 NCBIGene:26353 biolink:gene_associated_with_condition MONDO:0976133 infores:ubergraph knowledge_assertion manual_agent HGNC:30171 MONDO:0976133 NCBIGene:199713 biolink:gene_associated_with_condition MONDO:0009273 infores:ubergraph knowledge_assertion manual_agent HGNC:22947 MONDO:0009273 NCBIGene:5054 biolink:gene_associated_with_condition MONDO:0013227 infores:ubergraph knowledge_assertion manual_agent HGNC:8583 MONDO:0013227 NCBIGene:23639 biolink:gene_associated_with_condition MONDO:0013979 infores:ubergraph knowledge_assertion manual_agent HGNC:16725 MONDO:0013979 NCBIGene:1785 biolink:gene_associated_with_condition MONDO:0008048 infores:clingen HGNC:2974 MONDO:0008048 Definitive 2019-12-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4156721-f6b9-482c-b610-97753f3f722d-2019-12-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6295 biolink:gene_associated_with_condition MONDO:0009775 infores:ubergraph knowledge_assertion manual_agent HGNC:10521 MONDO:0009775 NCBIGene:4437 biolink:gene_associated_with_condition MONDO:0044300 infores:ubergraph knowledge_assertion manual_agent HGNC:7326 MONDO:0044300 NCBIGene:54914 biolink:gene_associated_with_condition MONDO:0859273 infores:ubergraph knowledge_assertion manual_agent HGNC:23377 MONDO:0859273 NCBIGene:9573 biolink:gene_associated_with_condition MONDO:0013375 infores:ubergraph knowledge_assertion manual_agent HGNC:4218 MONDO:0013375 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:9644 MONDO:0018997 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb08565-4669-4633-b6ed-c04e2a431cf9-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0011461 infores:ubergraph knowledge_assertion manual_agent HGNC:10585 MONDO:0011461 NCBIGene:1185 biolink:gene_associated_with_condition MONDO:0030947 infores:ubergraph knowledge_assertion manual_agent HGNC:2024 MONDO:0030947 NCBIGene:1111 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:1925 MONDO:0016419 No Known Disease Relationship 2016-10-12T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8505 AD Autosomal Dominant 0000006 NCBIGene:8450 biolink:gene_associated_with_condition MONDO:0010306 infores:clingen NCBIGene:8450 MONDO:0010306 Definitive 2018-02-21T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc93f3b2-3124-40f8-a86e-c929b09c6f68-2018-02-21T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9759 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9759 MONDO:0700096 No evidence available 0 true NCBIGene:825 biolink:gene_associated_with_condition MONDO:0029133 infores:ubergraph knowledge_assertion manual_agent HGNC:1480 MONDO:0029133 NCBIGene:875 biolink:gene_associated_with_condition MONDO:0009352 infores:clingen NCBIGene:875 MONDO:0009352 Definitive 2019-04-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9086d29-767b-4ab8-9274-1249b5480834-2019-04-12T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5277 biolink:gene_associated_with_condition MONDO:0005047 infores:clingen NCBIGene:5277 MONDO:0005047 true Little evidence for dosage pathogenicity 1 NCBIGene:4620 biolink:gene_associated_with_condition MONDO:0011577 infores:ubergraph knowledge_assertion manual_agent HGNC:7572 MONDO:0011577 NCBIGene:4087 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6768 MONDO:0005453 Definitive 2023-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0055af-46d4-42c2-93fa-f3c4d238b3d4-2023-11-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:51227 biolink:gene_associated_with_condition MONDO:0033364 infores:clingen HGNC:3046 MONDO:0033364 Moderate 2024-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1ec33e8-bb2c-4d75-9301-17fb602d2545-2024-12-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84314 biolink:gene_associated_with_condition MONDO:0033045 infores:ubergraph knowledge_assertion manual_agent HGNC:28128 MONDO:0033045 NCBIGene:91624 biolink:gene_associated_with_condition MONDO:0013147 infores:ubergraph knowledge_assertion manual_agent HGNC:29557 MONDO:0013147 NCBIGene:1911 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1911 MONDO:0700096 No evidence available 0 true NCBIGene:27086 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27086 MONDO:0700096 No evidence available 0 true NCBIGene:81857 biolink:gene_associated_with_condition MONDO:0011570 infores:clingen HGNC:28845 MONDO:0011570 Disputed 2021-03-22T20:15:27.084Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0e0d66f-c68d-4df3-bab2-71afc448e4b0-2021-03-22T201527.084Z AR Autosomal Recessive 0000007 NCBIGene:4285 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7104 MONDO:0044970 Moderate 2023-02-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c3a57a6-2bdb-420d-80fc-58a65a7863fb-2023-02-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:8289 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8289 MONDO:0700096 No evidence available 0 true NCBIGene:23389 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:23389 MONDO:0000508 Definitive 2021-04-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41758f8d-1f99-47fa-beb6-c327fa6cb940-2021-04-21T040000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23218 biolink:gene_associated_with_condition MONDO:0007686 infores:ubergraph knowledge_assertion manual_agent HGNC:31928 MONDO:0007686 NCBIGene:5664 biolink:gene_associated_with_condition MONDO:0013373 infores:ubergraph knowledge_assertion manual_agent HGNC:9509 MONDO:0013373 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007895 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0007895 NCBIGene:55343 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55343 MONDO:0700096 No evidence available 0 true NCBIGene:55503 biolink:gene_associated_with_condition MONDO:0032591 infores:ubergraph knowledge_assertion manual_agent HGNC:14006 MONDO:0032591 NCBIGene:1644 biolink:gene_associated_with_condition MONDO:0012084 infores:ubergraph knowledge_assertion manual_agent HGNC:2719 MONDO:0012084 NCBIGene:3008 biolink:gene_associated_with_condition MONDO:0044323 infores:ubergraph knowledge_assertion manual_agent HGNC:4718 MONDO:0044323 NCBIGene:8048 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:2472 MONDO:0005021 No Known Disease Relationship 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beaafc90-20ef-4c81-ad8f-cfcf69d269ca-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:768206 biolink:gene_associated_with_condition MONDO:0012523 infores:clingen NCBIGene:768206 MONDO:0012523 Gene associated with autosomal recessive phenotype 30 NCBIGene:10367 biolink:gene_associated_with_condition MONDO:0014300 infores:ubergraph knowledge_assertion manual_agent HGNC:1530 MONDO:0014300 NCBIGene:6654 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:11187 MONDO:0015280 Disputed 2018-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee5b916f-82ef-4738-82c8-46ee2fad131b-2018-06-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23405 biolink:gene_associated_with_condition MONDO:0018445 infores:ubergraph knowledge_assertion manual_agent HGNC:17098 MONDO:0018445 NCBIGene:10735 biolink:gene_associated_with_condition MONDO:0026763 infores:ubergraph knowledge_assertion manual_agent HGNC:11355 MONDO:0026763 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0009733 infores:ubergraph knowledge_assertion manual_agent HGNC:12796 MONDO:0009733 NCBIGene:5053 biolink:gene_associated_with_condition MONDO:0009861 infores:clingen NCBIGene:5053 MONDO:0009861 Definitive 2020-04-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a617cb4-94ec-4f34-b97e-10d9808a1581-2020-04-24T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5698 biolink:gene_associated_with_condition MONDO:0968983 infores:ubergraph knowledge_assertion manual_agent HGNC:9546 MONDO:0968983 NCBIGene:64919 biolink:gene_associated_with_condition MONDO:0060763 infores:clingen HGNC:13222 MONDO:0060763 Definitive 2024-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ca4f24f-78dd-4dda-a50d-07dd3d1cef07-2024-12-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7092 biolink:gene_associated_with_condition MONDO:0013123 infores:ubergraph knowledge_assertion manual_agent HGNC:11843 MONDO:0013123 NCBIGene:90459 biolink:gene_associated_with_condition MONDO:0958006 infores:ubergraph knowledge_assertion manual_agent HGNC:23994 MONDO:0958006 NCBIGene:55869 biolink:gene_associated_with_condition MONDO:0016033 infores:clingen HGNC:13315 MONDO:0016033 Definitive 2018-09-10T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7d29159-4c90-488e-a4e1-b006d70ae762-2018-09-10T220000.000Z XL X-linked 0001417 NCBIGene:554 biolink:gene_associated_with_condition MONDO:0010581 infores:clingen NCBIGene:554 MONDO:0010581 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0007365 infores:ubergraph knowledge_assertion manual_agent HGNC:6296 MONDO:0007365 NCBIGene:51750 biolink:gene_associated_with_condition MONDO:0014613 infores:ubergraph knowledge_assertion manual_agent HGNC:15888 MONDO:0014613 NCBIGene:268 biolink:gene_associated_with_condition MONDO:0009857 infores:clingen NCBIGene:268 MONDO:0009857 Gene associated with autosomal recessive phenotype 30 NCBIGene:5310 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:9008 MONDO:0004691 Definitive 2021-02-26T15:13:56.823Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09d61dec-314b-4c5f-af2e-f22fc5992c12-2021-02-26T151356.823Z AD Autosomal Dominant 0000006 NCBIGene:999 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:999 MONDO:0700096 No evidence available 0 true NCBIGene:10777 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:16968 MONDO:0004976 Limited 2025-01-14T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02d4089a-94dd-42b6-ab09-dc258db00ae9-2025-01-14T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:3094 biolink:gene_associated_with_condition MONDO:0007646 infores:ubergraph knowledge_assertion manual_agent HGNC:4912 MONDO:0007646 NCBIGene:1457 biolink:gene_associated_with_condition MONDO:0014893 infores:ubergraph knowledge_assertion manual_agent HGNC:2457 MONDO:0014893 NCBIGene:3937 biolink:gene_associated_with_condition MONDO:0030302 infores:ubergraph knowledge_assertion manual_agent HGNC:6529 MONDO:0030302 NCBIGene:84059 biolink:gene_associated_with_condition MONDO:0011443 infores:ubergraph knowledge_assertion manual_agent HGNC:17416 MONDO:0011443 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0008104 infores:clingen NCBIGene:5781 MONDO:0008104 No evidence available 0 true NCBIGene:54453 biolink:gene_associated_with_condition MONDO:0013115 infores:clingen NCBIGene:54453 MONDO:0013115 Definitive 2023-12-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7427a25e-68a1-4e1b-b951-f1a1d7b1e52b-2023-12-04T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23363 biolink:gene_associated_with_condition MONDO:0013039 infores:ubergraph knowledge_assertion manual_agent HGNC:29092 MONDO:0013039 NCBIGene:124842 biolink:gene_associated_with_condition MONDO:0032776 infores:ubergraph knowledge_assertion manual_agent HGNC:26991 MONDO:0032776 NCBIGene:55388 biolink:gene_associated_with_condition MONDO:0030266 infores:ubergraph knowledge_assertion manual_agent HGNC:18043 MONDO:0030266 NCBIGene:2178 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2178 MONDO:0700096 No evidence available 0 true NCBIGene:4638 biolink:gene_associated_with_condition MONDO:0013418 infores:ubergraph knowledge_assertion manual_agent HGNC:7590 MONDO:0013418 NCBIGene:10743 biolink:gene_associated_with_condition MONDO:0008434 infores:clingen NCBIGene:10743 MONDO:0008434 Definitive 2018-09-04T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e576e58-debf-49c6-a86d-c599806180ff-2018-09-04T220000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:114548 biolink:gene_associated_with_condition MONDO:0007349 infores:ubergraph knowledge_assertion manual_agent HGNC:16400 MONDO:0007349 NCBIGene:2627 biolink:gene_associated_with_condition MONDO:0100540 infores:clingen HGNC:4174 MONDO:0100540 Definitive 2023-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7a0fdd7-f796-4921-95b6-709fd859b6d3-2023-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:55750 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen NCBIGene:55750 MONDO:0044970 Definitive 2023-02-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f2f03ad-0f05-4e7d-b76e-f73b6e72251a-2023-02-06T050000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5727 biolink:gene_associated_with_condition MONDO:0012562 infores:ubergraph knowledge_assertion manual_agent HGNC:9585 MONDO:0012562 NCBIGene:8462 biolink:gene_associated_with_condition MONDO:0012513 infores:ubergraph knowledge_assertion manual_agent HGNC:11811 MONDO:0012513 NCBIGene:4254 biolink:gene_associated_with_condition MONDO:0030983 infores:ubergraph knowledge_assertion manual_agent HGNC:6343 MONDO:0030983 NCBIGene:1778 biolink:gene_associated_with_condition MONDO:0008026 infores:ubergraph knowledge_assertion manual_agent HGNC:2961 MONDO:0008026 NCBIGene:55164 biolink:gene_associated_with_condition MONDO:0859258 infores:ubergraph knowledge_assertion manual_agent HGNC:25543 MONDO:0859258 NCBIGene:7874 biolink:gene_associated_with_condition MONDO:0958071 infores:ubergraph knowledge_assertion manual_agent HGNC:12630 MONDO:0958071 NCBIGene:55870 biolink:gene_associated_with_condition MONDO:0030918 infores:ubergraph knowledge_assertion manual_agent HGNC:19088 MONDO:0030918 NCBIGene:1804 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:3010 MONDO:0100038 Disputed 2021-05-05T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:2020 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2020 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:11234 biolink:gene_associated_with_condition MONDO:0013557 infores:clingen HGNC:17022 MONDO:0013557 Definitive 2020-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a761e746-824f-496c-8d9f-4f8cd50423c3-2020-10-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6532 biolink:gene_associated_with_condition MONDO:0011918 infores:ubergraph knowledge_assertion manual_agent HGNC:11050 MONDO:0011918 NCBIGene:5336 biolink:gene_associated_with_condition MONDO:0013944 infores:ubergraph knowledge_assertion manual_agent HGNC:9066 MONDO:0013944 NCBIGene:126328 biolink:gene_associated_with_condition MONDO:0032619 infores:ubergraph knowledge_assertion manual_agent HGNC:20371 MONDO:0032619 NCBIGene:57649 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:57649 MONDO:0100038 Definitive 2025-02-19T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_329aa190-d20e-4f6b-9c85-58242a8a2d33-2025-02-19T110000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:126326 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:126326 MONDO:0700096 No evidence available 0 true NCBIGene:7403 biolink:gene_associated_with_condition MONDO:0010465 infores:clingen NCBIGene:7403 MONDO:0010465 Definitive 2021-07-26T20:29:03.760Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb0b5b0f-d4c9-4c46-b4cc-2e516be7908d-2021-07-26T202903.760Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5230 biolink:gene_associated_with_condition MONDO:0010392 infores:clingen NCBIGene:5230 MONDO:0010392 true Little evidence for dosage pathogenicity 1 NCBIGene:64175 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64175 MONDO:0700096 No evidence available 0 true NCBIGene:6507 biolink:gene_associated_with_condition MONDO:0012982 infores:ubergraph knowledge_assertion manual_agent HGNC:10941 MONDO:0012982 NCBIGene:1736 biolink:gene_associated_with_condition MONDO:0100152 infores:ubergraph knowledge_assertion manual_agent HGNC:2890 MONDO:0100152 NCBIGene:1376 biolink:gene_associated_with_condition MONDO:0010914 infores:ubergraph knowledge_assertion manual_agent HGNC:2330 MONDO:0010914 NCBIGene:255928 biolink:gene_associated_with_condition MONDO:0013645 infores:clingen NCBIGene:255928 MONDO:0013645 Gene associated with autosomal recessive phenotype 30 NCBIGene:3710 biolink:gene_associated_with_condition MONDO:0859311 infores:ubergraph knowledge_assertion manual_agent HGNC:6182 MONDO:0859311 NCBIGene:84231 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84231 MONDO:0700096 No evidence available 0 true NCBIGene:55252 biolink:gene_associated_with_condition MONDO:0014963 infores:ubergraph knowledge_assertion manual_agent HGNC:23805 MONDO:0014963 NCBIGene:8518 biolink:gene_associated_with_condition MONDO:0009131 infores:ubergraph knowledge_assertion manual_agent HGNC:5959 MONDO:0009131 NCBIGene:745 biolink:gene_associated_with_condition MONDO:0032653 infores:ubergraph knowledge_assertion manual_agent HGNC:1181 MONDO:0032653 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4089 MONDO:0700096 No evidence available 0 true NCBIGene:374407 biolink:gene_associated_with_condition MONDO:0014909 infores:clingen HGNC:30718 MONDO:0014909 Moderate 2025-06-12T09:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd64a9ab-9f83-43c8-a23d-2617da493010-2025-06-12T090000.000Z AR Autosomal Recessive 0000007 NCBIGene:10436 biolink:gene_associated_with_condition MONDO:0008879 infores:ubergraph knowledge_assertion manual_agent HGNC:16912 MONDO:0008879 NCBIGene:7421 biolink:gene_associated_with_condition MONDO:0010186 infores:ubergraph knowledge_assertion manual_agent HGNC:12679 MONDO:0010186 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0008278 infores:ubergraph knowledge_assertion manual_agent HGNC:6770 MONDO:0008278 NCBIGene:5745 biolink:gene_associated_with_condition MONDO:0008970 infores:ubergraph knowledge_assertion manual_agent HGNC:9608 MONDO:0008970 NCBIGene:7098 biolink:gene_associated_with_condition MONDO:0800187 infores:ubergraph knowledge_assertion manual_agent HGNC:11849 MONDO:0800187 NCBIGene:84320 biolink:gene_associated_with_condition MONDO:0968976 infores:ubergraph knowledge_assertion manual_agent HGNC:23339 MONDO:0968976 NCBIGene:7040 biolink:gene_associated_with_condition MONDO:0032601 infores:ubergraph knowledge_assertion manual_agent HGNC:11766 MONDO:0032601 NCBIGene:1962 biolink:gene_associated_with_condition MONDO:0014275 infores:ubergraph knowledge_assertion manual_agent HGNC:3247 MONDO:0014275 NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0030893 infores:ubergraph knowledge_assertion manual_agent HGNC:6215 MONDO:0030893 NCBIGene:5195 biolink:gene_associated_with_condition MONDO:0100268 infores:ubergraph knowledge_assertion manual_agent HGNC:8856 MONDO:0100268 NCBIGene:1654 biolink:gene_associated_with_condition MONDO:0010497 infores:ubergraph knowledge_assertion manual_agent HGNC:2745 MONDO:0010497 NCBIGene:27286 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27286 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2703 biolink:gene_associated_with_condition MONDO:0007285 infores:ubergraph knowledge_assertion manual_agent HGNC:4281 MONDO:0007285 NCBIGene:2639 biolink:gene_associated_with_condition MONDO:0009281 infores:clingen NCBIGene:2639 MONDO:0009281 Definitive 2019-11-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33a2c95e-a057-4b93-b97e-27b6597516e5-2019-11-08T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2916 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2916 MONDO:0700096 No evidence available 0 true NCBIGene:2188 biolink:gene_associated_with_condition MONDO:0011325 infores:clingen NCBIGene:2188 MONDO:0011325 Definitive 2021-02-03T22:54:56.822Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60719ed8-36fa-4d11-93b2-8036133510a6-2021-02-03T225456.822Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6121 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6121 MONDO:0700096 No evidence available 0 true NCBIGene:6247 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6247 MONDO:0700096 No evidence available 0 true NCBIGene:2006 biolink:gene_associated_with_condition MONDO:0008504 infores:clingen NCBIGene:2006 MONDO:0008504 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6390 biolink:gene_associated_with_condition MONDO:0030974 infores:ubergraph knowledge_assertion manual_agent HGNC:10681 MONDO:0030974 NCBIGene:23524 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23524 MONDO:0700096 No evidence available 0 true NCBIGene:4047 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4047 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:57731 biolink:gene_associated_with_condition MONDO:0060496 infores:clingen HGNC:14896 MONDO:0060496 Definitive 2022-06-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8934be-15d6-474e-b5fa-30328f633170-2022-06-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:80169 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80169 MONDO:0700096 No evidence available 0 true NCBIGene:8820 biolink:gene_associated_with_condition MONDO:0008428 infores:ubergraph knowledge_assertion manual_agent HGNC:4877 MONDO:0008428 NCBIGene:157657 biolink:gene_associated_with_condition MONDO:0013786 infores:clingen NCBIGene:157657 MONDO:0013786 Gene associated with autosomal recessive phenotype 30 NCBIGene:56922 biolink:gene_associated_with_condition MONDO:0018950 infores:clingen HGNC:6936 MONDO:0018950 Definitive 2019-10-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bd0c545-9ef8-4005-a124-a73be6178745-2019-10-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55505 biolink:gene_associated_with_condition MONDO:0957294 infores:clingen HGNC:14378 MONDO:0957294 Limited 2025-03-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9746cfcc-b3b2-485d-8bf7-6bd1272ed3b2-2025-03-18T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:79641 biolink:gene_associated_with_condition MONDO:0009185 infores:clingen NCBIGene:79641 MONDO:0009185 Definitive 2022-06-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc4132b5-fd80-440b-b7ae-65f4d28f33f1-2022-06-21T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:63929 biolink:gene_associated_with_condition MONDO:0013163 infores:ubergraph knowledge_assertion manual_agent HGNC:28052 MONDO:0013163 NCBIGene:27343 biolink:gene_associated_with_condition MONDO:0009525 infores:clingen NCBIGene:27343 MONDO:0009525 No evidence available 0 true NCBIGene:1798 biolink:gene_associated_with_condition MONDO:0011964 infores:ubergraph knowledge_assertion manual_agent HGNC:2995 MONDO:0011964 NCBIGene:29851 biolink:gene_associated_with_condition MONDO:0011864 infores:ubergraph knowledge_assertion manual_agent HGNC:5351 MONDO:0011864 NCBIGene:1830 biolink:gene_associated_with_condition MONDO:0030986 infores:ubergraph knowledge_assertion manual_agent HGNC:3050 MONDO:0030986 NCBIGene:9361 biolink:gene_associated_with_condition MONDO:0010879 infores:ubergraph knowledge_assertion manual_agent HGNC:9479 MONDO:0010879 NCBIGene:9488 biolink:gene_associated_with_condition MONDO:0032822 infores:clingen HGNC:8959 MONDO:0032822 Moderate 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a524d8c-97d7-4d4e-8338-e993c72c2e9c-2024-12-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6708 biolink:gene_associated_with_condition MONDO:0010053 infores:ubergraph knowledge_assertion manual_agent HGNC:11272 MONDO:0010053 NCBIGene:4882 biolink:gene_associated_with_condition MONDO:0014551 infores:ubergraph knowledge_assertion manual_agent HGNC:7944 MONDO:0014551 NCBIGene:22941 biolink:gene_associated_with_condition MONDO:0013265 infores:ubergraph knowledge_assertion manual_agent HGNC:14295 MONDO:0013265 NCBIGene:3048 biolink:gene_associated_with_condition MONDO:0013511 infores:ubergraph knowledge_assertion manual_agent HGNC:4832 MONDO:0013511 NCBIGene:3690 biolink:gene_associated_with_condition MONDO:0100326 infores:clingen HGNC:6156 MONDO:0100326 Definitive 2019-08-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e16b727e-c4c6-4d1d-8e66-8acab2b605fa-2019-08-28T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5111 biolink:gene_associated_with_condition MONDO:0100309 infores:clingen HGNC:8729 MONDO:0100309 Limited 2025-04-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c973fb0e-6e8d-4602-8b53-d58eca77cf1a-2025-04-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:721 biolink:gene_associated_with_condition MONDO:0013720 infores:ubergraph knowledge_assertion manual_agent HGNC:1324 MONDO:0013720 NCBIGene:5970 biolink:gene_associated_with_condition MONDO:0035694 infores:clingen HGNC:9955 MONDO:0035694 Definitive 2023-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e0145f5-c001-420c-9591-c6583862a7ca-2023-09-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2617 biolink:gene_associated_with_condition MONDO:0033621 infores:ubergraph knowledge_assertion manual_agent HGNC:4162 MONDO:0033621 NCBIGene:1967 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen NCBIGene:1967 MONDO:0800439 Gene associated with autosomal recessive phenotype 30 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:10585 MONDO:0100062 Strong 2019-10-25T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_529f9cae-ac00-47d1-94d5-52c98bf6e2a2-2019-10-25T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:9464 biolink:gene_associated_with_condition MONDO:0800476 infores:clingen HGNC:4808 MONDO:0800476 Moderate 2023-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29254c37-49c2-4d29-918f-c106989eadba-2023-07-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3720 biolink:gene_associated_with_condition MONDO:0859306 infores:clingen HGNC:6196 MONDO:0859306 Definitive 2024-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b08c9749-9fee-4354-86bc-72ab1a2bde14-2024-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2733 biolink:gene_associated_with_condition MONDO:0009670 infores:ubergraph knowledge_assertion manual_agent HGNC:4315 MONDO:0009670 NCBIGene:57560 biolink:gene_associated_with_condition MONDO:0012644 infores:clingen HGNC:29262 MONDO:0012644 Definitive 2024-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19aad708-aeaf-4601-976b-6bc2809e583e-2024-08-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9692 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:19958 MONDO:0044970 Definitive 2024-04-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3745add8-6f0f-4385-9422-afe1f3a80097-2024-04-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:11235 biolink:gene_associated_with_condition MONDO:0011305 infores:ubergraph knowledge_assertion manual_agent HGNC:8761 MONDO:0011305 NCBIGene:200942 biolink:gene_associated_with_condition MONDO:0009348 infores:ubergraph knowledge_assertion manual_agent HGNC:28557 MONDO:0009348 NCBIGene:4729 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7717 MONDO:0044970 Definitive 2023-12-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a5b5d66-4640-48a8-ac99-842593bac366-2023-12-04T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:10908 biolink:gene_associated_with_condition MONDO:0100155 infores:clingen HGNC:16268 MONDO:0100155 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcc502f3-e49f-4549-ba75-782235974d21-2023-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4848 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4848 MONDO:0700096 No evidence available 0 true NCBIGene:6505 biolink:gene_associated_with_condition MONDO:0014092 infores:ubergraph knowledge_assertion manual_agent HGNC:10939 MONDO:0014092 NCBIGene:54832 biolink:gene_associated_with_condition MONDO:0014796 infores:ubergraph knowledge_assertion manual_agent HGNC:23594 MONDO:0014796 NCBIGene:80781 biolink:gene_associated_with_condition MONDO:0800167 infores:ubergraph knowledge_assertion manual_agent HGNC:2195 MONDO:0800167 NCBIGene:1959 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1959 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7170 biolink:gene_associated_with_condition MONDO:0100108 infores:ubergraph knowledge_assertion manual_agent HGNC:12012 MONDO:0100108 NCBIGene:2475 biolink:gene_associated_with_condition MONDO:0014716 infores:ubergraph knowledge_assertion manual_agent HGNC:3942 MONDO:0014716 NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0007042 infores:clingen NCBIGene:7291 MONDO:0007042 Definitive 2021-01-28T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1730a1bb-49c2-4c11-8c45-e8747d8fb91d-2021-01-28T180000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10002 biolink:gene_associated_with_condition MONDO:0012625 infores:ubergraph knowledge_assertion manual_agent HGNC:7974 MONDO:0012625 NCBIGene:10369 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:1406 MONDO:0100038 Limited 2021-07-29T21:03:33.496Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a61ad78f-0f37-4221-82f4-710275033666-2021-07-29T210333.496Z AD Autosomal Dominant 0000006 NCBIGene:8076 biolink:gene_associated_with_condition MONDO:0014514 infores:ubergraph knowledge_assertion manual_agent HGNC:29673 MONDO:0014514 NCBIGene:9750 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:13872 MONDO:0019497 Strong 2024-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed7e0813-4e94-40a9-b3ef-ef90d5c4dce4-2024-05-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:11198 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11198 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3141 biolink:gene_associated_with_condition MONDO:0009666 infores:ubergraph knowledge_assertion manual_agent HGNC:4976 MONDO:0009666 NCBIGene:7007 biolink:gene_associated_with_condition MONDO:0011351 infores:ubergraph knowledge_assertion manual_agent HGNC:11720 MONDO:0011351 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010753 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010753 NCBIGene:7498 biolink:gene_associated_with_condition MONDO:0010209 infores:ubergraph knowledge_assertion manual_agent HGNC:12805 MONDO:0010209 NCBIGene:10312 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10312 MONDO:0700096 No evidence available 0 true NCBIGene:57704 biolink:gene_associated_with_condition MONDO:0023696 infores:ubergraph knowledge_assertion manual_agent HGNC:18986 MONDO:0023696 NCBIGene:1654 biolink:gene_associated_with_condition MONDO:0010497 infores:clingen NCBIGene:1654 MONDO:0010497 Sufficient evidence for dosage pathogenicity 3 NCBIGene:201973 biolink:gene_associated_with_condition MONDO:0014177 infores:ubergraph knowledge_assertion manual_agent HGNC:26575 MONDO:0014177 NCBIGene:825 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:1480 MONDO:0015152 Definitive 2024-08-29T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86925075-3fea-401c-90b3-6b40b2b045ca-2024-08-29T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57545 MONDO:0700096 No evidence available 0 true NCBIGene:4781 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4781 MONDO:0700096 No evidence available 0 true NCBIGene:80704 biolink:gene_associated_with_condition MONDO:0011841 infores:ubergraph knowledge_assertion manual_agent HGNC:16266 MONDO:0011841 NCBIGene:3921 biolink:gene_associated_with_condition MONDO:0010066 infores:ubergraph knowledge_assertion manual_agent HGNC:6502 MONDO:0010066 NCBIGene:7021 biolink:gene_associated_with_condition MONDO:1010098 infores:ubergraph knowledge_assertion manual_agent HGNC:11743 MONDO:1010098 NCBIGene:973 biolink:gene_associated_with_condition MONDO:0013288 infores:ubergraph knowledge_assertion manual_agent HGNC:1698 MONDO:0013288 NCBIGene:58484 biolink:gene_associated_with_condition MONDO:0014498 infores:ubergraph knowledge_assertion manual_agent HGNC:16412 MONDO:0014498 NCBIGene:26115 biolink:gene_associated_with_condition MONDO:0030051 infores:ubergraph knowledge_assertion manual_agent HGNC:30212 MONDO:0030051 NCBIGene:8883 biolink:gene_associated_with_condition MONDO:0859361 infores:ubergraph knowledge_assertion manual_agent HGNC:621 MONDO:0859361 NCBIGene:51371 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51371 MONDO:0700096 No evidence available 0 true NCBIGene:11020 biolink:gene_associated_with_condition MONDO:0014447 infores:ubergraph knowledge_assertion manual_agent HGNC:18626 MONDO:0014447 NCBIGene:6330 biolink:gene_associated_with_condition MONDO:0012737 infores:ubergraph knowledge_assertion manual_agent HGNC:10592 MONDO:0012737 NCBIGene:26022 biolink:gene_associated_with_condition MONDO:0014426 infores:ubergraph knowledge_assertion manual_agent HGNC:24529 MONDO:0014426 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0007265 infores:ubergraph knowledge_assertion manual_agent HGNC:1097 MONDO:0007265 NCBIGene:1013 biolink:gene_associated_with_condition MONDO:0012946 infores:ubergraph knowledge_assertion manual_agent HGNC:1754 MONDO:0012946 NCBIGene:10594 biolink:gene_associated_with_condition MONDO:0700234 infores:ubergraph knowledge_assertion manual_agent HGNC:17340 MONDO:0700234 NCBIGene:23154 biolink:gene_associated_with_condition MONDO:0859162 infores:ubergraph knowledge_assertion manual_agent HGNC:17597 MONDO:0859162 NCBIGene:9364 biolink:gene_associated_with_condition MONDO:0100448 infores:clingen HGNC:9768 MONDO:0100448 Definitive 2021-11-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8e3c7bd-3ee5-404d-98b0-75af6ec257d1-2021-11-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84282 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84282 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23169 biolink:gene_associated_with_condition MONDO:0010013 infores:clingen NCBIGene:23169 MONDO:0010013 Definitive 2024-12-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ee94dfc-b68e-4a26-ab68-7af456b9d826-2024-12-23T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:728294 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:28358 MONDO:0044970 Definitive 2023-10-02T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90674a82-f43e-4435-88c8-121a57b8ab19-2023-10-02T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:2202 biolink:gene_associated_with_condition MONDO:0007471 infores:ubergraph knowledge_assertion manual_agent HGNC:3218 MONDO:0007471 NCBIGene:8216 biolink:gene_associated_with_condition MONDO:0014299 infores:ubergraph knowledge_assertion manual_agent HGNC:6742 MONDO:0014299 NCBIGene:23543 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:9906 MONDO:0005453 Strong 2024-05-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed2c6ea3-402b-482d-ba7e-24e8cf2fb681-2024-05-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2022 biolink:gene_associated_with_condition MONDO:0017380 infores:clingen HGNC:3349 MONDO:0017380 Limited 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08c5b377-a2a1-44ac-9b7e-dc2141ee7a04-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:4323 biolink:gene_associated_with_condition MONDO:0010201 infores:ubergraph knowledge_assertion manual_agent HGNC:7160 MONDO:0010201 NCBIGene:6144 biolink:gene_associated_with_condition MONDO:0014384 infores:ubergraph knowledge_assertion manual_agent HGNC:10313 MONDO:0014384 NCBIGene:10320 biolink:gene_associated_with_condition MONDO:0014810 infores:ubergraph knowledge_assertion manual_agent HGNC:13176 MONDO:0014810 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4000 MONDO:0700096 No evidence available 0 true NCBIGene:147912 biolink:gene_associated_with_condition MONDO:0007029 infores:clingen HGNC:10891 MONDO:0007029 Disputed 2018-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0667561f-aa48-4ad5-b4ff-45aac933b255-2018-01-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:55209 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:25566 MONDO:0800439 Definitive 2023-07-27T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0964426-ce53-46d4-87bb-e1eba4ac25ed-2023-07-27T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:8621 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8621 MONDO:0700096 No evidence available 0 true NCBIGene:29089 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29089 MONDO:0700096 No evidence available 0 true NCBIGene:4784 biolink:gene_associated_with_condition MONDO:0011244 infores:clingen HGNC:7788 MONDO:0011244 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ea5e599-a88b-46de-be18-62e71389c413-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26275 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:4908 MONDO:0009723 Definitive 2021-06-14T14:23:17.786Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_079ed613-0c28-494f-9852-9baf495f26ba-2021-06-14T142317.786Z AR Autosomal Recessive 0000007 NCBIGene:10584 biolink:gene_associated_with_condition MONDO:0009554 infores:ubergraph knowledge_assertion manual_agent HGNC:2220 MONDO:0009554 NCBIGene:3075 biolink:gene_associated_with_condition MONDO:0012350 infores:ubergraph knowledge_assertion manual_agent HGNC:4883 MONDO:0012350 NCBIGene:6597 biolink:gene_associated_with_condition MONDO:0013224 infores:clingen NCBIGene:6597 MONDO:0013224 Definitive 2018-06-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5edb191-f515-47a3-b1d8-cc723eaef665-2018-06-29T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007562 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0007562 NCBIGene:4052 biolink:gene_associated_with_condition MONDO:0030337 infores:ubergraph knowledge_assertion manual_agent HGNC:6714 MONDO:0030337 NCBIGene:8550 biolink:gene_associated_with_condition MONDO:0859247 infores:ubergraph knowledge_assertion manual_agent HGNC:6889 MONDO:0859247 NCBIGene:57449 biolink:gene_associated_with_condition MONDO:0012608 infores:ubergraph knowledge_assertion manual_agent HGNC:29105 MONDO:0012608 NCBIGene:91942 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:91942 MONDO:0009723 Definitive 2020-11-23T19:36:34.959Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c26c06d-17dc-4783-8145-5de35c9a73f5-2020-11-23T193634.959Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:114803 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:114803 MONDO:0700096 No evidence available 0 true NCBIGene:27349 biolink:gene_associated_with_condition MONDO:0957935 infores:ubergraph knowledge_assertion manual_agent HGNC:29622 MONDO:0957935 NCBIGene:2153 biolink:gene_associated_with_condition MONDO:0008560 infores:clingen HGNC:3542 MONDO:0008560 Definitive 2019-09-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab28e09c-08ff-4149-a536-3cdb9cc4099f-2019-09-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7169 biolink:gene_associated_with_condition MONDO:0007157 infores:ubergraph knowledge_assertion manual_agent HGNC:12011 MONDO:0007157 NCBIGene:3073 biolink:gene_associated_with_condition MONDO:0010100 infores:clingen HGNC:4878 MONDO:0010100 Definitive 2020-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f7530b5-af31-40f9-ac18-a1b4d404285a-2020-05-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7037 biolink:gene_associated_with_condition MONDO:0014760 infores:clingen HGNC:11763 MONDO:0014760 Definitive 2025-03-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d4f6437-081d-41e9-992a-afb73b72ef3b-2025-03-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3981 biolink:gene_associated_with_condition MONDO:0011686 infores:ubergraph knowledge_assertion manual_agent HGNC:6601 MONDO:0011686 NCBIGene:84868 biolink:gene_associated_with_condition MONDO:0019475 infores:ubergraph knowledge_assertion manual_agent HGNC:18437 MONDO:0019475 NCBIGene:23126 biolink:gene_associated_with_condition MONDO:0014606 infores:ubergraph knowledge_assertion manual_agent HGNC:18801 MONDO:0014606 NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0032802 infores:ubergraph knowledge_assertion manual_agent HGNC:2186 MONDO:0032802 NCBIGene:84062 biolink:gene_associated_with_condition MONDO:0013559 infores:ubergraph knowledge_assertion manual_agent HGNC:17328 MONDO:0013559 NCBIGene:55627 biolink:gene_associated_with_condition MONDO:0032838 infores:ubergraph knowledge_assertion manual_agent HGNC:32949 MONDO:0032838 NCBIGene:23094 biolink:gene_associated_with_condition MONDO:0014799 infores:ubergraph knowledge_assertion manual_agent HGNC:23801 MONDO:0014799 NCBIGene:388551 biolink:gene_associated_with_condition MONDO:0032732 infores:ubergraph knowledge_assertion manual_agent HGNC:31948 MONDO:0032732 NCBIGene:56006 biolink:gene_associated_with_condition MONDO:0014833 infores:ubergraph knowledge_assertion manual_agent HGNC:25763 MONDO:0014833 NCBIGene:2055 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:2079 MONDO:0016295 Definitive 2020-09-07T22:01:16.243Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z AR Autosomal Recessive 0000007 NCBIGene:55532 biolink:gene_associated_with_condition MONDO:0013208 infores:ubergraph knowledge_assertion manual_agent HGNC:25355 MONDO:0013208 NCBIGene:5314 biolink:gene_associated_with_condition MONDO:0033004 infores:ubergraph knowledge_assertion manual_agent HGNC:9016 MONDO:0033004 NCBIGene:7274 biolink:gene_associated_with_condition MONDO:0010188 infores:ubergraph knowledge_assertion manual_agent HGNC:12404 MONDO:0010188 NCBIGene:6400 biolink:gene_associated_with_condition MONDO:0976131 infores:ubergraph knowledge_assertion manual_agent HGNC:10717 MONDO:0976131 NCBIGene:2590 biolink:gene_associated_with_condition MONDO:0030043 infores:clingen HGNC:4124 MONDO:0030043 Strong 2024-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8107f647-e731-44f5-ba38-46e648febab1-2024-02-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55670 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55670 MONDO:0700096 No evidence available 0 true NCBIGene:256764 biolink:gene_associated_with_condition MONDO:0013181 infores:clingen NCBIGene:256764 MONDO:0013181 Gene associated with autosomal recessive phenotype 30 NCBIGene:2186 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2186 MONDO:0700096 No evidence available 0 true NCBIGene:4567 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7490 MONDO:0009723 Limited 2021-06-28T15:47:10.419Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efef782a-88db-470d-9687-23629c75e05a-2021-06-28T154710.419Z MT Mitochondrial 0001427 NCBIGene:2184 biolink:gene_associated_with_condition MONDO:0010161 infores:ubergraph knowledge_assertion manual_agent HGNC:3579 MONDO:0010161 NCBIGene:5699 biolink:gene_associated_with_condition MONDO:0971001 infores:clingen HGNC:9538 MONDO:0971001 Limited 2025-07-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28d652d5-6bd7-443b-92dd-051740e2c3dc-2025-07-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:27030 biolink:gene_associated_with_condition MONDO:0013725 infores:ubergraph knowledge_assertion manual_agent HGNC:7128 MONDO:0013725 NCBIGene:3166 biolink:gene_associated_with_condition MONDO:0012802 infores:ubergraph knowledge_assertion manual_agent HGNC:5017 MONDO:0012802 NCBIGene:6884 biolink:gene_associated_with_condition MONDO:0044313 infores:ubergraph knowledge_assertion manual_agent HGNC:11546 MONDO:0044313 NCBIGene:4593 biolink:gene_associated_with_condition MONDO:0014587 infores:ubergraph knowledge_assertion manual_agent HGNC:7525 MONDO:0014587 NCBIGene:10352 biolink:gene_associated_with_condition MONDO:0030676 infores:ubergraph knowledge_assertion manual_agent HGNC:12730 MONDO:0030676 NCBIGene:55812 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55812 MONDO:0700096 No evidence available 0 true NCBIGene:131669 biolink:gene_associated_with_condition MONDO:0010167 infores:clingen HGNC:26444 MONDO:0010167 Moderate 2024-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af2ff293-39ce-46b7-af58-01e3685f4334-2024-04-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7134 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:11943 MONDO:0005045 Definitive 2023-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d832673-8acb-4a02-ae34-35e0d9981b70-2023-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3028 biolink:gene_associated_with_condition MONDO:0010327 infores:clingen HGNC:4800 MONDO:0010327 Definitive 2018-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9232b352-a845-4404-8a98-34cb6ad6ff0e-2018-10-09T160000.000Z XL X-linked 0001417 NCBIGene:5566 biolink:gene_associated_with_condition MONDO:0014359 infores:ubergraph knowledge_assertion manual_agent HGNC:9380 MONDO:0014359 NCBIGene:4261 biolink:gene_associated_with_condition MONDO:0008855 infores:clingen HGNC:7067 MONDO:0008855 Definitive 2022-11-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0dab225e-0bdd-4f96-a351-4e490601ba15-2022-11-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1027 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:1785 MONDO:0018630 Limited 2017-06-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8434 AR Autosomal Recessive 0000007 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0011381 infores:ubergraph knowledge_assertion manual_agent HGNC:4827 MONDO:0011381 NCBIGene:774 biolink:gene_associated_with_condition MONDO:0100516 infores:clingen HGNC:1389 MONDO:0100516 Moderate 2023-08-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df8ed53b-a959-4e5b-a323-7a80b152a98b-2023-08-21T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:2013 biolink:gene_associated_with_condition MONDO:0014373 infores:ubergraph knowledge_assertion manual_agent HGNC:3334 MONDO:0014373 NCBIGene:4351 biolink:gene_associated_with_condition MONDO:0011257 infores:ubergraph knowledge_assertion manual_agent HGNC:7216 MONDO:0011257 NCBIGene:115399 biolink:gene_associated_with_condition MONDO:0032637 infores:ubergraph knowledge_assertion manual_agent HGNC:25430 MONDO:0032637 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0000188 infores:clingen HGNC:11005 MONDO:0000188 Definitive 2019-04-18T12:34:54.696Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a20a0bc0-49d5-41fc-9507-cec19a43bd81-2019-04-18T123454.696Z AD Autosomal Dominant 0000006 NCBIGene:8131 biolink:gene_associated_with_condition MONDO:0005384 infores:clingen NCBIGene:8131 MONDO:0005384 Definitive 2023-08-01T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19a476ce-334f-4727-bbf2-ea4cfa37a223-2023-08-01T190000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6591 biolink:gene_associated_with_condition MONDO:0018094 infores:clingen HGNC:11094 MONDO:0018094 Limited 2024-10-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c01d8d8-40a4-4b11-ad9c-8283bb937c55-2024-10-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10079 biolink:gene_associated_with_condition MONDO:0859377 infores:ubergraph knowledge_assertion manual_agent HGNC:13540 MONDO:0859377 NCBIGene:71 biolink:gene_associated_with_condition MONDO:0011480 infores:ubergraph knowledge_assertion manual_agent HGNC:144 MONDO:0011480 NCBIGene:7879 biolink:gene_associated_with_condition MONDO:0018993 infores:clingen HGNC:9788 MONDO:0018993 Definitive 2022-02-10T02:10:34.172Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222dbfa6-db75-42a0-bab6-338b46a316c3-2022-02-10T021034.172Z AD Autosomal Dominant 0000006 NCBIGene:3561 biolink:gene_associated_with_condition MONDO:0010315 infores:ubergraph knowledge_assertion manual_agent HGNC:6010 MONDO:0010315 NCBIGene:55034 biolink:gene_associated_with_condition MONDO:0011346 infores:ubergraph knowledge_assertion manual_agent HGNC:18234 MONDO:0011346 NCBIGene:2744 biolink:gene_associated_with_condition MONDO:0600001 infores:ubergraph knowledge_assertion manual_agent HGNC:4331 MONDO:0600001 NCBIGene:116449 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:116449 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:60495 biolink:gene_associated_with_condition MONDO:0009368 infores:ubergraph knowledge_assertion manual_agent HGNC:18374 MONDO:0009368 NCBIGene:10283 biolink:gene_associated_with_condition MONDO:0009598 infores:ubergraph knowledge_assertion manual_agent HGNC:10664 MONDO:0009598 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0020667 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0020667 NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0859331 infores:ubergraph knowledge_assertion manual_agent HGNC:18420 MONDO:0859331 NCBIGene:9294 biolink:gene_associated_with_condition MONDO:0012485 infores:ubergraph knowledge_assertion manual_agent HGNC:3169 MONDO:0012485 NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:11949 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fbdfad-b2d2-45f1-9658-e2e3e02cb413-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4878 biolink:gene_associated_with_condition MONDO:0014329 infores:ubergraph knowledge_assertion manual_agent HGNC:7939 MONDO:0014329 NCBIGene:1340 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen NCBIGene:1340 MONDO:0044970 Definitive 2022-03-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc374fc3-050b-4985-9f2f-a2972bb795fe-2022-03-21T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5728 biolink:gene_associated_with_condition MONDO:0017623 infores:clingen NCBIGene:5728 MONDO:0017623 Definitive 2024-04-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e9e89c0-8d1b-4276-bd6f-90c7b7190ffb-2024-04-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0000700 infores:clingen HGNC:10585 MONDO:0000700 Moderate 2021-09-14T16:34:08.306Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8c1e158-983d-4547-a739-7781961e5bb8-2021-09-14T163408.306Z AD Autosomal Dominant 0000006 NCBIGene:4760 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:7762 MONDO:0015967 Limited 2021-10-13T17:06:37.558Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f4e7f54-becc-432e-9827-514c783e6bc1-2021-10-13T170637.558Z AD Autosomal Dominant 0000006 NCBIGene:130589 biolink:gene_associated_with_condition MONDO:0030105 infores:clingen HGNC:24063 MONDO:0030105 Strong 2023-12-19T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21ee674a-b133-46e5-be96-d3533bc6ed61-2023-12-19T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:6638 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6638 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3757 biolink:gene_associated_with_condition MONDO:0012312 infores:ubergraph knowledge_assertion manual_agent HGNC:6251 MONDO:0012312 NCBIGene:7038 biolink:gene_associated_with_condition MONDO:0010135 infores:ubergraph knowledge_assertion manual_agent HGNC:11764 MONDO:0010135 NCBIGene:9896 biolink:gene_associated_with_condition MONDO:0012640 infores:ubergraph knowledge_assertion manual_agent HGNC:16873 MONDO:0012640 NCBIGene:2243 biolink:gene_associated_with_condition MONDO:0018060 infores:clingen HGNC:3661 MONDO:0018060 Definitive 2020-01-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34ded98-dbf7-4dc7-bea4-803db1857bf8-2020-01-22T170000.000Z SD Semidominant 0032113 NCBIGene:10555 biolink:gene_associated_with_condition MONDO:0012071 infores:ubergraph knowledge_assertion manual_agent HGNC:325 MONDO:0012071 NCBIGene:6662 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6662 MONDO:0700096 No evidence available 0 true NCBIGene:2177 biolink:gene_associated_with_condition MONDO:0009214 infores:ubergraph knowledge_assertion manual_agent HGNC:3585 MONDO:0009214 NCBIGene:26115 biolink:gene_associated_with_condition MONDO:0030051 infores:clingen HGNC:30212 MONDO:0030051 Definitive 2022-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3d3d067-5a78-44b4-9c57-25cc784123bf-2022-09-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4524 biolink:gene_associated_with_condition MONDO:0009353 infores:clingen NCBIGene:4524 MONDO:0009353 Definitive 2019-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbfc5297-ed0d-4d7c-bca6-747114ed2b17-2019-06-18T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2317 biolink:gene_associated_with_condition MONDO:0010094 infores:ubergraph knowledge_assertion manual_agent HGNC:3755 MONDO:0010094 NCBIGene:84891 biolink:gene_associated_with_condition MONDO:0975705 infores:ubergraph knowledge_assertion manual_agent HGNC:12997 MONDO:0975705 NCBIGene:51079 biolink:gene_associated_with_condition MONDO:0011836 infores:ubergraph knowledge_assertion manual_agent HGNC:17194 MONDO:0011836 NCBIGene:340990 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:8516 MONDO:0019497 Definitive 2018-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fac4fd4-d674-4017-a9a6-1d6793162c6b-2018-06-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1947 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1947 MONDO:0700096 Little evidence for dosage pathogenicity 1 true NCBIGene:112476 biolink:gene_associated_with_condition MONDO:0100024 infores:clingen NCBIGene:112476 MONDO:0100024 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6297 biolink:gene_associated_with_condition MONDO:0009002 infores:ubergraph knowledge_assertion manual_agent HGNC:10526 MONDO:0009002 NCBIGene:213 biolink:gene_associated_with_condition MONDO:0014449 infores:ubergraph knowledge_assertion manual_agent HGNC:399 MONDO:0014449 NCBIGene:122961 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:19857 MONDO:0044970 Definitive 2023-08-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac2a091c-b7da-4268-b2f4-0fbf9231a5fb-2023-08-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3891 biolink:gene_associated_with_condition MONDO:0011177 infores:ubergraph knowledge_assertion manual_agent HGNC:6462 MONDO:0011177 NCBIGene:5825 biolink:gene_associated_with_condition MONDO:0014564 infores:clingen HGNC:67 MONDO:0014564 Limited 2025-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8d82e6f-8ee8-4944-898b-165916c13cac-2025-07-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5256 biolink:gene_associated_with_condition MONDO:0010598 infores:ubergraph knowledge_assertion manual_agent HGNC:8926 MONDO:0010598 NCBIGene:6813 biolink:gene_associated_with_condition MONDO:0013135 infores:ubergraph knowledge_assertion manual_agent HGNC:11445 MONDO:0013135 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0008150 infores:clingen HGNC:3688 MONDO:0008150 Limited 2021-03-22T20:35:01.315Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d958e743-2ca0-4bb9-a198-364dd58005c3-2021-03-22T203501.315Z AD Autosomal Dominant 0000006 NCBIGene:117581 biolink:gene_associated_with_condition MONDO:0008693 infores:ubergraph knowledge_assertion manual_agent HGNC:20670 MONDO:0008693 NCBIGene:10134 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10134 MONDO:0700096 No evidence available 0 true NCBIGene:9570 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:4431 MONDO:0020074 Definitive 2024-04-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbb3e3b1-2e45-416f-9449-ad36d6233e0d-2024-04-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26525 biolink:gene_associated_with_condition MONDO:0013626 infores:ubergraph knowledge_assertion manual_agent HGNC:15561 MONDO:0013626 NCBIGene:9518 biolink:gene_associated_with_condition MONDO:0958238 infores:ubergraph knowledge_assertion manual_agent HGNC:30142 MONDO:0958238 NCBIGene:7075 biolink:gene_associated_with_condition MONDO:0030316 infores:ubergraph knowledge_assertion manual_agent HGNC:11809 MONDO:0030316 NCBIGene:7021 biolink:gene_associated_with_condition MONDO:0008209 infores:clingen NCBIGene:7021 MONDO:0008209 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9493 biolink:gene_associated_with_condition MONDO:0007109 infores:ubergraph knowledge_assertion manual_agent HGNC:6392 MONDO:0007109 NCBIGene:1993 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:1993 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:51684 biolink:gene_associated_with_condition MONDO:0033309 infores:ubergraph knowledge_assertion manual_agent HGNC:16466 MONDO:0033309 NCBIGene:781 biolink:gene_associated_with_condition MONDO:0859327 infores:ubergraph knowledge_assertion manual_agent HGNC:1399 MONDO:0859327 NCBIGene:11322 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11322 MONDO:0700096 No evidence available 0 true NCBIGene:70 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:143 MONDO:0005021 Moderate 2025-04-25T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e9b4048-3003-4180-b891-fcf10d25a814-2025-04-25T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:5649 biolink:gene_associated_with_condition MONDO:0019450 infores:clingen HGNC:9957 MONDO:0019450 Definitive 2023-12-04T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28da7e7d-fa9c-4f7a-8962-ece6f572adc7-2023-12-04T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:6010 biolink:gene_associated_with_condition MONDO:0012498 infores:ubergraph knowledge_assertion manual_agent HGNC:10012 MONDO:0012498 NCBIGene:8792 biolink:gene_associated_with_condition MONDO:0008275 infores:ubergraph knowledge_assertion manual_agent HGNC:11908 MONDO:0008275 NCBIGene:80210 biolink:gene_associated_with_condition MONDO:0033308 infores:clingen HGNC:20730 MONDO:0033308 Definitive 2023-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77d8b454-195d-463c-b043-fc068392a23b-2023-06-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:140628 biolink:gene_associated_with_condition MONDO:0060663 infores:ubergraph knowledge_assertion manual_agent HGNC:15802 MONDO:0060663 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0011001 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0011001 NCBIGene:1475 biolink:gene_associated_with_condition MONDO:0011937 infores:ubergraph knowledge_assertion manual_agent HGNC:2481 MONDO:0011937 NCBIGene:9247 biolink:gene_associated_with_condition MONDO:0024570 infores:ubergraph knowledge_assertion manual_agent HGNC:4198 MONDO:0024570 NCBIGene:51204 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:24316 MONDO:0044970 Definitive 2024-04-29T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1e50ae4-9de7-4e26-a97d-6f2a77186955-2024-04-29T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:23247 biolink:gene_associated_with_condition MONDO:0014771 infores:ubergraph knowledge_assertion manual_agent HGNC:29068 MONDO:0014771 NCBIGene:10413 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10413 MONDO:0700096 No evidence available 0 true NCBIGene:221496 biolink:gene_associated_with_condition MONDO:0008925 infores:ubergraph knowledge_assertion manual_agent HGNC:21244 MONDO:0008925 NCBIGene:1337 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2277 MONDO:0044970 Strong 2024-03-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a94f65e-5295-4757-bb1e-72f2004725fa-2024-03-18T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5649 biolink:gene_associated_with_condition MONDO:0009760 infores:ubergraph knowledge_assertion manual_agent HGNC:9957 MONDO:0009760 NCBIGene:23495 biolink:gene_associated_with_condition MONDO:0009413 infores:clingen HGNC:18153 MONDO:0009413 Definitive 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3049236b-8132-4dfa-8cda-2a328962a0a4-2021-01-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:122961 biolink:gene_associated_with_condition MONDO:0014611 infores:ubergraph knowledge_assertion manual_agent HGNC:19857 MONDO:0014611 NCBIGene:3972 biolink:gene_associated_with_condition MONDO:0009223 infores:ubergraph knowledge_assertion manual_agent HGNC:6584 MONDO:0009223 NCBIGene:10661 biolink:gene_associated_with_condition MONDO:0013355 infores:ubergraph knowledge_assertion manual_agent HGNC:6345 MONDO:0013355 NCBIGene:3814 biolink:gene_associated_with_condition MONDO:0013915 infores:ubergraph knowledge_assertion manual_agent HGNC:6341 MONDO:0013915 NCBIGene:57520 biolink:gene_associated_with_condition MONDO:0014995 infores:ubergraph knowledge_assertion manual_agent HGNC:29853 MONDO:0014995 NCBIGene:11342 biolink:gene_associated_with_condition MONDO:0034106 infores:ubergraph knowledge_assertion manual_agent HGNC:10057 MONDO:0034106 NCBIGene:58508 biolink:gene_associated_with_condition MONDO:0054701 infores:ubergraph knowledge_assertion manual_agent HGNC:13726 MONDO:0054701 NCBIGene:1137 biolink:gene_associated_with_condition MONDO:0000030 infores:clingen HGNC:1958 MONDO:0000030 Definitive 2020-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3aa0108-5514-48ba-a09c-5506b2030d1f-2020-02-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0054550 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0054550 NCBIGene:3920 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3920 MONDO:0700096 No evidence available 0 true NCBIGene:2581 biolink:gene_associated_with_condition MONDO:0009499 infores:ubergraph knowledge_assertion manual_agent HGNC:4115 MONDO:0009499 NCBIGene:64127 biolink:gene_associated_with_condition MONDO:0008523 infores:ubergraph knowledge_assertion manual_agent HGNC:5331 MONDO:0008523 NCBIGene:2245 biolink:gene_associated_with_condition MONDO:0010589 infores:ubergraph knowledge_assertion manual_agent HGNC:3663 MONDO:0010589 NCBIGene:5251 biolink:gene_associated_with_condition MONDO:0010619 infores:ubergraph knowledge_assertion manual_agent HGNC:8918 MONDO:0010619 NCBIGene:91380 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91380 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5195 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5195 MONDO:0700096 No evidence available 0 true NCBIGene:9897 biolink:gene_associated_with_condition MONDO:0011339 infores:clingen HGNC:28984 MONDO:0011339 Moderate 2024-09-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ef81c5-17e8-4d87-b7ee-627f3f083955-2024-09-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1453 biolink:gene_associated_with_condition MONDO:0014088 infores:ubergraph knowledge_assertion manual_agent HGNC:2452 MONDO:0014088 NCBIGene:10466 biolink:gene_associated_with_condition MONDO:0013325 infores:ubergraph knowledge_assertion manual_agent HGNC:14857 MONDO:0013325 NCBIGene:6491 biolink:gene_associated_with_condition MONDO:0016660 infores:clingen HGNC:10879 MONDO:0016660 Definitive 2023-03-28T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19d81e58-cb01-4cf3-8817-dfa0429150c3-2023-03-28T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:55967 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:23987 MONDO:0009723 Limited 2019-11-25T16:08:15.348Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81f38f43-5e0c-4cb8-9be8-091f2c8a2c71-2019-11-25T160815.348Z AR Autosomal Recessive 0000007 NCBIGene:91252 biolink:gene_associated_with_condition MONDO:0012873 infores:clingen HGNC:20859 MONDO:0012873 Definitive 2024-10-25T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50b48dba-c9ab-4377-b3a2-348c93426aa4-2024-10-25T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:100134444 biolink:gene_associated_with_condition MONDO:0013193 infores:ubergraph knowledge_assertion manual_agent HGNC:39080 MONDO:0013193 NCBIGene:2539 biolink:gene_associated_with_condition MONDO:0005775 infores:clingen HGNC:4057 MONDO:0005775 Definitive 2023-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_153ae203-3ae5-4cb3-bbf8-d72467700d8c-2023-06-23T160000.000Z XL X-linked 0001417 NCBIGene:9896 biolink:gene_associated_with_condition MONDO:0012945 infores:ubergraph knowledge_assertion manual_agent HGNC:16873 MONDO:0012945 NCBIGene:4076 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4076 MONDO:0700096 No evidence available 0 true NCBIGene:2916 biolink:gene_associated_with_condition MONDO:0800397 infores:clingen HGNC:4598 MONDO:0800397 Definitive 2022-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d65aebc-d4af-49ca-9682-9fde5f56bbef-2022-09-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10021 biolink:gene_associated_with_condition MONDO:0008102 infores:ubergraph knowledge_assertion manual_agent HGNC:16882 MONDO:0008102 NCBIGene:23676 biolink:gene_associated_with_condition MONDO:0024771 infores:ubergraph knowledge_assertion manual_agent HGNC:11122 MONDO:0024771 NCBIGene:4728 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7715 MONDO:0044970 Definitive 2023-11-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6764a20-2ddc-4ede-9173-409b0ae18c18-2023-11-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:10102 biolink:gene_associated_with_condition MONDO:0012512 infores:ubergraph knowledge_assertion manual_agent HGNC:12367 MONDO:0012512 NCBIGene:10848 biolink:gene_associated_with_condition MONDO:0957795 infores:clingen HGNC:18838 MONDO:0957795 Definitive 2024-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e5a39d8-c867-4dab-a296-1952fa66b7b0-2024-10-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:54532 biolink:gene_associated_with_condition MONDO:0030503 infores:ubergraph knowledge_assertion manual_agent HGNC:29255 MONDO:0030503 NCBIGene:27010 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27010 MONDO:0700096 No evidence available 0 true NCBIGene:1111 biolink:gene_associated_with_condition MONDO:0957961 infores:ubergraph knowledge_assertion manual_agent HGNC:1925 MONDO:0957961 NCBIGene:26235 biolink:gene_associated_with_condition MONDO:0014198 infores:ubergraph knowledge_assertion manual_agent HGNC:13601 MONDO:0014198 NCBIGene:79415 biolink:gene_associated_with_condition MONDO:0030066 infores:ubergraph knowledge_assertion manual_agent HGNC:28672 MONDO:0030066 NCBIGene:3702 biolink:gene_associated_with_condition MONDO:0013081 infores:clingen HGNC:6171 MONDO:0013081 Definitive 2019-11-21T19:31:48.945Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63552229-5e8c-4a94-b428-ec9a56a0aa5f-2019-11-21T193148.945Z AR Autosomal Recessive 0000007 NCBIGene:2956 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen NCBIGene:2956 MONDO:0005835 Definitive 2023-07-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc6e042d-74ad-42fc-9638-7f53f8bc32f9-2023-07-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6834 biolink:gene_associated_with_condition MONDO:0700250 infores:ubergraph knowledge_assertion manual_agent HGNC:11474 MONDO:0700250 NCBIGene:2651 biolink:gene_associated_with_condition MONDO:0007289 infores:ubergraph knowledge_assertion manual_agent HGNC:4204 MONDO:0007289 NCBIGene:1585 biolink:gene_associated_with_condition MONDO:0011754 infores:clingen HGNC:2592 MONDO:0011754 Definitive 2023-11-16T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a81c6c87-34bc-4ec4-8c31-91d2c9be4095-2023-11-16T013000.000Z AR Autosomal Recessive 0000007 NCBIGene:84631 biolink:gene_associated_with_condition MONDO:0957203 infores:ubergraph knowledge_assertion manual_agent HGNC:13449 MONDO:0957203 NCBIGene:28960 biolink:gene_associated_with_condition MONDO:0014648 infores:ubergraph knowledge_assertion manual_agent HGNC:29812 MONDO:0014648 NCBIGene:1749 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1749 MONDO:0700096 No evidence available 0 true NCBIGene:10235 biolink:gene_associated_with_condition MONDO:0014386 infores:ubergraph knowledge_assertion manual_agent HGNC:9879 MONDO:0014386 NCBIGene:5337 biolink:gene_associated_with_condition MONDO:1010144 infores:ubergraph knowledge_assertion manual_agent HGNC:9067 MONDO:1010144 NCBIGene:3730 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3730 MONDO:0700096 No evidence available 0 true NCBIGene:51371 biolink:gene_associated_with_condition MONDO:0011169 infores:ubergraph knowledge_assertion manual_agent HGNC:20330 MONDO:0011169 NCBIGene:64581 biolink:gene_associated_with_condition MONDO:0013140 infores:ubergraph knowledge_assertion manual_agent HGNC:14558 MONDO:0013140 NCBIGene:79133 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:15899 MONDO:0009723 Definitive 2021-04-09T13:52:36.631Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55a2c102-f05d-4ff1-9527-3a55fb3f00c3-2021-04-09T135236.631Z AR Autosomal Recessive 0000007 NCBIGene:7072 biolink:gene_associated_with_condition MONDO:0030885 infores:ubergraph knowledge_assertion manual_agent HGNC:11802 MONDO:0030885 NCBIGene:8829 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:8004 MONDO:0005453 Limited 2024-03-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d5cd16a-bbd6-4cb0-bdb8-27b8bd4f0948-2024-03-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55775 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55775 MONDO:0700096 No evidence available 0 true NCBIGene:6647 biolink:gene_associated_with_condition MONDO:0032828 infores:ubergraph knowledge_assertion manual_agent HGNC:11179 MONDO:0032828 NCBIGene:7043 biolink:gene_associated_with_condition MONDO:0007152 infores:ubergraph knowledge_assertion manual_agent HGNC:11769 MONDO:0007152 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0859286 infores:ubergraph knowledge_assertion manual_agent HGNC:1390 MONDO:0859286 NCBIGene:5376 biolink:gene_associated_with_condition MONDO:0008087 infores:clingen NCBIGene:5376 MONDO:0008087 Definitive 2024-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7502a7e-2a4e-4b85-8f7c-8d76fe94f294-2024-07-08T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23152 biolink:gene_associated_with_condition MONDO:0030910 infores:ubergraph knowledge_assertion manual_agent HGNC:14214 MONDO:0030910 NCBIGene:23229 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen NCBIGene:23229 MONDO:0100148 Definitive 2024-05-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9305fb2c-6cdf-492d-9dd0-8b03dd4fab1c-2024-05-23T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:860 biolink:gene_associated_with_condition MONDO:0007340 infores:ubergraph knowledge_assertion manual_agent HGNC:10472 MONDO:0007340 NCBIGene:50484 biolink:gene_associated_with_condition MONDO:0013117 infores:ubergraph knowledge_assertion manual_agent HGNC:17296 MONDO:0013117 NCBIGene:51083 biolink:gene_associated_with_condition MONDO:0014650 infores:ubergraph knowledge_assertion manual_agent HGNC:4114 MONDO:0014650 NCBIGene:147409 biolink:gene_associated_with_condition MONDO:0011932 infores:ubergraph knowledge_assertion manual_agent HGNC:21307 MONDO:0011932 NCBIGene:64127 biolink:gene_associated_with_condition MONDO:0009960 infores:ubergraph knowledge_assertion manual_agent HGNC:5331 MONDO:0009960 NCBIGene:58508 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:58508 MONDO:0000508 Definitive 2022-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1dcdd6c-30e0-4d06-8df5-f120b1b02477-2022-03-02T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51524 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:26944 MONDO:0005308 Moderate 2023-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7ebf874-24b0-4566-bc51-8e4dad4b0fb9-2023-04-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2893 biolink:gene_associated_with_condition MONDO:0060641 infores:ubergraph knowledge_assertion manual_agent HGNC:4574 MONDO:0060641 NCBIGene:8864 biolink:gene_associated_with_condition MONDO:0011442 infores:ubergraph knowledge_assertion manual_agent HGNC:8846 MONDO:0011442 NCBIGene:8074 biolink:gene_associated_with_condition MONDO:0060714 infores:ubergraph knowledge_assertion manual_agent HGNC:3680 MONDO:0060714 NCBIGene:5335 biolink:gene_associated_with_condition MONDO:0957790 infores:clingen HGNC:9065 MONDO:0957790 Moderate 2025-11-18T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fb5d9ff-c73f-4362-8e95-fde7f7500595-2025-11-18T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0009734 infores:clingen NCBIGene:6833 MONDO:0009734 Gene associated with autosomal recessive phenotype 30 NCBIGene:64094 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64094 MONDO:0700096 No evidence available 0 true NCBIGene:285195 biolink:gene_associated_with_condition MONDO:0013258 infores:ubergraph knowledge_assertion manual_agent HGNC:20653 MONDO:0013258 NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:6840 MONDO:0009026 Disputed 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d28301c-df25-4c10-9edb-34be26f2838d-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3914 biolink:gene_associated_with_condition MONDO:0009182 infores:ubergraph knowledge_assertion manual_agent HGNC:6490 MONDO:0009182 NCBIGene:2000 biolink:gene_associated_with_condition MONDO:0024770 infores:ubergraph knowledge_assertion manual_agent HGNC:3319 MONDO:0024770 NCBIGene:7532 biolink:gene_associated_with_condition MONDO:0033365 infores:ubergraph knowledge_assertion manual_agent HGNC:12852 MONDO:0033365 NCBIGene:6229 biolink:gene_associated_with_condition MONDO:0015253 infores:clingen HGNC:10411 MONDO:0015253 Definitive 2017-01-19T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3206 AD Autosomal Dominant 0000006 NCBIGene:6576 biolink:gene_associated_with_condition MONDO:0014072 infores:ubergraph knowledge_assertion manual_agent HGNC:10979 MONDO:0014072 NCBIGene:4535 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7455 MONDO:0009723 Definitive 2021-04-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb99c59-15c9-4e19-ba8b-df6cb800c32d-2021-04-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:80232 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80232 MONDO:0700096 No evidence available 0 true NCBIGene:7512 biolink:gene_associated_with_condition MONDO:0100003 infores:ubergraph knowledge_assertion manual_agent HGNC:12823 MONDO:0100003 NCBIGene:70 biolink:gene_associated_with_condition MONDO:0100547 infores:clingen NCBIGene:70 MONDO:0100547 true Little evidence for dosage pathogenicity 1 NCBIGene:53371 biolink:gene_associated_with_condition MONDO:0957385 infores:ubergraph knowledge_assertion manual_agent HGNC:17359 MONDO:0957385 NCBIGene:6092 biolink:gene_associated_with_condition MONDO:0012573 infores:ubergraph knowledge_assertion manual_agent HGNC:10250 MONDO:0012573 NCBIGene:85452 biolink:gene_associated_with_condition MONDO:0859353 infores:clingen HGNC:29368 MONDO:0859353 Moderate 2025-06-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5a065a6-73b9-46ba-89a2-afadedb4b82c-2025-06-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:767 biolink:gene_associated_with_condition MONDO:0013188 infores:ubergraph knowledge_assertion manual_agent HGNC:1382 MONDO:0013188 NCBIGene:79650 biolink:gene_associated_with_condition MONDO:0011405 infores:ubergraph knowledge_assertion manual_agent HGNC:25792 MONDO:0011405 NCBIGene:9757 biolink:gene_associated_with_condition MONDO:0100516 infores:clingen NCBIGene:9757 MONDO:0100516 Definitive 2023-04-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de51a52b-05a3-4429-874f-a38e280ecbaf-2023-04-17T180000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51693 biolink:gene_associated_with_condition MONDO:0032681 infores:ubergraph knowledge_assertion manual_agent HGNC:30887 MONDO:0032681 NCBIGene:6608 biolink:gene_associated_with_condition MONDO:0011134 infores:ubergraph knowledge_assertion manual_agent HGNC:11119 MONDO:0011134 NCBIGene:2972 biolink:gene_associated_with_condition MONDO:0014529 infores:ubergraph knowledge_assertion manual_agent HGNC:11551 MONDO:0014529 NCBIGene:91942 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:28086 MONDO:0044970 Definitive 2023-12-18T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b847632a-2f40-4d6b-a741-b2d1da3d55c5-2023-12-18T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:6559 biolink:gene_associated_with_condition MONDO:0009904 infores:ubergraph knowledge_assertion manual_agent HGNC:10912 MONDO:0009904 NCBIGene:11152 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11152 MONDO:0700096 No evidence available 0 true NCBIGene:2688 biolink:gene_associated_with_condition MONDO:0009876 infores:ubergraph knowledge_assertion manual_agent HGNC:4261 MONDO:0009876 NCBIGene:10059 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:2973 MONDO:0009723 Limited 2021-06-30T14:45:17.300Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a922695-f136-44f8-ab1a-6581e0efafec-2021-06-30T144517.300Z AR Autosomal Recessive 0000007 NCBIGene:26235 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:13601 MONDO:0044970 Definitive 2024-05-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b211e7b2-d93b-4995-ad30-1f4d962867b0-2024-05-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2488 biolink:gene_associated_with_condition MONDO:0009239 infores:ubergraph knowledge_assertion manual_agent HGNC:3964 MONDO:0009239 NCBIGene:1073 biolink:gene_associated_with_condition MONDO:0012538 infores:ubergraph knowledge_assertion manual_agent HGNC:1875 MONDO:0012538 NCBIGene:8452 biolink:gene_associated_with_condition MONDO:0030994 infores:ubergraph knowledge_assertion manual_agent HGNC:2553 MONDO:0030994 NCBIGene:26277 biolink:gene_associated_with_condition MONDO:0013522 infores:clingen HGNC:11824 MONDO:0013522 Definitive 2025-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b32866f2-6fa1-4a63-9624-3588d0811ea7-2025-02-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:19 biolink:gene_associated_with_condition MONDO:0011393 infores:ubergraph knowledge_assertion manual_agent HGNC:29 MONDO:0011393 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0007791 infores:clingen HGNC:1514 MONDO:0007791 Definitive 2023-07-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4cb3c61b-f7eb-4682-94af-5fde40c04e26-2023-07-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:64072 biolink:gene_associated_with_condition MONDO:0011067 infores:ubergraph knowledge_assertion manual_agent HGNC:13733 MONDO:0011067 NCBIGene:4990 biolink:gene_associated_with_condition MONDO:0008927 infores:ubergraph knowledge_assertion manual_agent HGNC:10892 MONDO:0008927 NCBIGene:11190 biolink:gene_associated_with_condition MONDO:0020780 infores:ubergraph knowledge_assertion manual_agent HGNC:1859 MONDO:0020780 NCBIGene:3752 biolink:gene_associated_with_condition MONDO:0014621 infores:ubergraph knowledge_assertion manual_agent HGNC:6239 MONDO:0014621 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7551 MONDO:0005021 Limited 2025-05-16T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f240fb99-f839-4b9b-8e52-f2dc49078886-2025-05-16T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0100606 infores:clingen HGNC:2198 MONDO:0100606 Definitive 2022-11-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25e0c6fa-1b72-4346-b182-0708de2d0420-2022-11-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79639 biolink:gene_associated_with_condition MONDO:0859226 infores:ubergraph knowledge_assertion manual_agent HGNC:26186 MONDO:0859226 NCBIGene:8626 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8626 MONDO:0700096 No evidence available 0 true NCBIGene:81570 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:30664 MONDO:0009723 Limited 2020-11-23T20:10:57.415Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_789c591d-1de7-4652-a0d1-f895b639233e-2020-11-23T201057.415Z AR Autosomal Recessive 0000007 NCBIGene:26353 biolink:gene_associated_with_condition MONDO:0976133 infores:clingen NCBIGene:26353 MONDO:0976133 true No evidence available 0 NCBIGene:146862 biolink:gene_associated_with_condition MONDO:0030927 infores:ubergraph knowledge_assertion manual_agent HGNC:14304 MONDO:0030927 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0012911 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0012911 NCBIGene:148345 biolink:gene_associated_with_condition MONDO:0976135 infores:ubergraph knowledge_assertion manual_agent HGNC:26730 MONDO:0976135 NCBIGene:6584 biolink:gene_associated_with_condition MONDO:0008919 infores:clingen HGNC:10969 MONDO:0008919 Definitive 2018-04-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2beee8a9-193c-41ca-92c4-484c8e034b02-2018-04-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1173 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:564 MONDO:0100038 Definitive 2024-10-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_800ffff6-7cf0-4131-aa96-e3bb4f0bde76-2024-10-01T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:93986 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:93986 MONDO:0700096 No evidence available 0 true NCBIGene:546 biolink:gene_associated_with_condition MONDO:0016980 infores:clingen HGNC:886 MONDO:0016980 Definitive 2021-09-28T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5296ecdf-b709-47bd-9032-daec8b91e300-2021-09-28T220000.000Z XL X-linked 0001417 NCBIGene:51196 biolink:gene_associated_with_condition MONDO:0012546 infores:clingen HGNC:17175 MONDO:0012546 Definitive 2022-04-10T14:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf5e85df-45a3-48dc-8b8d-27228d620412-2022-04-10T143000.000Z AR Autosomal Recessive 0000007 NCBIGene:11011 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:11842 MONDO:0100038 Definitive 2024-06-05T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecd1054d-80b0-4292-a901-65de788b7820-2024-06-05T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:285175 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:285175 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:84068 biolink:gene_associated_with_condition MONDO:0100068 infores:ubergraph knowledge_assertion manual_agent HGNC:23088 MONDO:0100068 NCBIGene:80207 biolink:gene_associated_with_condition MONDO:0008133 infores:ubergraph knowledge_assertion manual_agent HGNC:8142 MONDO:0008133 NCBIGene:5009 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5009 MONDO:0700096 No evidence available 0 true NCBIGene:652 biolink:gene_associated_with_condition MONDO:0011936 infores:clingen NCBIGene:652 MONDO:0011936 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7046 biolink:gene_associated_with_condition MONDO:0018954 infores:clingen HGNC:11772 MONDO:0018954 Definitive 2019-03-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a546ce2-432c-4c8a-90e5-97293d7938be-2019-03-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4733 biolink:gene_associated_with_condition MONDO:0957990 infores:ubergraph knowledge_assertion manual_agent HGNC:3029 MONDO:0957990 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0010611 infores:ubergraph knowledge_assertion manual_agent HGNC:6470 MONDO:0010611 NCBIGene:5396 biolink:gene_associated_with_condition MONDO:0008740 infores:ubergraph knowledge_assertion manual_agent HGNC:9142 MONDO:0008740 NCBIGene:8788 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8788 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:16 biolink:gene_associated_with_condition MONDO:1010132 infores:clingen HGNC:20 MONDO:1010132 Limited 2025-08-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cfbfccc-95a9-4271-b8a2-8b6d2bcc1b27-2025-08-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:83552 biolink:gene_associated_with_condition MONDO:0012605 infores:clingen NCBIGene:83552 MONDO:0012605 Gene associated with autosomal recessive phenotype 30 NCBIGene:4668 biolink:gene_associated_with_condition MONDO:0012221 infores:ubergraph knowledge_assertion manual_agent HGNC:7631 MONDO:0012221 NCBIGene:71 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:144 MONDO:0019497 Definitive 2019-01-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9f5d19-5ebc-4a1a-a4c3-79ff27f69a0e-2019-01-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1292 biolink:gene_associated_with_condition MONDO:0958233 infores:ubergraph knowledge_assertion manual_agent HGNC:2212 MONDO:0958233 NCBIGene:29994 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:963 MONDO:0100038 Limited 2022-10-19T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be8c5c40-5fe7-4247-b1d2-b11ca339b365-2022-10-19T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:10716 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:10716 MONDO:0100038 Definitive 2020-03-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_853c90ef-34a8-4d7d-931d-5fb4add3e4d0-2020-03-25T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3026 biolink:gene_associated_with_condition MONDO:0014682 infores:ubergraph knowledge_assertion manual_agent HGNC:4798 MONDO:0014682 NCBIGene:3145 biolink:gene_associated_with_condition MONDO:0958226 infores:ubergraph knowledge_assertion manual_agent HGNC:4982 MONDO:0958226 NCBIGene:10943 biolink:gene_associated_with_condition MONDO:0026730 infores:clingen NCBIGene:10943 MONDO:0026730 Definitive 2022-01-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f700593e-b7c1-4149-810d-7e71fbea61d0-2022-01-18T170000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:93233 biolink:gene_associated_with_condition MONDO:0014030 infores:ubergraph knowledge_assertion manual_agent HGNC:26560 MONDO:0014030 NCBIGene:5073 biolink:gene_associated_with_condition MONDO:0014612 infores:ubergraph knowledge_assertion manual_agent HGNC:8609 MONDO:0014612 NCBIGene:2109 biolink:gene_associated_with_condition MONDO:0700074 infores:ubergraph knowledge_assertion manual_agent HGNC:3482 MONDO:0700074 NCBIGene:26053 biolink:gene_associated_with_condition MONDO:0014361 infores:clingen NCBIGene:26053 MONDO:0014361 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4613 biolink:gene_associated_with_condition MONDO:0958279 infores:ubergraph knowledge_assertion manual_agent HGNC:7559 MONDO:0958279 NCBIGene:3728 biolink:gene_associated_with_condition MONDO:0011017 infores:ubergraph knowledge_assertion manual_agent HGNC:6207 MONDO:0011017 NCBIGene:57057 biolink:gene_associated_with_condition MONDO:0005267 infores:clingen NCBIGene:57057 MONDO:0005267 Some evidence for dosage pathogenicity 2 NCBIGene:4694 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4694 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7812 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:29905 MONDO:0100038 Definitive 2023-11-21T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7061e9de-d429-4d92-a8fa-e386016ab9db-2023-11-21T110000.000Z AD Autosomal Dominant 0000006 NCBIGene:8694 biolink:gene_associated_with_condition MONDO:0014375 infores:ubergraph knowledge_assertion manual_agent HGNC:2843 MONDO:0014375 NCBIGene:2798 biolink:gene_associated_with_condition MONDO:0007794 infores:ubergraph knowledge_assertion manual_agent HGNC:4421 MONDO:0007794 NCBIGene:3064 biolink:gene_associated_with_condition MONDO:0054573 infores:ubergraph knowledge_assertion manual_agent HGNC:4851 MONDO:0054573 NCBIGene:275 biolink:gene_associated_with_condition MONDO:0958192 infores:ubergraph knowledge_assertion manual_agent HGNC:473 MONDO:0958192 NCBIGene:8915 biolink:gene_associated_with_condition MONDO:0014491 infores:clingen HGNC:989 MONDO:0014491 Definitive 2022-12-29T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2826b3a9-d32b-4d91-8c5d-1a20c408d08d-2022-12-29T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:55325 biolink:gene_associated_with_condition MONDO:0060702 infores:ubergraph knowledge_assertion manual_agent HGNC:25640 MONDO:0060702 NCBIGene:6487 biolink:gene_associated_with_condition MONDO:0014003 infores:ubergraph knowledge_assertion manual_agent HGNC:10866 MONDO:0014003 NCBIGene:79718 biolink:gene_associated_with_condition MONDO:0014842 infores:clingen NCBIGene:79718 MONDO:0014842 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7401 biolink:gene_associated_with_condition MONDO:0010170 infores:clingen NCBIGene:7401 MONDO:0010170 Gene associated with autosomal recessive phenotype 30 NCBIGene:8402 biolink:gene_associated_with_condition MONDO:0032767 infores:ubergraph knowledge_assertion manual_agent HGNC:10981 MONDO:0032767 NCBIGene:8621 biolink:gene_associated_with_condition MONDO:0044302 infores:ubergraph knowledge_assertion manual_agent HGNC:1733 MONDO:0044302 NCBIGene:6559 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6559 MONDO:0700096 No evidence available 0 true NCBIGene:7849 biolink:gene_associated_with_condition MONDO:0018612 infores:clingen NCBIGene:7849 MONDO:0018612 true Little evidence for dosage pathogenicity 1 NCBIGene:115286 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20661 MONDO:0044970 Definitive 2023-07-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e91c575-34b9-4142-8492-5fbbdb95066f-2023-07-31T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6658 biolink:gene_associated_with_condition MONDO:0800474 infores:clingen HGNC:11199 MONDO:0800474 Moderate 2023-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796f4ae7-c817-44d4-935b-babf74a0ce47-2023-08-02T160000.000Z XL X-linked 0001417 NCBIGene:254065 biolink:gene_associated_with_condition MONDO:0010393 infores:ubergraph knowledge_assertion manual_agent HGNC:17342 MONDO:0010393 NCBIGene:91252 biolink:gene_associated_with_condition MONDO:0012873 infores:ubergraph knowledge_assertion manual_agent HGNC:20859 MONDO:0012873 NCBIGene:65084 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:65084 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:84842 biolink:gene_associated_with_condition MONDO:0033613 infores:ubergraph knowledge_assertion manual_agent HGNC:28242 MONDO:0033613 NCBIGene:9439 biolink:gene_associated_with_condition MONDO:0013651 infores:ubergraph knowledge_assertion manual_agent HGNC:2372 MONDO:0013651 NCBIGene:79029 biolink:gene_associated_with_condition MONDO:0030480 infores:clingen HGNC:28762 MONDO:0030480 Limited 2024-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e11de007-664f-4359-830e-fcb94ca09474-2024-02-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:768206 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:768206 MONDO:0700096 No evidence available 0 true NCBIGene:755 biolink:gene_associated_with_condition MONDO:0060507 infores:ubergraph knowledge_assertion manual_agent HGNC:1260 MONDO:0060507 NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0011506 infores:ubergraph knowledge_assertion manual_agent HGNC:29203 MONDO:0011506 NCBIGene:22995 biolink:gene_associated_with_condition MONDO:0013923 infores:ubergraph knowledge_assertion manual_agent HGNC:29298 MONDO:0013923 NCBIGene:7528 biolink:gene_associated_with_condition MONDO:0044738 infores:ubergraph knowledge_assertion manual_agent HGNC:12856 MONDO:0044738 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0009397 infores:clingen HGNC:1514 MONDO:0009397 Definitive 2023-07-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_095b6507-5537-4017-b2b9-28715cc23df7-2023-07-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0100175 infores:ubergraph knowledge_assertion manual_agent HGNC:12403 MONDO:0100175 NCBIGene:80153 biolink:gene_associated_with_condition MONDO:0014649 infores:ubergraph knowledge_assertion manual_agent HGNC:26114 MONDO:0014649 NCBIGene:124512 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:124512 MONDO:0700096 No evidence available 0 true NCBIGene:85366 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:16243 MONDO:0005045 Disputed 2023-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f0f41e3-7b5b-477c-b45d-598b5f8f3df0-2023-02-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:388389 biolink:gene_associated_with_condition MONDO:0013854 infores:ubergraph knowledge_assertion manual_agent HGNC:32700 MONDO:0013854 NCBIGene:23345 biolink:gene_associated_with_condition MONDO:0012549 infores:ubergraph knowledge_assertion manual_agent HGNC:17089 MONDO:0012549 NCBIGene:55904 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55904 MONDO:0700096 No evidence available 0 true NCBIGene:347733 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:347733 MONDO:0700096 No evidence available 0 true NCBIGene:2059 biolink:gene_associated_with_condition MONDO:0014428 infores:clingen NCBIGene:2059 MONDO:0014428 Moderate 2020-02-06T17:16:14.553Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a6bd2bf-8ede-45cb-a1c1-65ee5221b440-2020-02-06T171614.553Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:27235 biolink:gene_associated_with_condition MONDO:0020715 infores:ubergraph knowledge_assertion manual_agent HGNC:25223 MONDO:0020715 NCBIGene:6426 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6426 MONDO:0700096 No evidence available 0 true NCBIGene:55777 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55777 MONDO:0700096 No evidence available 0 true NCBIGene:3242 biolink:gene_associated_with_condition MONDO:0007700 infores:ubergraph knowledge_assertion manual_agent HGNC:5147 MONDO:0007700 NCBIGene:59336 biolink:gene_associated_with_condition MONDO:0859229 infores:ubergraph knowledge_assertion manual_agent HGNC:13998 MONDO:0859229 NCBIGene:59269 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:59269 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:57551 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57551 MONDO:0700096 No evidence available 0 true NCBIGene:83706 biolink:gene_associated_with_condition MONDO:0013016 infores:clingen HGNC:23151 MONDO:0013016 Definitive 2019-08-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df792161-5efb-45f7-91ed-5fe76045fa06-2019-08-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:80331 biolink:gene_associated_with_condition MONDO:0008083 infores:ubergraph knowledge_assertion manual_agent HGNC:16235 MONDO:0008083 NCBIGene:8733 biolink:gene_associated_with_condition MONDO:0060627 infores:clingen HGNC:4446 MONDO:0060627 Strong 2023-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_682c38ac-9075-47ec-96e4-cc2ce7b0838b-2023-03-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1369 biolink:gene_associated_with_condition MONDO:0008910 infores:clingen NCBIGene:1369 MONDO:0008910 Gene associated with autosomal recessive phenotype 30 NCBIGene:7555 biolink:gene_associated_with_condition MONDO:0011266 infores:ubergraph knowledge_assertion manual_agent HGNC:13164 MONDO:0011266 NCBIGene:55157 biolink:gene_associated_with_condition MONDO:0012622 infores:ubergraph knowledge_assertion manual_agent HGNC:25538 MONDO:0012622 NCBIGene:2780 biolink:gene_associated_with_condition MONDO:0800392 infores:ubergraph knowledge_assertion manual_agent HGNC:4394 MONDO:0800392 NCBIGene:8890 biolink:gene_associated_with_condition MONDO:0957872 infores:ubergraph knowledge_assertion manual_agent HGNC:3260 MONDO:0957872 NCBIGene:65080 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:16650 MONDO:0044970 Definitive 2022-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a5d4050-143c-42ed-b3b8-1742fc86bd28-2022-09-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:64221 biolink:gene_associated_with_condition MONDO:0020790 infores:ubergraph knowledge_assertion manual_agent HGNC:13433 MONDO:0020790 NCBIGene:10128 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:15714 MONDO:0009723 Definitive 2019-12-19T19:01:57.942Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79691365-1911-423c-ab14-73a1f509ed22-2019-12-19T190157.942Z AR Autosomal Recessive 0000007 NCBIGene:23414 biolink:gene_associated_with_condition MONDO:0014480 infores:ubergraph knowledge_assertion manual_agent HGNC:16700 MONDO:0014480 NCBIGene:4878 biolink:gene_associated_with_condition MONDO:0012816 infores:ubergraph knowledge_assertion manual_agent HGNC:7939 MONDO:0012816 NCBIGene:8314 biolink:gene_associated_with_condition MONDO:0859230 infores:ubergraph knowledge_assertion manual_agent HGNC:950 MONDO:0859230 NCBIGene:392255 biolink:gene_associated_with_condition MONDO:0013130 infores:ubergraph knowledge_assertion manual_agent HGNC:4221 MONDO:0013130 NCBIGene:191 biolink:gene_associated_with_condition MONDO:0013404 infores:ubergraph knowledge_assertion manual_agent HGNC:343 MONDO:0013404 NCBIGene:79583 biolink:gene_associated_with_condition MONDO:0015369 infores:clingen NCBIGene:79583 MONDO:0015369 Gene associated with autosomal recessive phenotype 30 NCBIGene:84833 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:30889 MONDO:0009723 Moderate 2020-08-27T16:42:52.070Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff19a86d-404a-464e-8da6-8824ce45ed20-2020-08-27T164252.070Z AR Autosomal Recessive 0000007 NCBIGene:498 biolink:gene_associated_with_condition MONDO:0014091 infores:ubergraph knowledge_assertion manual_agent HGNC:823 MONDO:0014091 NCBIGene:55717 biolink:gene_associated_with_condition MONDO:0859373 infores:ubergraph knowledge_assertion manual_agent HGNC:13831 MONDO:0859373 NCBIGene:6898 biolink:gene_associated_with_condition MONDO:0010160 infores:clingen HGNC:11573 MONDO:0010160 Definitive 2020-06-29T17:42:08.705Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a28aa11-78af-4c3b-900e-79c6a1e9339a-2020-06-29T174208.705Z AR Autosomal Recessive 0000007 NCBIGene:113246 biolink:gene_associated_with_condition MONDO:0009033 infores:ubergraph knowledge_assertion manual_agent HGNC:29521 MONDO:0009033 NCBIGene:6491 biolink:gene_associated_with_condition MONDO:0012989 infores:clingen NCBIGene:6491 MONDO:0012989 Gene associated with autosomal recessive phenotype 30 NCBIGene:83550 biolink:gene_associated_with_condition MONDO:0010492 infores:ubergraph knowledge_assertion manual_agent HGNC:14963 MONDO:0010492 NCBIGene:51111 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:51111 MONDO:0100038 Definitive 2022-04-08T07:23:51.945Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_885d56b0-a2b0-4a3d-9f11-4034298e074e-2022-04-08T072351.945Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1641 biolink:gene_associated_with_condition MONDO:0010239 infores:clingen NCBIGene:1641 MONDO:0010239 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4914 biolink:gene_associated_with_condition MONDO:0009746 infores:clingen HGNC:8031 MONDO:0009746 Definitive 2021-11-17T03:09:55.951Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e716345f-08da-4a06-b3e1-d07974a4305d-2021-11-17T030955.951Z AR Autosomal Recessive 0000007 NCBIGene:6926 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6926 MONDO:0700096 No evidence available 0 true NCBIGene:4513 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7421 MONDO:0044970 Definitive 2023-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8665d7c-6fca-44ba-9c37-d6e530ca263b-2023-07-11T160000.000Z MT Mitochondrial 0001427 NCBIGene:50801 biolink:gene_associated_with_condition MONDO:0032714 infores:ubergraph knowledge_assertion manual_agent HGNC:6279 MONDO:0032714 NCBIGene:80067 biolink:gene_associated_with_condition MONDO:0009419 infores:ubergraph knowledge_assertion manual_agent HGNC:25784 MONDO:0009419 NCBIGene:58494 biolink:gene_associated_with_condition MONDO:0032938 infores:ubergraph knowledge_assertion manual_agent HGNC:14686 MONDO:0032938 NCBIGene:79650 biolink:gene_associated_with_condition MONDO:0011405 infores:clingen NCBIGene:79650 MONDO:0011405 Gene associated with autosomal recessive phenotype 30 NCBIGene:10049 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10049 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4359 biolink:gene_associated_with_condition MONDO:0011909 infores:ubergraph knowledge_assertion manual_agent HGNC:7225 MONDO:0011909 NCBIGene:84896 biolink:gene_associated_with_condition MONDO:0044330 infores:ubergraph knowledge_assertion manual_agent HGNC:25903 MONDO:0044330 NCBIGene:440138 biolink:gene_associated_with_condition MONDO:0013349 infores:clingen HGNC:32456 MONDO:0013349 Moderate 2023-06-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a818528-da84-4204-baf0-88bb0ae5696e-2023-06-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1643 biolink:gene_associated_with_condition MONDO:0010213 infores:ubergraph knowledge_assertion manual_agent HGNC:2718 MONDO:0010213 NCBIGene:22917 biolink:gene_associated_with_condition MONDO:0014342 infores:ubergraph knowledge_assertion manual_agent HGNC:13187 MONDO:0014342 NCBIGene:2624 biolink:gene_associated_with_condition MONDO:0013540 infores:ubergraph knowledge_assertion manual_agent HGNC:4171 MONDO:0013540 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0013513 infores:ubergraph knowledge_assertion manual_agent HGNC:6263 MONDO:0013513 NCBIGene:2530 biolink:gene_associated_with_condition MONDO:0020775 infores:ubergraph knowledge_assertion manual_agent HGNC:4019 MONDO:0020775 NCBIGene:1621 biolink:gene_associated_with_condition MONDO:0009123 infores:ubergraph knowledge_assertion manual_agent HGNC:2689 MONDO:0009123 NCBIGene:90416 biolink:gene_associated_with_condition MONDO:0030873 infores:ubergraph knowledge_assertion manual_agent HGNC:28295 MONDO:0030873 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0859192 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0859192 NCBIGene:84920 biolink:gene_associated_with_condition MONDO:0100589 infores:ubergraph knowledge_assertion manual_agent HGNC:23162 MONDO:0100589 NCBIGene:7187 biolink:gene_associated_with_condition MONDO:0100513 infores:ubergraph knowledge_assertion manual_agent HGNC:12033 MONDO:0100513 NCBIGene:3273 biolink:gene_associated_with_condition MONDO:0013143 infores:ubergraph knowledge_assertion manual_agent HGNC:5181 MONDO:0013143 NCBIGene:7156 biolink:gene_associated_with_condition MONDO:0020845 infores:ubergraph knowledge_assertion manual_agent HGNC:11992 MONDO:0020845 NCBIGene:92749 biolink:gene_associated_with_condition MONDO:0014123 infores:ubergraph knowledge_assertion manual_agent HGNC:24245 MONDO:0014123 NCBIGene:9990 biolink:gene_associated_with_condition MONDO:0031068 infores:ubergraph knowledge_assertion manual_agent HGNC:10914 MONDO:0031068 NCBIGene:2318 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2318 MONDO:0700096 No evidence available 0 true NCBIGene:1595 biolink:gene_associated_with_condition MONDO:0033853 infores:ubergraph knowledge_assertion manual_agent HGNC:2649 MONDO:0033853 NCBIGene:7026 biolink:gene_associated_with_condition MONDO:0800458 infores:clingen HGNC:7976 MONDO:0800458 Definitive 2023-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bac9024-04eb-4cea-8886-3181c948e54b-2023-08-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:139818 biolink:gene_associated_with_condition MONDO:0957494 infores:clingen HGNC:23483 MONDO:0957494 Strong 2025-08-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4355c917-09ad-428b-a2d5-2a6a1b609dd6-2025-08-19T160000.000Z XL X-linked 0001417 NCBIGene:4166 biolink:gene_associated_with_condition MONDO:0009020 infores:clingen NCBIGene:4166 MONDO:0009020 Gene associated with autosomal recessive phenotype 30 NCBIGene:387119 biolink:gene_associated_with_condition MONDO:0030031 infores:clingen HGNC:21638 MONDO:0030031 Definitive 2024-09-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30a3191e-5ee3-467c-afa1-27fada71f9ea-2024-09-24T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:990 biolink:gene_associated_with_condition MONDO:0013432 infores:ubergraph knowledge_assertion manual_agent HGNC:1744 MONDO:0013432 NCBIGene:57122 biolink:gene_associated_with_condition MONDO:0032692 infores:ubergraph knowledge_assertion manual_agent HGNC:29914 MONDO:0032692 NCBIGene:9646 biolink:gene_associated_with_condition MONDO:1040006 infores:ubergraph knowledge_assertion manual_agent HGNC:16850 MONDO:1040006 NCBIGene:486 biolink:gene_associated_with_condition MONDO:0007937 infores:ubergraph knowledge_assertion manual_agent HGNC:4026 MONDO:0007937 NCBIGene:5580 biolink:gene_associated_with_condition MONDO:0007915 infores:clingen HGNC:9399 MONDO:0007915 Definitive 2024-10-11T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_842fc2a6-9c37-47f1-8c38-bacb3880d31a-2024-10-11T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:5145 biolink:gene_associated_with_condition MONDO:0700224 infores:clingen HGNC:8785 MONDO:0700224 Definitive 2022-12-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_165bc0fc-d0ce-4a74-a953-8d4687fbaa96-2022-12-01T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:27249 biolink:gene_associated_with_condition MONDO:0700298 infores:ubergraph knowledge_assertion manual_agent HGNC:25221 MONDO:0700298 NCBIGene:5626 biolink:gene_associated_with_condition MONDO:0009878 infores:ubergraph knowledge_assertion manual_agent HGNC:9455 MONDO:0009878 NCBIGene:5962 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5962 MONDO:0700096 No evidence available 0 true NCBIGene:271 biolink:gene_associated_with_condition MONDO:0014305 infores:ubergraph knowledge_assertion manual_agent HGNC:469 MONDO:0014305 NCBIGene:4693 biolink:gene_associated_with_condition MONDO:0010588 infores:ubergraph knowledge_assertion manual_agent HGNC:7678 MONDO:0010588 NCBIGene:7922 biolink:gene_associated_with_condition MONDO:0015977 infores:clingen HGNC:4927 MONDO:0015977 Moderate 2021-09-21T13:06:38.465Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69ebdc60-2bdd-4020-9d20-7c0ea0fd3cdd-2021-09-21T130638.465Z AR Autosomal Recessive 0000007 NCBIGene:132158 biolink:gene_associated_with_condition MONDO:0009070 infores:ubergraph knowledge_assertion manual_agent HGNC:24247 MONDO:0009070 NCBIGene:286 biolink:gene_associated_with_condition MONDO:0019350 infores:clingen HGNC:492 MONDO:0019350 Limited 2021-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55457b0b-370e-466d-b2da-1cb8d67aecc8-2021-06-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:87178 biolink:gene_associated_with_condition MONDO:0013977 infores:ubergraph knowledge_assertion manual_agent HGNC:23166 MONDO:0013977 NCBIGene:9563 biolink:gene_associated_with_condition MONDO:0011503 infores:ubergraph knowledge_assertion manual_agent HGNC:4795 MONDO:0011503 NCBIGene:8722 biolink:gene_associated_with_condition MONDO:0014147 infores:ubergraph knowledge_assertion manual_agent HGNC:2531 MONDO:0014147 NCBIGene:4647 biolink:gene_associated_with_condition MONDO:0010168 infores:clingen HGNC:7606 MONDO:0010168 Definitive 2018-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e897a2f-d4cf-4e13-85d8-f37405a09b18-2018-06-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:285175 biolink:gene_associated_with_condition MONDO:0014777 infores:ubergraph knowledge_assertion manual_agent HGNC:26582 MONDO:0014777 NCBIGene:57479 biolink:gene_associated_with_condition MONDO:0971007 infores:ubergraph knowledge_assertion manual_agent HGNC:29217 MONDO:0971007 NCBIGene:249 biolink:gene_associated_with_condition MONDO:0100609 infores:clingen HGNC:438 MONDO:0100609 Definitive 2021-01-19T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_897ed4ed-89b5-4e4d-8580-db5721ed6696-2021-01-19T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:171019 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:17111 MONDO:0005453 Limited 2024-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b850ff44-cec0-4afd-a3d8-0779b336f972-2024-07-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10297 biolink:gene_associated_with_condition MONDO:0014951 infores:ubergraph knowledge_assertion manual_agent HGNC:24036 MONDO:0014951 NCBIGene:415 biolink:gene_associated_with_condition MONDO:0010555 infores:ubergraph knowledge_assertion manual_agent HGNC:719 MONDO:0010555 NCBIGene:10516 biolink:gene_associated_with_condition MONDO:0012145 infores:ubergraph knowledge_assertion manual_agent HGNC:3602 MONDO:0012145 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0012849 infores:ubergraph knowledge_assertion manual_agent HGNC:29253 MONDO:0012849 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0008426 infores:clingen HGNC:3603 MONDO:0008426 Disputed 2021-11-30T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42caf14d-6400-475b-88f3-a8a24a0832c0-2021-11-30T230000.000Z AD Autosomal Dominant 0000006 NCBIGene:1147 biolink:gene_associated_with_condition MONDO:0859154 infores:clingen HGNC:1974 MONDO:0859154 Moderate 2024-06-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c75e589b-683e-4b4f-b2f5-59e1eadf42d1-2024-06-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:58508 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:58508 MONDO:0700096 No evidence available 0 true NCBIGene:9211 biolink:gene_associated_with_condition MONDO:0700090 infores:ubergraph knowledge_assertion manual_agent HGNC:6572 MONDO:0700090 NCBIGene:11280 biolink:gene_associated_with_condition MONDO:0014247 infores:ubergraph knowledge_assertion manual_agent HGNC:10583 MONDO:0014247 NCBIGene:5903 biolink:gene_associated_with_condition MONDO:0011953 infores:ubergraph knowledge_assertion manual_agent HGNC:9848 MONDO:0011953 NCBIGene:11041 biolink:gene_associated_with_condition MONDO:0014120 infores:clingen HGNC:15685 MONDO:0014120 Moderate 2025-07-08T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fdad7b1-d881-4d7c-a9ab-34812a92ae24-2025-07-08T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:55897 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:29658 MONDO:0005453 Moderate 2024-09-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e86e873-749f-4d44-a1c8-d28405d7dace-2024-09-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7846 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7846 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:11160 biolink:gene_associated_with_condition MONDO:0012639 infores:clingen HGNC:1356 MONDO:0012639 Limited 2025-06-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1467b8b6-6295-4fa8-bafc-86478e6ffd19-2025-06-18T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:10565 biolink:gene_associated_with_condition MONDO:0859263 infores:ubergraph knowledge_assertion manual_agent HGNC:15772 MONDO:0859263 NCBIGene:10300 biolink:gene_associated_with_condition MONDO:0014534 infores:ubergraph knowledge_assertion manual_agent HGNC:6217 MONDO:0014534 NCBIGene:2657 biolink:gene_associated_with_condition MONDO:0008832 infores:ubergraph knowledge_assertion manual_agent HGNC:4214 MONDO:0008832 NCBIGene:9719 biolink:gene_associated_with_condition MONDO:0009269 infores:clingen NCBIGene:9719 MONDO:0009269 Gene associated with autosomal recessive phenotype 30 NCBIGene:55130 biolink:gene_associated_with_condition MONDO:0014193 infores:ubergraph knowledge_assertion manual_agent HGNC:25583 MONDO:0014193 NCBIGene:9562 biolink:gene_associated_with_condition MONDO:0030438 infores:ubergraph knowledge_assertion manual_agent HGNC:7102 MONDO:0030438 NCBIGene:92211 biolink:gene_associated_with_condition MONDO:0013348 infores:clingen NCBIGene:92211 MONDO:0013348 Gene associated with autosomal recessive phenotype 30 NCBIGene:4976 biolink:gene_associated_with_condition MONDO:0014820 infores:ubergraph knowledge_assertion manual_agent HGNC:8140 MONDO:0014820 NCBIGene:1340 biolink:gene_associated_with_condition MONDO:0033637 infores:ubergraph knowledge_assertion manual_agent HGNC:2280 MONDO:0033637 NCBIGene:5324 biolink:gene_associated_with_condition MONDO:0030118 infores:ubergraph knowledge_assertion manual_agent HGNC:9045 MONDO:0030118 NCBIGene:6598 biolink:gene_associated_with_condition MONDO:0012252 infores:ubergraph knowledge_assertion manual_agent HGNC:11103 MONDO:0012252 NCBIGene:1024 biolink:gene_associated_with_condition MONDO:0032897 infores:ubergraph knowledge_assertion manual_agent HGNC:1779 MONDO:0032897 NCBIGene:51218 biolink:gene_associated_with_condition MONDO:0014804 infores:ubergraph knowledge_assertion manual_agent HGNC:20134 MONDO:0014804 NCBIGene:65057 biolink:gene_associated_with_condition MONDO:0800469 infores:ubergraph knowledge_assertion manual_agent HGNC:25070 MONDO:0800469 NCBIGene:5837 biolink:gene_associated_with_condition MONDO:0009293 infores:clingen HGNC:9726 MONDO:0009293 Definitive 2025-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_768b5cdf-cceb-4789-bd07-f96eab0c7b1a-2025-02-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:152110 biolink:gene_associated_with_condition MONDO:0032914 infores:ubergraph knowledge_assertion manual_agent HGNC:18592 MONDO:0032914 NCBIGene:10133 biolink:gene_associated_with_condition MONDO:0100553 infores:ubergraph knowledge_assertion manual_agent HGNC:17142 MONDO:0100553 NCBIGene:127833 biolink:gene_associated_with_condition MONDO:0014468 infores:clingen HGNC:11510 MONDO:0014468 Moderate 2023-07-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8871e1-5eed-4414-8137-432d57f328d1-2023-07-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26235 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:13601 MONDO:0009723 Definitive 2020-11-23T19:31:17.246Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fed67104-182c-48f2-85c0-ecb05cd6dd72-2020-11-23T193117.246Z AR Autosomal Recessive 0000007 NCBIGene:1289 biolink:gene_associated_with_condition MONDO:0007522 infores:clingen HGNC:2209 MONDO:0007522 Definitive 2021-03-24T15:13:31.225Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3133eacb-2ef9-4463-8031-11d10f0e91b9-2021-03-24T151331.225Z AD Autosomal Dominant 0000006 NCBIGene:5925 biolink:gene_associated_with_condition MONDO:0008380 infores:clingen NCBIGene:5925 MONDO:0008380 Definitive 2020-07-30T21:39:29.219Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8c79621-7ace-4c0c-874e-a315a2e6c872-2020-07-30T213929.219Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:747 biolink:gene_associated_with_condition MONDO:0008206 infores:ubergraph knowledge_assertion manual_agent HGNC:1165 MONDO:0008206 NCBIGene:7204 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:12303 MONDO:0000508 Definitive 2021-11-18T19:20:46.961Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff3b6c9b-4c51-4414-b92c-20e45758ab61-2021-11-18T192046.961Z AD Autosomal Dominant 0000006 NCBIGene:5083 biolink:gene_associated_with_condition MONDO:0011477 infores:clingen NCBIGene:5083 MONDO:0011477 Definitive 2025-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d09376b-6dac-4175-a048-c1829e75a5ae-2025-04-17T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8526 biolink:gene_associated_with_condition MONDO:0100590 infores:ubergraph knowledge_assertion manual_agent HGNC:2852 MONDO:0100590 NCBIGene:6855 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6855 MONDO:0700096 No evidence available 0 true NCBIGene:2592 biolink:gene_associated_with_condition MONDO:0009258 infores:clingen NCBIGene:2592 MONDO:0009258 Gene associated with autosomal recessive phenotype 30 NCBIGene:2271 biolink:gene_associated_with_condition MONDO:0011730 infores:ubergraph knowledge_assertion manual_agent HGNC:3700 MONDO:0011730 NCBIGene:9757 biolink:gene_associated_with_condition MONDO:0030969 infores:ubergraph knowledge_assertion manual_agent HGNC:15840 MONDO:0030969 NCBIGene:3832 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3832 MONDO:0700096 No evidence available 0 true NCBIGene:7703 biolink:gene_associated_with_condition MONDO:0032707 infores:clingen HGNC:12929 MONDO:0032707 Strong 2022-04-08T07:42:29.379Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58b289b7-f842-4a32-a1fa-2777455fbd27-2022-04-08T074229.379Z AD Autosomal Dominant 0000006 NCBIGene:51095 biolink:gene_associated_with_condition MONDO:0014487 infores:clingen HGNC:17341 MONDO:0014487 Definitive 2022-10-30T12:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6df64a62-650c-4659-b2e8-ee51263fcdbc-2022-10-30T120000.000Z AR Autosomal Recessive 0000007 NCBIGene:8930 biolink:gene_associated_with_condition MONDO:0859267 infores:ubergraph knowledge_assertion manual_agent HGNC:6919 MONDO:0859267 NCBIGene:5255 biolink:gene_associated_with_condition MONDO:0010362 infores:clingen HGNC:8925 MONDO:0010362 Definitive 2025-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_acc3fc43-7f42-481e-957a-b10fd10df3d5-2025-01-10T170000.000Z XL X-linked 0001417 NCBIGene:55340 biolink:gene_associated_with_condition MONDO:0030397 infores:ubergraph knowledge_assertion manual_agent HGNC:18005 MONDO:0030397 NCBIGene:389549 biolink:gene_associated_with_condition MONDO:0014461 infores:ubergraph knowledge_assertion manual_agent HGNC:22788 MONDO:0014461 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0012833 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0012833 NCBIGene:79731 biolink:gene_associated_with_condition MONDO:0014547 infores:ubergraph knowledge_assertion manual_agent HGNC:26274 MONDO:0014547 NCBIGene:89884 biolink:gene_associated_with_condition MONDO:0009880 infores:ubergraph knowledge_assertion manual_agent HGNC:21734 MONDO:0009880 NCBIGene:2009 biolink:gene_associated_with_condition MONDO:0010873 infores:clingen HGNC:3330 MONDO:0010873 Definitive 2025-05-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3938ad35-9bf2-4b80-b910-05a2a1e6b6bf-2025-05-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:147138 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:147138 MONDO:0700096 No evidence available 0 true NCBIGene:1234 biolink:gene_associated_with_condition MONDO:0012482 infores:ubergraph knowledge_assertion manual_agent HGNC:1606 MONDO:0012482 NCBIGene:4125 biolink:gene_associated_with_condition MONDO:0009561 infores:clingen NCBIGene:4125 MONDO:0009561 Definitive 2022-09-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef3b8e84-1f36-4aae-b167-b50dd074bf2b-2022-09-02T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0012912 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0012912 NCBIGene:1906 biolink:gene_associated_with_condition MONDO:0013013 infores:ubergraph knowledge_assertion manual_agent HGNC:3176 MONDO:0013013 NCBIGene:1106 biolink:gene_associated_with_condition MONDO:0014150 infores:clingen NCBIGene:1106 MONDO:0014150 Sufficient evidence for dosage pathogenicity 3 NCBIGene:112476 biolink:gene_associated_with_condition MONDO:0011178 infores:clingen HGNC:30500 MONDO:0011178 Definitive 2020-01-21T21:38:14.191Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62af25b8-b9a4-421f-b897-4fc222569618-2020-01-21T213814.191Z AD Autosomal Dominant 0000006 NCBIGene:84668 biolink:gene_associated_with_condition MONDO:0012514 infores:ubergraph knowledge_assertion manual_agent HGNC:24587 MONDO:0012514 NCBIGene:6622 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:11138 MONDO:0005180 Definitive 2022-05-03T13:49:31.425Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d21593ae-ed10-4442-8167-24f96f917302-2022-05-03T134931.425Z AD Autosomal Dominant 0000006 NCBIGene:152137 biolink:gene_associated_with_condition MONDO:0011832 infores:ubergraph knowledge_assertion manual_agent HGNC:18111 MONDO:0011832 NCBIGene:6311 biolink:gene_associated_with_condition MONDO:0008458 infores:clingen HGNC:10555 MONDO:0008458 Definitive 2024-02-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5f9701f-a9a7-4689-9aec-27b3cbb06129-2024-02-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10117 biolink:gene_associated_with_condition MONDO:0008770 infores:ubergraph knowledge_assertion manual_agent HGNC:3344 MONDO:0008770 NCBIGene:26092 biolink:gene_associated_with_condition MONDO:0100591 infores:clingen HGNC:29456 MONDO:0100591 Definitive 2025-04-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bf2ae25-0135-4f34-9623-87cfd4890827-2025-04-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8891 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen NCBIGene:8891 MONDO:0800439 Gene associated with autosomal recessive phenotype 30 NCBIGene:162514 biolink:gene_associated_with_condition MONDO:0014622 infores:ubergraph knowledge_assertion manual_agent HGNC:18084 MONDO:0014622 NCBIGene:80821 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80821 MONDO:0700096 No evidence available 0 true NCBIGene:6792 biolink:gene_associated_with_condition MONDO:0100039 infores:ubergraph knowledge_assertion manual_agent HGNC:11411 MONDO:0100039 NCBIGene:84138 biolink:gene_associated_with_condition MONDO:0030936 infores:ubergraph knowledge_assertion manual_agent HGNC:25807 MONDO:0030936 NCBIGene:10555 biolink:gene_associated_with_condition MONDO:0012071 infores:clingen NCBIGene:10555 MONDO:0012071 Gene associated with autosomal recessive phenotype 30 NCBIGene:6305 biolink:gene_associated_with_condition MONDO:0014117 infores:ubergraph knowledge_assertion manual_agent HGNC:10542 MONDO:0014117 NCBIGene:8565 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen NCBIGene:8565 MONDO:0015626 Definitive 2020-04-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c326f90-be08-4bb3-9593-b2df48f29ca1-2020-04-28T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:9968 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9968 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5744 biolink:gene_associated_with_condition MONDO:0023599 infores:clingen NCBIGene:5744 MONDO:0023599 Little evidence for dosage pathogenicity 1 true NCBIGene:3172 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3172 MONDO:0700096 No evidence available 0 true NCBIGene:63982 biolink:gene_associated_with_condition MONDO:0014019 infores:ubergraph knowledge_assertion manual_agent HGNC:14004 MONDO:0014019 NCBIGene:1174 biolink:gene_associated_with_condition MONDO:0012251 infores:ubergraph knowledge_assertion manual_agent HGNC:559 MONDO:0012251 NCBIGene:861 biolink:gene_associated_with_condition MONDO:0100083 infores:ubergraph knowledge_assertion manual_agent HGNC:10471 MONDO:0100083 NCBIGene:4555 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7478 MONDO:0044970 Moderate 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_620f9725-7a33-4b55-99bc-3d32d9e8ff63-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:23007 biolink:gene_associated_with_condition MONDO:0030886 infores:ubergraph knowledge_assertion manual_agent HGNC:29185 MONDO:0030886 NCBIGene:2643 biolink:gene_associated_with_condition MONDO:0100184 infores:ubergraph knowledge_assertion manual_agent HGNC:4193 MONDO:0100184 NCBIGene:3909 biolink:gene_associated_with_condition MONDO:0009513 infores:ubergraph knowledge_assertion manual_agent HGNC:6483 MONDO:0009513 NCBIGene:10216 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10216 MONDO:0700096 No evidence available 0 true NCBIGene:63901 biolink:gene_associated_with_condition MONDO:0011215 infores:ubergraph knowledge_assertion manual_agent HGNC:24725 MONDO:0011215 NCBIGene:10092 biolink:gene_associated_with_condition MONDO:0957920 infores:ubergraph knowledge_assertion manual_agent HGNC:708 MONDO:0957920 NCBIGene:6091 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6091 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:64145 biolink:gene_associated_with_condition MONDO:0975797 infores:ubergraph knowledge_assertion manual_agent HGNC:20759 MONDO:0975797 NCBIGene:79947 biolink:gene_associated_with_condition MONDO:1010097 infores:ubergraph knowledge_assertion manual_agent HGNC:20603 MONDO:1010097 NCBIGene:286262 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:286262 MONDO:0700096 No evidence available 0 true NCBIGene:1351 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:2294 MONDO:0009723 Limited 2021-04-09T13:55:10.592Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70763eb9-40f7-4f71-a64b-ab0c6ad536b0-2021-04-09T135510.592Z AR Autosomal Recessive 0000007 NCBIGene:3658 biolink:gene_associated_with_condition MONDO:0032758 infores:ubergraph knowledge_assertion manual_agent HGNC:6115 MONDO:0032758 NCBIGene:959 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:959 MONDO:0700096 No evidence available 0 true NCBIGene:146206 biolink:gene_associated_with_condition MONDO:0029134 infores:clingen HGNC:27089 MONDO:0029134 Definitive 2024-03-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0055cbc0-64df-4f38-9074-495f4ac74e1c-2024-03-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23394 biolink:gene_associated_with_condition MONDO:0014379 infores:ubergraph knowledge_assertion manual_agent HGNC:15766 MONDO:0014379 NCBIGene:6102 biolink:gene_associated_with_condition MONDO:0100442 infores:ubergraph knowledge_assertion manual_agent HGNC:10274 MONDO:0100442 NCBIGene:91179 biolink:gene_associated_with_condition MONDO:0010959 infores:clingen NCBIGene:91179 MONDO:0010959 Gene associated with autosomal recessive phenotype 30 NCBIGene:5447 biolink:gene_associated_with_condition MONDO:0013310 infores:ubergraph knowledge_assertion manual_agent HGNC:9208 MONDO:0013310 NCBIGene:144132 biolink:gene_associated_with_condition MONDO:0030531 infores:ubergraph knowledge_assertion manual_agent HGNC:26532 MONDO:0030531 NCBIGene:204 biolink:gene_associated_with_condition MONDO:0009973 infores:clingen HGNC:362 MONDO:0009973 Definitive 2021-05-20T15:02:57.066Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba98528-8032-4dd4-bd1d-5381b102323c-2021-05-20T150257.066Z AR Autosomal Recessive 0000007 NCBIGene:6647 biolink:gene_associated_with_condition MONDO:0007103 infores:clingen HGNC:11179 MONDO:0007103 Definitive 2021-07-13T19:22:26.690Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97d17778-d21e-441f-b4b7-49eccaa8cbab-2021-07-13T192226.690Z AD Autosomal Dominant 0000006 NCBIGene:55154 biolink:gene_associated_with_condition MONDO:0044714 infores:ubergraph knowledge_assertion manual_agent HGNC:29678 MONDO:0044714 NCBIGene:57498 biolink:gene_associated_with_condition MONDO:0015007 infores:ubergraph knowledge_assertion manual_agent HGNC:29508 MONDO:0015007 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen NCBIGene:3784 MONDO:0002442 Definitive 2018-09-25T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dff8874e-98a1-472b-9cc2-3f441b1c1064-2018-09-25T040000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51293 biolink:gene_associated_with_condition MONDO:0013341 infores:ubergraph knowledge_assertion manual_agent HGNC:16692 MONDO:0013341 NCBIGene:5328 biolink:gene_associated_with_condition MONDO:0011136 infores:ubergraph knowledge_assertion manual_agent HGNC:9052 MONDO:0011136 NCBIGene:5346 biolink:gene_associated_with_condition MONDO:0013478 infores:clingen HGNC:9076 MONDO:0013478 Definitive 2025-09-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcba327c-dc89-4e78-ae7b-84b23db5429e-2025-09-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2533 biolink:gene_associated_with_condition MONDO:0010120 infores:ubergraph knowledge_assertion manual_agent HGNC:4036 MONDO:0010120 NCBIGene:5244 biolink:gene_associated_with_condition MONDO:0010939 infores:clingen NCBIGene:5244 MONDO:0010939 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0030797 infores:ubergraph knowledge_assertion manual_agent HGNC:29253 MONDO:0030797 NCBIGene:1001 biolink:gene_associated_with_condition MONDO:0011107 infores:ubergraph knowledge_assertion manual_agent HGNC:1762 MONDO:0011107 NCBIGene:50944 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:50944 MONDO:0700096 No evidence available 0 true NCBIGene:6664 biolink:gene_associated_with_condition MONDO:0014376 infores:clingen NCBIGene:6664 MONDO:0014376 Sufficient evidence for dosage pathogenicity 3 NCBIGene:50617 biolink:gene_associated_with_condition MONDO:0011268 infores:ubergraph knowledge_assertion manual_agent HGNC:866 MONDO:0011268 NCBIGene:4123 biolink:gene_associated_with_condition MONDO:0030770 infores:clingen HGNC:6827 MONDO:0030770 Moderate 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45ab2f0c-af56-4fc0-8430-22d86e5bd8a3-2024-11-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0007723 infores:ubergraph knowledge_assertion manual_agent HGNC:9967 MONDO:0007723 NCBIGene:5279 biolink:gene_associated_with_condition MONDO:0040500 infores:ubergraph knowledge_assertion manual_agent HGNC:8960 MONDO:0040500 NCBIGene:2815 biolink:gene_associated_with_condition MONDO:0009276 infores:clingen HGNC:4444 MONDO:0009276 Definitive 2019-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af66eb15-10fe-4c2b-bff2-b8c8bf813174-2019-11-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55770 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:24968 MONDO:0100038 Limited 2024-08-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8813a496-aad3-4854-83de-8c935d07ad44-2024-08-01T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3000 biolink:gene_associated_with_condition MONDO:0100453 infores:clingen HGNC:4689 MONDO:0100453 Definitive 2022-03-27T23:22:10.761Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcb8350d-c57f-43e3-9e9f-d059ebbf61c9-2022-03-27T232210.761Z AR Autosomal Recessive 0000007 NCBIGene:4478 biolink:gene_associated_with_condition MONDO:0010514 infores:ubergraph knowledge_assertion manual_agent HGNC:7373 MONDO:0010514 NCBIGene:7507 biolink:gene_associated_with_condition MONDO:0010210 infores:ubergraph knowledge_assertion manual_agent HGNC:12814 MONDO:0010210 NCBIGene:8625 biolink:gene_associated_with_condition MONDO:0971013 infores:ubergraph knowledge_assertion manual_agent HGNC:9987 MONDO:0971013 NCBIGene:8858 biolink:gene_associated_with_condition MONDO:0013532 infores:ubergraph knowledge_assertion manual_agent HGNC:9460 MONDO:0013532 NCBIGene:6197 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6197 MONDO:0700096 No evidence available 0 true NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0012805 infores:clingen NCBIGene:6513 MONDO:0012805 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2566 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:4087 MONDO:0005027 Definitive 2020-01-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a3176e9-ac0c-41fe-ae40-0750726c33d8-2020-01-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3973 biolink:gene_associated_with_condition MONDO:0008303 infores:ubergraph knowledge_assertion manual_agent HGNC:6585 MONDO:0008303 NCBIGene:8323 biolink:gene_associated_with_condition MONDO:0008060 infores:ubergraph knowledge_assertion manual_agent HGNC:4044 MONDO:0008060 NCBIGene:2301 biolink:gene_associated_with_condition MONDO:0044301 infores:ubergraph knowledge_assertion manual_agent HGNC:3808 MONDO:0044301 NCBIGene:11020 biolink:gene_associated_with_condition MONDO:0014447 infores:clingen NCBIGene:11020 MONDO:0014447 Gene associated with autosomal recessive phenotype 30 NCBIGene:1427 biolink:gene_associated_with_condition MONDO:0007284 infores:ubergraph knowledge_assertion manual_agent HGNC:2417 MONDO:0007284 NCBIGene:254827 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:254827 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:7577 MONDO:0005453 Limited 2024-02-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9da50d1-a17c-4396-a6e6-632077b277b2-2024-02-12T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8626 biolink:gene_associated_with_condition MONDO:0011428 infores:clingen HGNC:15979 MONDO:0011428 Definitive 2024-10-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b929e5b-2ce9-44b5-8c30-7290c2d8e490-2024-10-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26999 biolink:gene_associated_with_condition MONDO:0033374 infores:ubergraph knowledge_assertion manual_agent HGNC:13760 MONDO:0033374 NCBIGene:4860 biolink:gene_associated_with_condition MONDO:0013171 infores:ubergraph knowledge_assertion manual_agent HGNC:7892 MONDO:0013171 NCBIGene:80217 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:26684 MONDO:0016575 Disputed 2022-12-29T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2622390-3981-4f40-8c28-194fb13dd35a-2022-12-29T200000.000Z UD Undetermined Mode of Inheritance NCBIGene:55746 biolink:gene_associated_with_condition MONDO:0032581 infores:clingen HGNC:18016 MONDO:0032581 Moderate 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bf3146d-c384-4697-9bf0-09659ac6aec0-2024-06-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0012323 infores:ubergraph knowledge_assertion manual_agent HGNC:3052 MONDO:0012323 NCBIGene:701 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:701 MONDO:0700096 No evidence available 0 true NCBIGene:26137 biolink:gene_associated_with_condition MONDO:0009798 infores:ubergraph knowledge_assertion manual_agent HGNC:13503 MONDO:0009798 NCBIGene:701 biolink:gene_associated_with_condition MONDO:0008304 infores:ubergraph knowledge_assertion manual_agent HGNC:1149 MONDO:0008304 NCBIGene:617 biolink:gene_associated_with_condition MONDO:0009872 infores:clingen NCBIGene:617 MONDO:0009872 Definitive 2018-07-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a26b6b5-e703-43fc-bcd0-eaff67ef8107-2018-07-09T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2560 biolink:gene_associated_with_condition MONDO:0014942 infores:ubergraph knowledge_assertion manual_agent HGNC:4081 MONDO:0014942 NCBIGene:5624 biolink:gene_associated_with_condition MONDO:0008316 infores:ubergraph knowledge_assertion manual_agent HGNC:9451 MONDO:0008316 NCBIGene:1029 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1029 MONDO:0700096 No evidence available 0 true NCBIGene:4921 biolink:gene_associated_with_condition MONDO:0032579 infores:clingen HGNC:2731 MONDO:0032579 Moderate 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6fc9f08-7935-48c2-a40e-bf93af5c5e1f-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:164781 biolink:gene_associated_with_condition MONDO:0957922 infores:ubergraph knowledge_assertion manual_agent HGNC:26383 MONDO:0957922 NCBIGene:1719 biolink:gene_associated_with_condition MONDO:0013456 infores:ubergraph knowledge_assertion manual_agent HGNC:2861 MONDO:0013456 NCBIGene:207 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:207 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:580 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen NCBIGene:580 MONDO:0016419 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4647 biolink:gene_associated_with_condition MONDO:0010807 infores:ubergraph knowledge_assertion manual_agent HGNC:7606 MONDO:0010807 NCBIGene:4998 biolink:gene_associated_with_condition MONDO:0009143 infores:ubergraph knowledge_assertion manual_agent HGNC:8487 MONDO:0009143 NCBIGene:843 biolink:gene_associated_with_condition MONDO:0011383 infores:clingen HGNC:1500 MONDO:0011383 Limited 2024-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd4bc3b7-ee3f-4fe0-b24a-be27e0840506-2024-03-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1108 biolink:gene_associated_with_condition MONDO:0014946 infores:ubergraph knowledge_assertion manual_agent HGNC:1919 MONDO:0014946 NCBIGene:128866 biolink:gene_associated_with_condition MONDO:0011547 infores:ubergraph knowledge_assertion manual_agent HGNC:16171 MONDO:0011547 NCBIGene:65018 biolink:gene_associated_with_condition MONDO:0005180 infores:clingen HGNC:14581 MONDO:0005180 Definitive 2023-01-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1999e6c4-eb15-438a-a4ea-98989112dcbb-2023-01-18T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:51010 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51010 MONDO:0700096 No evidence available 0 true NCBIGene:203228 biolink:gene_associated_with_condition MONDO:0007105 infores:ubergraph knowledge_assertion manual_agent HGNC:28337 MONDO:0007105 NCBIGene:1311 biolink:gene_associated_with_condition MONDO:0100593 infores:ubergraph knowledge_assertion manual_agent HGNC:2227 MONDO:0100593 NCBIGene:1292 biolink:gene_associated_with_condition MONDO:0958235 infores:ubergraph knowledge_assertion manual_agent HGNC:2212 MONDO:0958235 NCBIGene:343035 biolink:gene_associated_with_condition MONDO:0700235 infores:clingen HGNC:19689 MONDO:0700235 Definitive 2022-01-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67c894eb-2c16-4598-8e92-8345e562d91c-2022-01-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:83595 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:18196 MONDO:0005453 Limited 2024-10-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a18a4aac-acfb-4059-949c-75c1cf9fac4f-2024-10-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4697 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7687 MONDO:0009723 Limited 2021-01-14T21:44:39.481Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2854d105-0d20-4a19-9dee-d7aa6a60ed99-2021-01-14T214439.481Z AR Autosomal Recessive 0000007 NCBIGene:27063 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:15819 MONDO:0005453 Limited 2024-08-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcf5126d-f39b-45e6-82c6-6f92c1d2435d-2024-08-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2033 biolink:gene_associated_with_condition MONDO:0013364 infores:ubergraph knowledge_assertion manual_agent HGNC:3373 MONDO:0013364 HGNC:5716 biolink:gene_associated_with_condition MONDO:0013576 infores:clingen HGNC:5716 MONDO:0013576 Limited 2021-05-18T16:06:57.607Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_017e48b4-45d1-4bba-b51c-0f372dbe3a6d-2021-05-18T160657.607Z AR Autosomal Recessive 0000007 NCBIGene:4212 biolink:gene_associated_with_condition MONDO:0010970 infores:ubergraph knowledge_assertion manual_agent HGNC:7001 MONDO:0010970 NCBIGene:84818 biolink:gene_associated_with_condition MONDO:0014642 infores:ubergraph knowledge_assertion manual_agent HGNC:18358 MONDO:0014642 NCBIGene:27295 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:20767 MONDO:0005021 Disputed 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78f8d362-f690-4319-912f-1bdceceacccd-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5283 biolink:gene_associated_with_condition MONDO:0060724 infores:clingen HGNC:8964 MONDO:0060724 Limited 2025-10-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef2829dc-c0a5-43f7-a633-36e828cbd4ae-2025-10-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4853 biolink:gene_associated_with_condition MONDO:0012439 infores:ubergraph knowledge_assertion manual_agent HGNC:7882 MONDO:0012439 NCBIGene:7681 biolink:gene_associated_with_condition MONDO:0014137 infores:ubergraph knowledge_assertion manual_agent HGNC:7114 MONDO:0014137 NCBIGene:10844 biolink:gene_associated_with_condition MONDO:0032893 infores:ubergraph knowledge_assertion manual_agent HGNC:18599 MONDO:0032893 NCBIGene:7480 biolink:gene_associated_with_condition MONDO:0014901 infores:ubergraph knowledge_assertion manual_agent HGNC:12775 MONDO:0014901 NCBIGene:63925 biolink:gene_associated_with_condition MONDO:0014043 infores:ubergraph knowledge_assertion manual_agent HGNC:15807 MONDO:0014043 NCBIGene:6925 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6925 MONDO:0700096 No evidence available 0 true NCBIGene:8322 biolink:gene_associated_with_condition MONDO:1040041 infores:ubergraph knowledge_assertion manual_agent HGNC:4042 MONDO:1040041 NCBIGene:2201 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2201 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:85358 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:85358 MONDO:0700096 No evidence available 0 true NCBIGene:6651 biolink:gene_associated_with_condition MONDO:0014936 infores:clingen NCBIGene:6651 MONDO:0014936 Definitive 2023-08-24T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7e86b1d-154a-40b5-b454-fad392f87782-2023-08-24T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22978 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:8022 MONDO:0015150 Definitive 2024-09-12T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d359b0c-c719-4f5a-8355-1694398f4b79-2024-09-12T023000.000Z AR Autosomal Recessive 0000007 NCBIGene:1911 biolink:gene_associated_with_condition MONDO:0014173 infores:clingen NCBIGene:1911 MONDO:0014173 Gene associated with autosomal recessive phenotype 30 NCBIGene:410 biolink:gene_associated_with_condition MONDO:0018868 infores:clingen HGNC:713 MONDO:0018868 Definitive 2023-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8d351d5-5158-4cc2-b4dd-d3179b53e2a4-2023-06-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:345 biolink:gene_associated_with_condition MONDO:0013534 infores:ubergraph knowledge_assertion manual_agent HGNC:610 MONDO:0013534 NCBIGene:9149 biolink:gene_associated_with_condition MONDO:0014352 infores:ubergraph knowledge_assertion manual_agent HGNC:3092 MONDO:0014352 NCBIGene:23327 biolink:gene_associated_with_condition MONDO:0014966 infores:clingen HGNC:7728 MONDO:0014966 Definitive 2021-11-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b131d46a-069b-4c2e-a290-e7df2519a2df-2021-11-30T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7248 biolink:gene_associated_with_condition MONDO:0001734 infores:clingen NCBIGene:7248 MONDO:0001734 Definitive 2019-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b07bb0-1385-4344-8b6c-571f6a271000-2019-01-23T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:81570 biolink:gene_associated_with_condition MONDO:0014561 infores:ubergraph knowledge_assertion manual_agent HGNC:30664 MONDO:0014561 NCBIGene:2259 biolink:gene_associated_with_condition MONDO:0859340 infores:ubergraph knowledge_assertion manual_agent HGNC:3671 MONDO:0859340 NCBIGene:7957 biolink:gene_associated_with_condition MONDO:0958199 infores:ubergraph knowledge_assertion manual_agent HGNC:3413 MONDO:0958199 NCBIGene:8493 biolink:gene_associated_with_condition MONDO:0044318 infores:ubergraph knowledge_assertion manual_agent HGNC:9277 MONDO:0044318 NCBIGene:818 biolink:gene_associated_with_condition MONDO:0032795 infores:clingen HGNC:1463 MONDO:0032795 Limited 2025-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_525f1ddb-a662-4baf-b877-45fc26e07b71-2025-04-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3155 biolink:gene_associated_with_condition MONDO:0009520 infores:clingen HGNC:5005 MONDO:0009520 Definitive 2018-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4d084e5-a740-4bfd-a850-d6db900d4a4e-2018-06-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6913 biolink:gene_associated_with_condition MONDO:0009845 infores:ubergraph knowledge_assertion manual_agent HGNC:11594 MONDO:0009845 NCBIGene:23498 biolink:gene_associated_with_condition MONDO:0060554 infores:ubergraph knowledge_assertion manual_agent HGNC:4796 MONDO:0060554 NCBIGene:23116 biolink:gene_associated_with_condition MONDO:0030933 infores:ubergraph knowledge_assertion manual_agent HGNC:19959 MONDO:0030933 NCBIGene:10804 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:4288 MONDO:0019497 Refuted 2018-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f281869c-25e5-44ad-94e7-c7d6374755fd-2018-04-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6616 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:11132 MONDO:0100062 Definitive 2022-03-23T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5696dbd2-dfe5-4c96-baec-c9d963959b28-2022-03-23T230000.000Z AD Autosomal Dominant 0000006 NCBIGene:3156 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:5006 MONDO:0015152 Moderate 2024-08-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83df8b99-e09d-4460-8b77-ec656d47882a-2024-08-13T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:9499 biolink:gene_associated_with_condition MONDO:0012215 infores:ubergraph knowledge_assertion manual_agent HGNC:12399 MONDO:0012215 NCBIGene:64682 biolink:gene_associated_with_condition MONDO:0016368 infores:ubergraph knowledge_assertion manual_agent HGNC:19988 MONDO:0016368 NCBIGene:58499 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:58499 MONDO:0700096 No evidence available 0 true NCBIGene:23405 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23405 MONDO:0700096 No evidence available 0 true NCBIGene:7994 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7994 MONDO:0700096 No evidence available 0 true NCBIGene:197322 biolink:gene_associated_with_condition MONDO:0013661 infores:clingen NCBIGene:197322 MONDO:0013661 Definitive 2020-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b215e20c-7781-49a0-b473-9219cb07e0b9-2020-10-09T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:652 biolink:gene_associated_with_condition MONDO:0010906 infores:ubergraph knowledge_assertion manual_agent HGNC:1071 MONDO:0010906 NCBIGene:8893 biolink:gene_associated_with_condition MONDO:0957873 infores:clingen HGNC:3261 MONDO:0957873 Definitive 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6cf3226-04b0-4709-bc55-b97ca4bea8d7-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2066 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:2066 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:140803 biolink:gene_associated_with_condition MONDO:0011176 infores:ubergraph knowledge_assertion manual_agent HGNC:17995 MONDO:0011176 NCBIGene:3418 biolink:gene_associated_with_condition MONDO:0013345 infores:ubergraph knowledge_assertion manual_agent HGNC:5383 MONDO:0013345 NCBIGene:81555 biolink:gene_associated_with_condition MONDO:0025690 infores:ubergraph knowledge_assertion manual_agent HGNC:24877 MONDO:0025690 NCBIGene:56983 biolink:gene_associated_with_condition MONDO:0014977 infores:ubergraph knowledge_assertion manual_agent HGNC:22954 MONDO:0014977 NCBIGene:26258 biolink:gene_associated_with_condition MONDO:0013606 infores:ubergraph knowledge_assertion manual_agent HGNC:8549 MONDO:0013606 NCBIGene:773 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:773 MONDO:0700096 No evidence available 0 true NCBIGene:6399 biolink:gene_associated_with_condition MONDO:0010737 infores:clingen NCBIGene:6399 MONDO:0010737 Sufficient evidence for dosage pathogenicity 3 NCBIGene:83696 biolink:gene_associated_with_condition MONDO:0013173 infores:ubergraph knowledge_assertion manual_agent HGNC:30832 MONDO:0013173 NCBIGene:7140 biolink:gene_associated_with_condition MONDO:0032750 infores:ubergraph knowledge_assertion manual_agent HGNC:11950 MONDO:0032750 NCBIGene:25978 biolink:gene_associated_with_condition MONDO:0010936 infores:clingen HGNC:24537 MONDO:0010936 Definitive 2022-07-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_287cab44-b8b6-411c-903a-6214ac5e98af-2022-07-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2879 biolink:gene_associated_with_condition MONDO:0009593 infores:ubergraph knowledge_assertion manual_agent HGNC:4556 MONDO:0009593 NCBIGene:8625 biolink:gene_associated_with_condition MONDO:0008855 infores:clingen HGNC:9987 MONDO:0008855 Definitive 2022-11-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbfd1148-ab31-4ab2-97bb-9b95387e9313-2022-11-17T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:120 biolink:gene_associated_with_condition MONDO:0014862 infores:ubergraph knowledge_assertion manual_agent HGNC:245 MONDO:0014862 NCBIGene:7025 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7025 MONDO:0700096 No evidence available 0 true NCBIGene:4747 biolink:gene_associated_with_condition MONDO:0011902 infores:ubergraph knowledge_assertion manual_agent HGNC:7739 MONDO:0011902 NCBIGene:4137 biolink:gene_associated_with_condition MONDO:0009839 infores:ubergraph knowledge_assertion manual_agent HGNC:6893 MONDO:0009839 NCBIGene:10716 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10716 MONDO:0700096 No evidence available 0 true NCBIGene:1962 biolink:gene_associated_with_condition MONDO:0014275 infores:clingen HGNC:3247 MONDO:0014275 Limited 2023-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f938d7bc-f717-438c-bc27-962ba62dde93-2023-03-03T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7010 biolink:gene_associated_with_condition MONDO:0800182 infores:clingen HGNC:11724 MONDO:0800182 Definitive 2022-08-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20f13e3f-f927-46c1-b5ed-919f696a7687-2022-08-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2071 biolink:gene_associated_with_condition MONDO:0012531 infores:ubergraph knowledge_assertion manual_agent HGNC:3435 MONDO:0012531 NCBIGene:27063 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:15819 MONDO:0005021 Limited 2025-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dcc6918-d7e7-4385-b343-bc8b8678b3a4-2025-02-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6772 biolink:gene_associated_with_condition MONDO:0013427 infores:ubergraph knowledge_assertion manual_agent HGNC:11362 MONDO:0013427 NCBIGene:2103 biolink:gene_associated_with_condition MONDO:0012060 infores:ubergraph knowledge_assertion manual_agent HGNC:3473 MONDO:0012060 NCBIGene:84061 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen HGNC:28880 MONDO:0100284 Disputed 2023-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d00155ee-71d6-4d9d-bb08-91a0dee42932-2023-02-08T170000.000Z XL X-linked 0001417 NCBIGene:779 biolink:gene_associated_with_condition MONDO:0042979 infores:ubergraph knowledge_assertion manual_agent HGNC:1397 MONDO:0042979 NCBIGene:22897 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22897 MONDO:0700096 No evidence available 0 true NCBIGene:80208 biolink:gene_associated_with_condition MONDO:0011445 infores:ubergraph knowledge_assertion manual_agent HGNC:11226 MONDO:0011445 NCBIGene:56922 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:56922 MONDO:0700096 No evidence available 0 true NCBIGene:7469 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7469 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:55572 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:26927 MONDO:0044970 Definitive 2023-08-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb90cbcf-435a-40fc-8ba8-d1c6314b4733-2023-08-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6736 biolink:gene_associated_with_condition MONDO:0020712 infores:ubergraph knowledge_assertion manual_agent HGNC:11311 MONDO:0020712 NCBIGene:213 biolink:gene_associated_with_condition MONDO:0014448 infores:clingen HGNC:399 MONDO:0014448 Moderate 2025-05-09T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01c39e59-0831-4bc0-a3bb-603d92d81059-2025-05-09T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:1794 biolink:gene_associated_with_condition MONDO:0014637 infores:ubergraph knowledge_assertion manual_agent HGNC:2988 MONDO:0014637 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3708 MONDO:0700096 No evidence available 0 true NCBIGene:84081 biolink:gene_associated_with_condition MONDO:0859275 infores:clingen HGNC:25305 MONDO:0859275 Moderate 2024-12-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aedfe664-3c38-4478-aab0-32820b3bc8b4-2024-12-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7543 biolink:gene_associated_with_condition MONDO:1040018 infores:clingen HGNC:12869 MONDO:1040018 Strong 2024-11-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc58b2d5-0452-49e1-8a11-2c1d327fbb96-2024-11-20T170000.000Z XL X-linked 0001417 NCBIGene:51371 biolink:gene_associated_with_condition MONDO:0011169 infores:clingen NCBIGene:51371 MONDO:0011169 Gene associated with autosomal recessive phenotype 30 NCBIGene:10613 biolink:gene_associated_with_condition MONDO:0014302 infores:ubergraph knowledge_assertion manual_agent HGNC:16947 MONDO:0014302 NCBIGene:54968 biolink:gene_associated_with_condition MONDO:0013546 infores:ubergraph knowledge_assertion manual_agent HGNC:26050 MONDO:0013546 NCBIGene:5071 biolink:gene_associated_with_condition MONDO:0010820 infores:ubergraph knowledge_assertion manual_agent HGNC:8607 MONDO:0010820 NCBIGene:29968 biolink:gene_associated_with_condition MONDO:0014466 infores:ubergraph knowledge_assertion manual_agent HGNC:19129 MONDO:0014466 NCBIGene:9731 biolink:gene_associated_with_condition MONDO:0031031 infores:ubergraph knowledge_assertion manual_agent HGNC:24866 MONDO:0031031 NCBIGene:79783 biolink:gene_associated_with_condition MONDO:0009283 infores:clingen HGNC:16001 MONDO:0009283 Moderate 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10622f19-d307-4fa8-b3ff-a799922e7fea-2024-12-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6911 biolink:gene_associated_with_condition MONDO:0007389 infores:ubergraph knowledge_assertion manual_agent HGNC:11605 MONDO:0007389 NCBIGene:389434 biolink:gene_associated_with_condition MONDO:0010136 infores:clingen NCBIGene:389434 MONDO:0010136 Gene associated with autosomal recessive phenotype 30 NCBIGene:5444 biolink:gene_associated_with_condition MONDO:0012969 infores:ubergraph knowledge_assertion manual_agent HGNC:9204 MONDO:0012969 NCBIGene:3251 biolink:gene_associated_with_condition MONDO:0010298 infores:ubergraph knowledge_assertion manual_agent HGNC:5157 MONDO:0010298 NCBIGene:22995 biolink:gene_associated_with_condition MONDO:0100346 infores:clingen HGNC:29298 MONDO:0100346 Definitive 2022-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52841ad8-48fd-4b71-bf08-828656cd83f6-2022-06-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5428 biolink:gene_associated_with_condition MONDO:0024528 infores:ubergraph knowledge_assertion manual_agent HGNC:9179 MONDO:0024528 NCBIGene:81689 biolink:gene_associated_with_condition MONDO:0033282 infores:ubergraph knowledge_assertion manual_agent HGNC:28660 MONDO:0033282 NCBIGene:3858 biolink:gene_associated_with_condition MONDO:0958184 infores:ubergraph knowledge_assertion manual_agent HGNC:6413 MONDO:0958184 NCBIGene:182 biolink:gene_associated_with_condition MONDO:0030458 infores:ubergraph knowledge_assertion manual_agent HGNC:6188 MONDO:0030458 NCBIGene:2775 biolink:gene_associated_with_condition MONDO:0060491 infores:ubergraph knowledge_assertion manual_agent HGNC:4389 MONDO:0060491 NCBIGene:2590 biolink:gene_associated_with_condition MONDO:0030043 infores:ubergraph knowledge_assertion manual_agent HGNC:4124 MONDO:0030043 NCBIGene:2782 biolink:gene_associated_with_condition MONDO:0014855 infores:ubergraph knowledge_assertion manual_agent HGNC:4396 MONDO:0014855 NCBIGene:4929 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4929 MONDO:0700096 No evidence available 0 true NCBIGene:4148 biolink:gene_associated_with_condition MONDO:0011765 infores:ubergraph knowledge_assertion manual_agent HGNC:6909 MONDO:0011765 NCBIGene:776 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:1391 MONDO:0100038 Definitive 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9eb44537-f403-45ce-b89e-83363918f986-2024-09-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1201 biolink:gene_associated_with_condition MONDO:0008767 infores:clingen NCBIGene:1201 MONDO:0008767 Gene associated with autosomal recessive phenotype 30 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0007160 infores:clingen NCBIGene:1280 MONDO:0007160 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3eb9287e-d731-417e-a814-9630b47301a4-2023-09-28T040000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2623 biolink:gene_associated_with_condition MONDO:0100089 infores:clingen HGNC:4170 MONDO:0100089 Definitive 2020-05-27T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad980194-b275-4bbb-b3df-73c1a50d3eac-2020-05-27T040000.000Z XL X-linked 0001417 NCBIGene:55975 biolink:gene_associated_with_condition MONDO:0035823 infores:ubergraph knowledge_assertion manual_agent HGNC:15646 MONDO:0035823 NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0009079 infores:clingen HGNC:29203 MONDO:0009079 Definitive 2020-03-11T13:20:31.642Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fcb9839-6798-4195-8959-08d45bc63339-2020-03-11T132031.642Z AR Autosomal Recessive 0000007 NCBIGene:9973 biolink:gene_associated_with_condition MONDO:0017762 infores:clingen HGNC:1613 MONDO:0017762 No Known Disease Relationship 2024-09-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2f759b8-ef60-4bfd-a56f-f62feb409840-2024-09-30T170000.000Z UD Undetermined Mode of Inheritance NCBIGene:775 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:1390 MONDO:0002442 Moderate 2020-04-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c496551d-c7a7-4e49-ad41-8cfd49840dc1-2020-04-24T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:392255 biolink:gene_associated_with_condition MONDO:0007306 infores:ubergraph knowledge_assertion manual_agent HGNC:4221 MONDO:0007306 NCBIGene:123263 biolink:gene_associated_with_condition MONDO:0032631 infores:ubergraph knowledge_assertion manual_agent HGNC:29666 MONDO:0032631 NCBIGene:1690 biolink:gene_associated_with_condition MONDO:0011058 infores:ubergraph knowledge_assertion manual_agent HGNC:2180 MONDO:0011058 NCBIGene:2700 biolink:gene_associated_with_condition MONDO:0011162 infores:ubergraph knowledge_assertion manual_agent HGNC:4277 MONDO:0011162 NCBIGene:3064 biolink:gene_associated_with_condition MONDO:0007739 infores:ubergraph knowledge_assertion manual_agent HGNC:4851 MONDO:0007739 NCBIGene:23040 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23040 MONDO:0700096 No evidence available 0 true NCBIGene:2548 biolink:gene_associated_with_condition MONDO:0009290 infores:clingen NCBIGene:2548 MONDO:0009290 Definitive 2019-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0554320e-6a8f-4c39-be7f-99959a8341ee-2019-01-23T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1767 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1767 MONDO:0700096 No evidence available 0 true NCBIGene:611 biolink:gene_associated_with_condition MONDO:0008610 infores:ubergraph knowledge_assertion manual_agent HGNC:1012 MONDO:0008610 NCBIGene:3815 biolink:gene_associated_with_condition MONDO:0008244 infores:ubergraph knowledge_assertion manual_agent HGNC:6342 MONDO:0008244 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:1040030 infores:ubergraph knowledge_assertion manual_agent HGNC:4177 MONDO:1040030 NCBIGene:153562 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26401 MONDO:0019497 Definitive 2018-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba6df3f7-a000-401c-94d9-0dc5cb901f32-2018-01-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2224 biolink:gene_associated_with_condition MONDO:0014713 infores:ubergraph knowledge_assertion manual_agent HGNC:3631 MONDO:0014713 NCBIGene:7071 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:11810 MONDO:0005045 Limited 2022-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_524bb91c-07d4-4f65-bdc0-fc568a5930c8-2022-09-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:50 biolink:gene_associated_with_condition MONDO:0014571 infores:clingen HGNC:118 MONDO:0014571 Definitive 2024-04-05T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_236ff728-58f0-4f71-8575-8dd8546c8fba-2024-04-05T190000.000Z SD Semidominant 0032113 NCBIGene:9657 biolink:gene_associated_with_condition MONDO:0012225 infores:ubergraph knowledge_assertion manual_agent HGNC:28949 MONDO:0012225 NCBIGene:54499 biolink:gene_associated_with_condition MONDO:0031329 infores:clingen NCBIGene:54499 MONDO:0031329 Gene associated with autosomal recessive phenotype 30 NCBIGene:5350 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:9080 MONDO:0016587 Moderate 2020-12-17T21:32:24.631Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13027de9-c84a-4968-936b-6356265193a6-2020-12-17T213224.631Z AD Autosomal Dominant 0000006 NCBIGene:9702 biolink:gene_associated_with_condition MONDO:0013582 infores:ubergraph knowledge_assertion manual_agent HGNC:30794 MONDO:0013582 NCBIGene:3295 biolink:gene_associated_with_condition MONDO:0009855 infores:ubergraph knowledge_assertion manual_agent HGNC:5213 MONDO:0009855 NCBIGene:3207 biolink:gene_associated_with_condition MONDO:0024558 infores:ubergraph knowledge_assertion manual_agent HGNC:5101 MONDO:0024558 NCBIGene:6608 biolink:gene_associated_with_condition MONDO:1030005 infores:ubergraph knowledge_assertion manual_agent HGNC:11119 MONDO:1030005 NCBIGene:644096 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:644096 MONDO:0700096 No evidence available 0 true NCBIGene:129285 biolink:gene_associated_with_condition MONDO:0859165 infores:clingen HGNC:30595 MONDO:0859165 Strong 2023-10-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8743574-2fe2-4819-a7bd-40e94d20065e-2023-10-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55624 biolink:gene_associated_with_condition MONDO:0700068 infores:clingen HGNC:19139 MONDO:0700068 Definitive 2024-08-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bb8479-2ed3-4b15-9e54-378ea0729ab2-2024-08-14T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:57102 biolink:gene_associated_with_condition MONDO:0032605 infores:ubergraph knowledge_assertion manual_agent HGNC:1184 MONDO:0032605 NCBIGene:55640 biolink:gene_associated_with_condition MONDO:0009168 infores:ubergraph knowledge_assertion manual_agent HGNC:20105 MONDO:0009168 NCBIGene:57560 biolink:gene_associated_with_condition MONDO:0012644 infores:ubergraph knowledge_assertion manual_agent HGNC:29262 MONDO:0012644 NCBIGene:7389 biolink:gene_associated_with_condition MONDO:0100498 infores:ubergraph knowledge_assertion manual_agent HGNC:12591 MONDO:0100498 NCBIGene:10682 biolink:gene_associated_with_condition MONDO:0010498 infores:ubergraph knowledge_assertion manual_agent HGNC:3133 MONDO:0010498 NCBIGene:374462 biolink:gene_associated_with_condition MONDO:0013249 infores:clingen NCBIGene:374462 MONDO:0013249 Gene associated with autosomal recessive phenotype 30 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0010699 infores:ubergraph knowledge_assertion manual_agent HGNC:9462 MONDO:0010699 NCBIGene:79188 biolink:gene_associated_with_condition MONDO:0859235 infores:ubergraph knowledge_assertion manual_agent HGNC:28472 MONDO:0859235 NCBIGene:658 biolink:gene_associated_with_condition MONDO:0014798 infores:ubergraph knowledge_assertion manual_agent HGNC:1077 MONDO:0014798 NCBIGene:1759 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1759 MONDO:0700096 No evidence available 0 true NCBIGene:1356 biolink:gene_associated_with_condition MONDO:0011426 infores:clingen NCBIGene:1356 MONDO:0011426 Definitive 2025-10-27T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c54ee607-edd6-42dc-a4ac-f4060ae6b209-2025-10-27T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:129684 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:129684 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:5625 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5625 MONDO:0700096 No evidence available 0 true NCBIGene:83990 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:20473 MONDO:0016419 Refuted 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87aa8181-721b-4583-98cf-0dead1827e27-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:5002 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5002 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6813 biolink:gene_associated_with_condition MONDO:0013135 infores:clingen HGNC:11445 MONDO:0013135 Definitive 2023-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b5c9256-89e0-4f97-a7ca-dd07bdd237f9-2023-09-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2904 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4586 MONDO:0100038 Definitive 2019-03-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8d9346-2ab7-4ef1-9071-9b8ae4178174-2019-03-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:55526 biolink:gene_associated_with_condition MONDO:0014012 infores:ubergraph knowledge_assertion manual_agent HGNC:23537 MONDO:0014012 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0007958 infores:ubergraph knowledge_assertion manual_agent HGNC:9967 MONDO:0007958 NCBIGene:2819 biolink:gene_associated_with_condition MONDO:0013771 infores:clingen NCBIGene:2819 MONDO:0013771 Gene associated with autosomal recessive phenotype 30 NCBIGene:825 biolink:gene_associated_with_condition MONDO:0009675 infores:ubergraph knowledge_assertion manual_agent HGNC:1480 MONDO:0009675 NCBIGene:8492 biolink:gene_associated_with_condition MONDO:0000509 infores:clingen HGNC:9477 MONDO:0000509 Limited 2021-08-04T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d98f99d6-b1df-4cad-a53b-c94cfb532167-2021-08-04T060000.000Z AR Autosomal Recessive 0000007 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0007986 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0007986 NCBIGene:1959 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:3239 MONDO:0015626 Definitive 2021-11-17T03:35:16.468Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6e83e27-0c9a-4475-92f5-745303931858-2021-11-17T033516.468Z SD Semidominant 0032113 NCBIGene:1644 biolink:gene_associated_with_condition MONDO:0012084 infores:clingen HGNC:2719 MONDO:0012084 Definitive 2022-02-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dea33e3-7cf6-47f9-aa52-2525b439031a-2022-02-25T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4632 biolink:gene_associated_with_condition MONDO:0034109 infores:ubergraph knowledge_assertion manual_agent HGNC:7582 MONDO:0034109 NCBIGene:92154 biolink:gene_associated_with_condition MONDO:0859303 infores:ubergraph knowledge_assertion manual_agent HGNC:25094 MONDO:0859303 NCBIGene:338328 biolink:gene_associated_with_condition MONDO:0014412 infores:clingen NCBIGene:338328 MONDO:0014412 Gene associated with autosomal recessive phenotype 30 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0010611 infores:clingen NCBIGene:3897 MONDO:0010611 Sufficient evidence for dosage pathogenicity 3 NCBIGene:50484 biolink:gene_associated_with_condition MONDO:0010000 infores:ubergraph knowledge_assertion manual_agent HGNC:17296 MONDO:0010000 NCBIGene:4853 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4853 MONDO:0700096 No evidence available 0 true NCBIGene:7204 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7204 MONDO:0700096 No evidence available 0 true NCBIGene:6929 biolink:gene_associated_with_condition MONDO:0011096 infores:clingen HGNC:11633 MONDO:0011096 Definitive 2023-01-07T12:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402ff7db-2e09-4e76-9284-1e7c4ae84fb3-2023-01-07T120000.000Z SD Semidominant 0032113 NCBIGene:973 biolink:gene_associated_with_condition MONDO:0013288 infores:clingen HGNC:1698 MONDO:0013288 Definitive 2020-12-15T13:59:09.057Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12a6257c-c9ca-432a-ab76-b05985283381-2020-12-15T135909.057Z AR Autosomal Recessive 0000007 NCBIGene:10981 biolink:gene_associated_with_condition MONDO:0975748 infores:ubergraph knowledge_assertion manual_agent HGNC:9772 MONDO:0975748 NCBIGene:777 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:777 MONDO:0700096 No evidence available 0 true NCBIGene:6888 biolink:gene_associated_with_condition MONDO:0011624 infores:ubergraph knowledge_assertion manual_agent HGNC:11559 MONDO:0011624 NCBIGene:4634 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen NCBIGene:4634 MONDO:0005045 Definitive 2021-06-07T14:50:50.605Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b9d56-4f2a-4479-8913-1d96ddc28592-2021-06-07T145050.605Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:3035 biolink:gene_associated_with_condition MONDO:0016485 infores:clingen HGNC:4816 MONDO:0016485 Refuted 2018-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca3372fa-f205-44e5-8bd9-6c64c40ebd93-2018-02-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4222 biolink:gene_associated_with_condition MONDO:0008958 infores:ubergraph knowledge_assertion manual_agent HGNC:7013 MONDO:0008958 NCBIGene:9132 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:6298 MONDO:0019497 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88196c6d-4bd7-4aff-ba98-c7b4411c562d-2017-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:254048 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen NCBIGene:254048 MONDO:0005258 true Little evidence for dosage pathogenicity 1 NCBIGene:7827 biolink:gene_associated_with_condition MONDO:0010974 infores:ubergraph knowledge_assertion manual_agent HGNC:13394 MONDO:0010974 NCBIGene:3748 biolink:gene_associated_with_condition MONDO:0011529 infores:clingen HGNC:6235 MONDO:0011529 Definitive 2024-11-07T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18613a4a-5124-499a-b224-1c4aae4b1c55-2024-11-07T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:4615 biolink:gene_associated_with_condition MONDO:0100281 infores:ubergraph knowledge_assertion manual_agent HGNC:7562 MONDO:0100281 NCBIGene:7040 biolink:gene_associated_with_condition MONDO:0032601 infores:clingen HGNC:11766 MONDO:0032601 Limited 2024-11-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f9c2f55-4055-4acf-841a-4d37df8e7af8-2024-11-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3000 biolink:gene_associated_with_condition MONDO:0100454 infores:ubergraph knowledge_assertion manual_agent HGNC:4689 MONDO:0100454 NCBIGene:81857 biolink:gene_associated_with_condition MONDO:0014643 infores:ubergraph knowledge_assertion manual_agent HGNC:28845 MONDO:0014643 NCBIGene:168667 biolink:gene_associated_with_condition MONDO:0011946 infores:ubergraph knowledge_assertion manual_agent HGNC:24154 MONDO:0011946 NCBIGene:2488 biolink:gene_associated_with_condition MONDO:0009239 infores:clingen NCBIGene:2488 MONDO:0009239 Gene associated with autosomal recessive phenotype 30 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0012143 infores:ubergraph knowledge_assertion manual_agent HGNC:11005 MONDO:0012143 NCBIGene:24 biolink:gene_associated_with_condition MONDO:0800406 infores:clingen HGNC:34 MONDO:0800406 Definitive 2022-10-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38729563-bf36-48ae-929e-fa69a225de39-2022-10-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3071 biolink:gene_associated_with_condition MONDO:0033551 infores:ubergraph knowledge_assertion manual_agent HGNC:4862 MONDO:0033551 NCBIGene:55167 biolink:gene_associated_with_condition MONDO:0975836 infores:ubergraph knowledge_assertion manual_agent HGNC:25544 MONDO:0975836 NCBIGene:23396 biolink:gene_associated_with_condition MONDO:0012656 infores:ubergraph knowledge_assertion manual_agent HGNC:8996 MONDO:0012656 NCBIGene:6928 biolink:gene_associated_with_condition MONDO:0007669 infores:clingen NCBIGene:6928 MONDO:0007669 Definitive 2021-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4174ea0a-6901-4070-ad93-d92614fd55c0-2021-01-19T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3106 biolink:gene_associated_with_condition MONDO:0007126 infores:ubergraph knowledge_assertion manual_agent HGNC:4932 MONDO:0007126 NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010726 infores:ubergraph knowledge_assertion manual_agent HGNC:6990 MONDO:0010726 NCBIGene:6165 biolink:gene_associated_with_condition MONDO:0012925 infores:ubergraph knowledge_assertion manual_agent HGNC:10345 MONDO:0012925 NCBIGene:30813 biolink:gene_associated_with_condition MONDO:0013618 infores:ubergraph knowledge_assertion manual_agent HGNC:12723 MONDO:0013618 NCBIGene:5663 biolink:gene_associated_with_condition MONDO:0011913 infores:ubergraph knowledge_assertion manual_agent HGNC:9508 MONDO:0011913 NCBIGene:56603 biolink:gene_associated_with_condition MONDO:0013740 infores:ubergraph knowledge_assertion manual_agent HGNC:20581 MONDO:0013740 NCBIGene:220074 biolink:gene_associated_with_condition MONDO:0012670 infores:clingen HGNC:25033 MONDO:0012670 Definitive 2017-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5662 AR Autosomal Recessive 0000007 NCBIGene:6535 biolink:gene_associated_with_condition MONDO:0010305 infores:ubergraph knowledge_assertion manual_agent HGNC:11055 MONDO:0010305 NCBIGene:51776 biolink:gene_associated_with_condition MONDO:0054695 infores:clingen HGNC:17797 MONDO:0054695 Strong 2024-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03628749-51d6-437e-9816-1e32852645cf-2024-10-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6011 biolink:gene_associated_with_condition MONDO:0019152 infores:clingen HGNC:10013 MONDO:0019152 Definitive 2021-01-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6e159cb-c02a-417c-9c60-a9b66db41c73-2021-01-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8738 biolink:gene_associated_with_condition MONDO:0013785 infores:ubergraph knowledge_assertion manual_agent HGNC:2340 MONDO:0013785 NCBIGene:5429 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5429 MONDO:0700096 No evidence available 0 true NCBIGene:1376 biolink:gene_associated_with_condition MONDO:0012136 infores:ubergraph knowledge_assertion manual_agent HGNC:2330 MONDO:0012136 NCBIGene:57017 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:25302 MONDO:0009723 Limited 2021-04-09T14:06:34.407Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cebc5501-5d36-4767-98bc-edc4ddab3527-2021-04-09T140634.407Z AR Autosomal Recessive 0000007 NCBIGene:2742 biolink:gene_associated_with_condition MONDO:0024772 infores:ubergraph knowledge_assertion manual_agent HGNC:4327 MONDO:0024772 NCBIGene:5076 biolink:gene_associated_with_condition MONDO:0007352 infores:ubergraph knowledge_assertion manual_agent HGNC:8616 MONDO:0007352 NCBIGene:93589 biolink:gene_associated_with_condition MONDO:0700244 infores:ubergraph knowledge_assertion manual_agent HGNC:20202 MONDO:0700244 NCBIGene:7072 biolink:gene_associated_with_condition MONDO:0030885 infores:clingen HGNC:11802 MONDO:0030885 Limited 2022-10-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_555a0c95-2fb8-44d2-b2bf-c02b16d3fa6f-2022-10-11T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4884 biolink:gene_associated_with_condition MONDO:0859334 infores:ubergraph knowledge_assertion manual_agent HGNC:7952 MONDO:0859334 NCBIGene:6138 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6138 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:23067 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23067 MONDO:0100038 Definitive 2024-08-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c7e8ef-e3f7-483e-87bb-7de1c11637d4-2024-08-20T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2159 biolink:gene_associated_with_condition MONDO:0009212 infores:ubergraph knowledge_assertion manual_agent HGNC:3528 MONDO:0009212 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0012333 infores:ubergraph knowledge_assertion manual_agent HGNC:2187 MONDO:0012333 NCBIGene:2186 biolink:gene_associated_with_condition MONDO:0060596 infores:ubergraph knowledge_assertion manual_agent HGNC:3581 MONDO:0060596 NCBIGene:7007 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7007 MONDO:0700096 No evidence available 0 true NCBIGene:78987 biolink:gene_associated_with_condition MONDO:0958329 infores:ubergraph knowledge_assertion manual_agent HGNC:14630 MONDO:0958329 NCBIGene:51 biolink:gene_associated_with_condition MONDO:0030073 infores:ubergraph knowledge_assertion manual_agent HGNC:119 MONDO:0030073 NCBIGene:695 biolink:gene_associated_with_condition MONDO:0010421 infores:ubergraph knowledge_assertion manual_agent HGNC:1133 MONDO:0010421 NCBIGene:7415 biolink:gene_associated_with_condition MONDO:0018006 infores:ubergraph knowledge_assertion manual_agent HGNC:12666 MONDO:0018006 NCBIGene:343035 biolink:gene_associated_with_condition MONDO:0700235 infores:ubergraph knowledge_assertion manual_agent HGNC:19689 MONDO:0700235 NCBIGene:95681 biolink:gene_associated_with_condition MONDO:0013763 infores:ubergraph knowledge_assertion manual_agent HGNC:12370 MONDO:0013763 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0018150 infores:clingen NCBIGene:2629 MONDO:0018150 Definitive 2020-06-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbc5a876-f97e-4f9c-be99-664e2f6c8470-2020-06-24T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2898 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4580 MONDO:0100038 Moderate 2022-02-10T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1939b90b-f1e4-4426-9f8c-5526f9003f10-2022-02-10T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:27302 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:20869 MONDO:0015924 Limited 2022-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98be8b85-16ad-46d3-9736-2b240803da21-2022-10-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1353 biolink:gene_associated_with_condition MONDO:0859520 infores:ubergraph knowledge_assertion manual_agent HGNC:2261 MONDO:0859520 NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0010217 infores:ubergraph knowledge_assertion manual_agent HGNC:3438 MONDO:0010217 NCBIGene:55806 biolink:gene_associated_with_condition MONDO:0008847 infores:ubergraph knowledge_assertion manual_agent HGNC:5172 MONDO:0008847 NCBIGene:999 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:1748 MONDO:0016248 No Known Disease Relationship 2017-08-03T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8503 AD Autosomal Dominant 0000006 NCBIGene:57798 biolink:gene_associated_with_condition MONDO:0013848 infores:clingen NCBIGene:57798 MONDO:0013848 Gene associated with autosomal recessive phenotype 30 NCBIGene:29123 biolink:gene_associated_with_condition MONDO:0007846 infores:clingen NCBIGene:29123 MONDO:0007846 Definitive 2019-11-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf3e887e-8da4-45ea-bec8-9565f8246bc9-2019-11-26T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4540 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7461 MONDO:0009723 Definitive 2021-06-14T15:55:37.548Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941d385-716f-4264-8f24-ffe3022579e2-2021-06-14T155537.548Z MT Mitochondrial 0001427 NCBIGene:7050 biolink:gene_associated_with_condition MONDO:0007734 infores:clingen NCBIGene:7050 MONDO:0007734 Sufficient evidence for dosage pathogenicity 3 NCBIGene:221496 biolink:gene_associated_with_condition MONDO:0859147 infores:ubergraph knowledge_assertion manual_agent HGNC:21244 MONDO:0859147 NCBIGene:57728 biolink:gene_associated_with_condition MONDO:0013718 infores:ubergraph knowledge_assertion manual_agent HGNC:18340 MONDO:0013718 NCBIGene:53616 biolink:gene_associated_with_condition MONDO:0033370 infores:ubergraph knowledge_assertion manual_agent HGNC:201 MONDO:0033370 NCBIGene:5264 biolink:gene_associated_with_condition MONDO:0009958 infores:clingen NCBIGene:5264 MONDO:0009958 Gene associated with autosomal recessive phenotype 30 NCBIGene:23133 biolink:gene_associated_with_condition MONDO:0010286 infores:clingen NCBIGene:23133 MONDO:0010286 Definitive 2018-11-07T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9e94640-1950-4438-bcda-4859545d83d1-2018-11-07T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9531 biolink:gene_associated_with_condition MONDO:0013061 infores:ubergraph knowledge_assertion manual_agent HGNC:939 MONDO:0013061 NCBIGene:2303 biolink:gene_associated_with_condition MONDO:0007922 infores:clingen NCBIGene:2303 MONDO:0007922 Definitive 2024-01-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_757840b2-8b39-44d0-aff9-dd9983e77d0f-2024-01-24T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:246243 biolink:gene_associated_with_condition MONDO:0014656 infores:ubergraph knowledge_assertion manual_agent HGNC:18466 MONDO:0014656 NCBIGene:6899 biolink:gene_associated_with_condition MONDO:0008644 infores:clingen NCBIGene:6899 MONDO:0008644 true Little evidence for dosage pathogenicity 1 NCBIGene:57094 biolink:gene_associated_with_condition MONDO:0013741 infores:ubergraph knowledge_assertion manual_agent HGNC:17245 MONDO:0013741 NCBIGene:55687 biolink:gene_associated_with_condition MONDO:0013111 infores:ubergraph knowledge_assertion manual_agent HGNC:25481 MONDO:0013111 NCBIGene:56244 biolink:gene_associated_with_condition MONDO:0012888 infores:ubergraph knowledge_assertion manual_agent HGNC:1142 MONDO:0012888 NCBIGene:10082 biolink:gene_associated_with_condition MONDO:0009779 infores:clingen NCBIGene:10082 MONDO:0009779 Gene associated with autosomal recessive phenotype 30 NCBIGene:2010 biolink:gene_associated_with_condition MONDO:0100531 infores:ubergraph knowledge_assertion manual_agent HGNC:3331 MONDO:0100531 NCBIGene:4524 biolink:gene_associated_with_condition MONDO:0009353 infores:ubergraph knowledge_assertion manual_agent HGNC:7436 MONDO:0009353 NCBIGene:7168 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:12010 MONDO:0005021 Moderate 2025-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1173d239-23cf-4c9c-9ea5-f95d9356e6c7-2025-04-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:56155 biolink:gene_associated_with_condition MONDO:0054727 infores:ubergraph knowledge_assertion manual_agent HGNC:11737 MONDO:0054727 NCBIGene:10717 biolink:gene_associated_with_condition MONDO:0013551 infores:ubergraph knowledge_assertion manual_agent HGNC:572 MONDO:0013551 NCBIGene:4668 biolink:gene_associated_with_condition MONDO:0017779 infores:clingen HGNC:7631 MONDO:0017779 Definitive 2022-09-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94962878-05e3-4cc0-a6d7-e9cd86f49b1d-2022-09-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79803 biolink:gene_associated_with_condition MONDO:0013558 infores:clingen HGNC:18817 MONDO:0013558 Definitive 2020-11-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_602ae8f1-9e7f-4cc6-bf70-d572d98828c5-2020-11-25T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6853 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6853 MONDO:0700096 No evidence available 0 true NCBIGene:11200 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:16627 MONDO:0018630 Limited 2017-03-13T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9862 AD Autosomal Dominant 0000006 NCBIGene:27040 biolink:gene_associated_with_condition MONDO:0044721 infores:ubergraph knowledge_assertion manual_agent HGNC:18874 MONDO:0044721 NCBIGene:11128 biolink:gene_associated_with_condition MONDO:0700276 infores:clingen HGNC:30074 MONDO:0700276 Definitive 2024-08-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae31bb4b-43af-4516-9f23-af2fd40a732d-2024-08-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:157922 biolink:gene_associated_with_condition MONDO:0957217 infores:ubergraph knowledge_assertion manual_agent HGNC:19946 MONDO:0957217 NCBIGene:3251 biolink:gene_associated_with_condition MONDO:0010299 infores:ubergraph knowledge_assertion manual_agent HGNC:5157 MONDO:0010299 NCBIGene:701 biolink:gene_associated_with_condition MONDO:0009759 infores:clingen NCBIGene:701 MONDO:0009759 Definitive 2019-11-22T14:53:26.352Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59147f27-d5a3-4760-ba8d-0429bae3c906-2019-11-22T145326.352Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6575 biolink:gene_associated_with_condition MONDO:0024538 infores:ubergraph knowledge_assertion manual_agent HGNC:10947 MONDO:0024538 NCBIGene:7015 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7015 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:26047 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26047 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:9203 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:9203 MONDO:0100038 true No evidence available 0 NCBIGene:23765 biolink:gene_associated_with_condition MONDO:0013500 infores:clingen NCBIGene:23765 MONDO:0013500 Gene associated with autosomal recessive phenotype 30 NCBIGene:125336 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26521 MONDO:0019497 Definitive 2018-05-08T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a35c0909-7546-465c-a069-47e901fce483-2018-05-08T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3617 biolink:gene_associated_with_condition MONDO:1040037 infores:ubergraph knowledge_assertion manual_agent HGNC:6055 MONDO:1040037 NCBIGene:695 biolink:gene_associated_with_condition MONDO:0010615 infores:ubergraph knowledge_assertion manual_agent HGNC:1133 MONDO:0010615 NCBIGene:341208 biolink:gene_associated_with_condition MONDO:0009871 infores:clingen HGNC:30477 MONDO:0009871 Limited 2025-03-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8c2c601-82c8-44ed-b5ee-c86fa28db40a-2025-03-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8772 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8772 MONDO:0700096 No evidence available 0 true NCBIGene:51062 biolink:gene_associated_with_condition MONDO:0008437 infores:ubergraph knowledge_assertion manual_agent HGNC:11231 MONDO:0008437 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:7576 MONDO:0005045 Disputed 2023-07-12T02:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee5380a4-0dee-49aa-b911-141502648144-2023-07-12T020000.000Z AD Autosomal Dominant 0000006 NCBIGene:1829 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen NCBIGene:1829 MONDO:0016587 Definitive 2018-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f679611d-6e25-45f9-aac3-4a8ad37b1592-2018-09-14T160000.000Z AD Autosomal Dominant 0000006 Some evidence for dosage pathogenicity 2 NCBIGene:55343 biolink:gene_associated_with_condition MONDO:0009953 infores:clingen NCBIGene:55343 MONDO:0009953 Gene associated with autosomal recessive phenotype 30 NCBIGene:7123 biolink:gene_associated_with_condition MONDO:0859568 infores:ubergraph knowledge_assertion manual_agent HGNC:11891 MONDO:0859568 NCBIGene:8294 biolink:gene_associated_with_condition MONDO:0031000 infores:ubergraph knowledge_assertion manual_agent HGNC:4793 MONDO:0031000 NCBIGene:9451 biolink:gene_associated_with_condition MONDO:0009192 infores:ubergraph knowledge_assertion manual_agent HGNC:3255 MONDO:0009192 NCBIGene:22999 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22999 MONDO:0700096 No evidence available 0 true NCBIGene:54209 biolink:gene_associated_with_condition MONDO:0014036 infores:ubergraph knowledge_assertion manual_agent HGNC:17761 MONDO:0014036 NCBIGene:5395 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:9122 MONDO:0016419 Disputed 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_308d8362-7bd9-46a7-b2fa-ab8f671a44c9-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:3418 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:5383 MONDO:0044970 Definitive 2023-01-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91787b5b-8185-48e6-a437-9162c039b454-2023-01-30T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6660 biolink:gene_associated_with_condition MONDO:0014778 infores:ubergraph knowledge_assertion manual_agent HGNC:11201 MONDO:0014778 NCBIGene:9071 biolink:gene_associated_with_condition MONDO:0060564 infores:ubergraph knowledge_assertion manual_agent HGNC:2033 MONDO:0060564 NCBIGene:11285 biolink:gene_associated_with_condition MONDO:0020682 infores:ubergraph knowledge_assertion manual_agent HGNC:930 MONDO:0020682 NCBIGene:25778 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:29043 MONDO:0015150 Moderate 2023-09-29T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbac4423-e313-4694-a7ac-2005164ea832-2023-09-29T023000.000Z AR Autosomal Recessive 0000007 NCBIGene:4043 biolink:gene_associated_with_condition MONDO:0014183 infores:clingen NCBIGene:4043 MONDO:0014183 Gene associated with autosomal recessive phenotype 30 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:60 MONDO:0000508 true No evidence available 0 NCBIGene:6334 biolink:gene_associated_with_condition MONDO:0013680 infores:ubergraph knowledge_assertion manual_agent HGNC:10596 MONDO:0013680 NCBIGene:5978 biolink:gene_associated_with_condition MONDO:0033493 infores:ubergraph knowledge_assertion manual_agent HGNC:9966 MONDO:0033493 NCBIGene:10466 biolink:gene_associated_with_condition MONDO:0013325 infores:clingen HGNC:14857 MONDO:0013325 Definitive 2024-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0104222e-f6a3-445c-becb-b45fa0f7f108-2024-12-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79092 biolink:gene_associated_with_condition MONDO:0008251 infores:ubergraph knowledge_assertion manual_agent HGNC:16446 MONDO:0008251 NCBIGene:1183 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen NCBIGene:1183 MONDO:0019181 Definitive 2017-10-20T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54fbcbc8-77d7-4496-8527-1171cdd7452c-2017-10-20T100000.000Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:5279 biolink:gene_associated_with_condition MONDO:0040500 infores:clingen HGNC:8960 MONDO:0040500 Limited 2025-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f6b91a8-0806-4cb2-88a3-57b5bb4a9b88-2025-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6602 biolink:gene_associated_with_condition MONDO:0032912 infores:ubergraph knowledge_assertion manual_agent HGNC:11106 MONDO:0032912 NCBIGene:51434 biolink:gene_associated_with_condition MONDO:0859220 infores:ubergraph knowledge_assertion manual_agent HGNC:17380 MONDO:0859220 NCBIGene:6885 biolink:gene_associated_with_condition MONDO:0008005 infores:ubergraph knowledge_assertion manual_agent HGNC:6859 MONDO:0008005 NCBIGene:1687 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2810 MONDO:0019497 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b0a844b-f968-48e0-8940-35584eb3454b-2017-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3575 biolink:gene_associated_with_condition MONDO:0012163 infores:ubergraph knowledge_assertion manual_agent HGNC:6024 MONDO:0012163 NCBIGene:8792 biolink:gene_associated_with_condition MONDO:0012859 infores:ubergraph knowledge_assertion manual_agent HGNC:11908 MONDO:0012859 NCBIGene:1063 biolink:gene_associated_with_condition MONDO:0009477 infores:ubergraph knowledge_assertion manual_agent HGNC:1857 MONDO:0009477 NCBIGene:259236 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:30800 MONDO:0019497 Definitive 2017-09-29T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b025a472-0a48-469c-a5f3-70df12ade334-2017-09-29T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:8942 biolink:gene_associated_with_condition MONDO:0009372 infores:ubergraph knowledge_assertion manual_agent HGNC:6469 MONDO:0009372 NCBIGene:5788 biolink:gene_associated_with_condition MONDO:0800104 infores:ubergraph knowledge_assertion manual_agent HGNC:9666 MONDO:0800104 NCBIGene:4683 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:7652 MONDO:0016419 Refuted 2023-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc101ed8-f6ae-49b8-8850-384da62eb9b9-2023-03-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:80207 biolink:gene_associated_with_condition MONDO:0008133 infores:clingen HGNC:8142 MONDO:0008133 Moderate 2024-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43fa9b49-eca7-44a2-a767-c35ac42cf62f-2024-04-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2623 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2623 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7280 biolink:gene_associated_with_condition MONDO:0014337 infores:ubergraph knowledge_assertion manual_agent HGNC:12412 MONDO:0014337 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0700228 infores:ubergraph knowledge_assertion manual_agent HGNC:6697 MONDO:0700228 NCBIGene:388558 biolink:gene_associated_with_condition MONDO:0975839 infores:ubergraph knowledge_assertion manual_agent HGNC:33230 MONDO:0975839 NCBIGene:26121 biolink:gene_associated_with_condition MONDO:0800395 infores:clingen HGNC:15446 MONDO:0800395 Definitive 2022-07-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81f354cf-29c2-4955-a09d-735463f16a35-2022-07-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:57647 biolink:gene_associated_with_condition MONDO:8000015 infores:ubergraph knowledge_assertion manual_agent HGNC:17210 MONDO:8000015 NCBIGene:1421 biolink:gene_associated_with_condition MONDO:0007281 infores:ubergraph knowledge_assertion manual_agent HGNC:2411 MONDO:0007281 NCBIGene:55072 biolink:gene_associated_with_condition MONDO:0957981 infores:clingen HGNC:16031 MONDO:0957981 Moderate 2025-01-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_432d521f-5d7b-47e7-9f4f-26466e04a4fa-2025-01-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:222663 biolink:gene_associated_with_condition MONDO:0030953 infores:ubergraph knowledge_assertion manual_agent HGNC:13655 MONDO:0030953 NCBIGene:220 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:220 MONDO:0700096 No evidence available 0 true NCBIGene:54862 biolink:gene_associated_with_condition MONDO:0012037 infores:ubergraph knowledge_assertion manual_agent HGNC:30237 MONDO:0012037 NCBIGene:5621 biolink:gene_associated_with_condition MONDO:0009500 infores:ubergraph knowledge_assertion manual_agent HGNC:9449 MONDO:0009500 NCBIGene:5972 biolink:gene_associated_with_condition MONDO:0009970 infores:clingen HGNC:9958 MONDO:0009970 Definitive 2020-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a9a43c4-771a-4a73-b66f-dd99ab76aeec-2020-10-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8243 biolink:gene_associated_with_condition MONDO:0026771 infores:ubergraph knowledge_assertion manual_agent HGNC:11111 MONDO:0026771 NCBIGene:10382 biolink:gene_associated_with_condition MONDO:0800470 infores:clingen HGNC:20774 MONDO:0800470 Definitive 2024-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37d63695-b5d4-48e2-8c20-38cfafaea017-2024-03-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9244 biolink:gene_associated_with_condition MONDO:0010091 infores:ubergraph knowledge_assertion manual_agent HGNC:2364 MONDO:0010091 NCBIGene:26353 biolink:gene_associated_with_condition MONDO:0015362 infores:clingen HGNC:30171 MONDO:0015362 Definitive 2021-03-22T20:18:55.441Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_044a2465-8e0a-44ff-8d00-1ec3a76183c8-2021-03-22T201855.441Z AD Autosomal Dominant 0000006 NCBIGene:5538 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5538 MONDO:0700096 No evidence available 0 true NCBIGene:55901 biolink:gene_associated_with_condition MONDO:0859379 infores:ubergraph knowledge_assertion manual_agent HGNC:17754 MONDO:0859379 NCBIGene:7862 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:14255 MONDO:0800439 Definitive 2025-04-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca6ab404-7df4-475b-bb61-b056716dce7b-2025-04-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1524 biolink:gene_associated_with_condition MONDO:0011817 infores:ubergraph knowledge_assertion manual_agent HGNC:2558 MONDO:0011817 NCBIGene:54344 biolink:gene_associated_with_condition MONDO:0013049 infores:ubergraph knowledge_assertion manual_agent HGNC:3007 MONDO:0013049 NCBIGene:3579 biolink:gene_associated_with_condition MONDO:0018487 infores:ubergraph knowledge_assertion manual_agent HGNC:6027 MONDO:0018487 NCBIGene:2645 biolink:gene_associated_with_condition MONDO:0011236 infores:ubergraph knowledge_assertion manual_agent HGNC:4195 MONDO:0011236 NCBIGene:7066 biolink:gene_associated_with_condition MONDO:0957572 infores:ubergraph knowledge_assertion manual_agent HGNC:11795 MONDO:0957572 NCBIGene:51111 biolink:gene_associated_with_condition MONDO:0030917 infores:ubergraph knowledge_assertion manual_agent HGNC:24283 MONDO:0030917 NCBIGene:27151 biolink:gene_associated_with_condition MONDO:0015017 infores:clingen HGNC:23228 MONDO:0015017 Definitive 2022-11-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc4d2b2a-08d6-4869-a56e-55721fd4c9dc-2022-11-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1272 biolink:gene_associated_with_condition MONDO:0012929 infores:ubergraph knowledge_assertion manual_agent HGNC:2171 MONDO:0012929 NCBIGene:6720 biolink:gene_associated_with_condition MONDO:0008017 infores:ubergraph knowledge_assertion manual_agent HGNC:11289 MONDO:0008017 NCBIGene:10586 biolink:gene_associated_with_condition MONDO:0014380 infores:clingen HGNC:6758 MONDO:0014380 Definitive 2023-07-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d89e935d-55fe-43f1-b2a3-d1f0eca74928-2023-07-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79001 biolink:gene_associated_with_condition MONDO:0011837 infores:ubergraph knowledge_assertion manual_agent HGNC:23663 MONDO:0011837 NCBIGene:3141 biolink:gene_associated_with_condition MONDO:0009666 infores:clingen NCBIGene:3141 MONDO:0009666 Definitive 2021-02-26T17:11:31.548Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad306285-9588-48e3-a6fa-183db3f01fe9-2021-02-26T171131.548Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10381 biolink:gene_associated_with_condition MONDO:0013541 infores:ubergraph knowledge_assertion manual_agent HGNC:20772 MONDO:0013541 NCBIGene:84572 biolink:gene_associated_with_condition MONDO:0009652 infores:clingen HGNC:23026 MONDO:0009652 Definitive 2022-12-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71d1d916-4c96-4d09-a66b-1c7ccb55c353-2022-12-28T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:196527 biolink:gene_associated_with_condition MONDO:0009885 infores:clingen HGNC:25240 MONDO:0009885 Moderate 2025-06-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2d3c125-1938-4295-82bb-b2851a3b2c8d-2025-06-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1188 biolink:gene_associated_with_condition MONDO:0011822 infores:clingen NCBIGene:1188 MONDO:0011822 Gene associated with autosomal recessive phenotype 30 NCBIGene:326625 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:326625 MONDO:0700096 No evidence available 0 true NCBIGene:755 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:1260 MONDO:0004976 Limited 2023-12-12T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bde7edf1-ccfa-443e-a917-cf3d2dd9cba6-2023-12-12T180000.000Z SD Semidominant 0032113 NCBIGene:3172 biolink:gene_associated_with_condition MONDO:0007452 infores:ubergraph knowledge_assertion manual_agent HGNC:5024 MONDO:0007452 NCBIGene:55904 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:18541 MONDO:0100038 Definitive 2022-08-02T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d0a0603-e446-4bb9-a202-4f8066a60c5a-2022-08-02T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:55172 biolink:gene_associated_with_condition MONDO:0012918 infores:ubergraph knowledge_assertion manual_agent HGNC:20188 MONDO:0012918 NCBIGene:84876 biolink:gene_associated_with_condition MONDO:0008051 infores:clingen HGNC:25896 MONDO:0008051 Definitive 2020-07-13T16:49:19.164Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a-2020-07-13T164919.164Z AD Autosomal Dominant 0000006 NCBIGene:8295 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:8295 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:55191 biolink:gene_associated_with_condition MONDO:0030077 infores:ubergraph knowledge_assertion manual_agent HGNC:29832 MONDO:0030077 NCBIGene:3459 biolink:gene_associated_with_condition MONDO:0010853 infores:ubergraph knowledge_assertion manual_agent HGNC:5439 MONDO:0010853 NCBIGene:2643 biolink:gene_associated_with_condition MONDO:0007495 infores:clingen NCBIGene:2643 MONDO:0007495 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6390 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6390 MONDO:0700096 No evidence available 0 true NCBIGene:5159 biolink:gene_associated_with_condition MONDO:0014704 infores:ubergraph knowledge_assertion manual_agent HGNC:8804 MONDO:0014704 NCBIGene:84668 biolink:gene_associated_with_condition MONDO:0012514 infores:clingen HGNC:24587 MONDO:0012514 Definitive 2025-03-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1717e62b-6b1e-47fd-a335-de3fd597f7a4-2025-03-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3909 biolink:gene_associated_with_condition MONDO:0030746 infores:ubergraph knowledge_assertion manual_agent HGNC:6483 MONDO:0030746 NCBIGene:6201 biolink:gene_associated_with_condition MONDO:0012939 infores:ubergraph knowledge_assertion manual_agent HGNC:10440 MONDO:0012939 NCBIGene:6445 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:10809 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc0d70af-ecb5-4755-a840-9e8bb6f4e0a7-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3860 biolink:gene_associated_with_condition MONDO:0014346 infores:ubergraph knowledge_assertion manual_agent HGNC:6415 MONDO:0014346 NCBIGene:1001 biolink:gene_associated_with_condition MONDO:0009155 infores:clingen HGNC:1762 MONDO:0009155 Definitive 2021-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5791d618-93bf-4517-9c60-48e6490319a6-2021-08-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6938 biolink:gene_associated_with_condition MONDO:0030534 infores:ubergraph knowledge_assertion manual_agent HGNC:11623 MONDO:0030534 NCBIGene:11153 biolink:gene_associated_with_condition MONDO:0975746 infores:ubergraph knowledge_assertion manual_agent HGNC:18416 MONDO:0975746 NCBIGene:3920 biolink:gene_associated_with_condition MONDO:0010281 infores:ubergraph knowledge_assertion manual_agent HGNC:6501 MONDO:0010281 NCBIGene:2132 biolink:gene_associated_with_condition MONDO:0007586 infores:ubergraph knowledge_assertion manual_agent HGNC:3513 MONDO:0007586 NCBIGene:54795 biolink:gene_associated_with_condition MONDO:0011474 infores:ubergraph knowledge_assertion manual_agent HGNC:17993 MONDO:0011474 NCBIGene:2593 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2593 MONDO:0700096 No evidence available 0 true NCBIGene:4311 biolink:gene_associated_with_condition MONDO:0014867 infores:ubergraph knowledge_assertion manual_agent HGNC:7154 MONDO:0014867 NCBIGene:55149 biolink:gene_associated_with_condition MONDO:0013354 infores:ubergraph knowledge_assertion manual_agent HGNC:25532 MONDO:0013354 NCBIGene:57107 biolink:gene_associated_with_condition MONDO:0013838 infores:ubergraph knowledge_assertion manual_agent HGNC:23041 MONDO:0013838 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0007764 infores:ubergraph knowledge_assertion manual_agent HGNC:6697 MONDO:0007764 NCBIGene:1476 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1476 MONDO:0700096 No evidence available 0 true NCBIGene:9939 biolink:gene_associated_with_condition MONDO:0010121 infores:clingen HGNC:9905 MONDO:0010121 Definitive 2020-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56c276a7-3068-48db-9baa-6f178eb9c3a7-2020-05-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7454 biolink:gene_associated_with_condition MONDO:0010294 infores:clingen HGNC:12731 MONDO:0010294 Definitive 2021-11-18T17:10:12.085Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49c66050-ab36-4359-8d78-b7ba5bef80d2-2021-11-18T171012.085Z XL X-linked 0001417 NCBIGene:6662 biolink:gene_associated_with_condition MONDO:0007134 infores:clingen HGNC:11204 MONDO:0007134 Limited 2020-09-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1fdeca1-a725-4ccb-a7f6-e77c2d6158aa-2020-09-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9401 biolink:gene_associated_with_condition MONDO:0009955 infores:ubergraph knowledge_assertion manual_agent HGNC:9949 MONDO:0009955 NCBIGene:162417 biolink:gene_associated_with_condition MONDO:0009377 infores:clingen HGNC:17996 MONDO:0009377 Definitive 2019-07-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33dcead1-e3d9-4427-98fd-05a655c8c213-2019-07-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:27086 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3823 MONDO:0005453 Disputed 2023-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0d2a272-afc2-49df-aa73-0b2f82ce11d6-2023-12-11T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8085 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8085 MONDO:0700096 No evidence available 0 true NCBIGene:2033 biolink:gene_associated_with_condition MONDO:0013364 infores:clingen NCBIGene:2033 MONDO:0013364 Definitive 2022-05-20T04:40:17.803Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5559f540-f08e-4446-bc8b-a241bb3a4a8e-2022-05-20T044017.803Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1107 biolink:gene_associated_with_condition MONDO:0032600 infores:clingen HGNC:1918 MONDO:0032600 Definitive 2022-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e94c7c1-9c13-4189-8a9f-e9808916526f-2022-03-02T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:29927 biolink:gene_associated_with_condition MONDO:0100337 infores:clingen HGNC:18276 MONDO:0100337 Moderate 2021-07-27T15:48:37.287Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ff61d15-19f9-42a2-8dc4-0a4071b562eb-2021-07-27T154837.287Z AD Autosomal Dominant 0000006 NCBIGene:10161 biolink:gene_associated_with_condition MONDO:0010206 infores:ubergraph knowledge_assertion manual_agent HGNC:15520 MONDO:0010206 NCBIGene:285362 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:285362 MONDO:0700096 No evidence available 0 true NCBIGene:3651 biolink:gene_associated_with_condition MONDO:0024547 infores:clingen NCBIGene:3651 MONDO:0024547 Definitive 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76ea8c1e-88ba-436a-8eca-0de131027033-2022-06-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:11279 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11279 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:653509 biolink:gene_associated_with_condition MONDO:0030608 infores:clingen HGNC:10798 MONDO:0030608 Moderate 2025-01-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c3d8e40-6ec1-4fb0-8a30-ce4f1e33dbdf-2025-01-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:55811 biolink:gene_associated_with_condition MONDO:0007748 infores:ubergraph knowledge_assertion manual_agent HGNC:21285 MONDO:0007748 NCBIGene:80184 biolink:gene_associated_with_condition MONDO:0015369 infores:clingen NCBIGene:80184 MONDO:0015369 Gene associated with autosomal recessive phenotype 30 NCBIGene:56052 biolink:gene_associated_with_condition MONDO:0012052 infores:clingen NCBIGene:56052 MONDO:0012052 Definitive 2024-08-07T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98d42afb-c5ce-4518-83ce-aab777f202e6-2024-08-07T190000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9445 biolink:gene_associated_with_condition MONDO:0008306 infores:ubergraph knowledge_assertion manual_agent HGNC:6174 MONDO:0008306 NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010283 infores:clingen NCBIGene:4204 MONDO:0010283 No evidence available 0 true NCBIGene:137492 biolink:gene_associated_with_condition MONDO:0013962 infores:clingen NCBIGene:137492 MONDO:0013962 Gene associated with autosomal recessive phenotype 30 NCBIGene:342618 biolink:gene_associated_with_condition MONDO:0014830 infores:ubergraph knowledge_assertion manual_agent HGNC:32689 MONDO:0014830 NCBIGene:23064 biolink:gene_associated_with_condition MONDO:0018894 infores:clingen HGNC:445 MONDO:0018894 Definitive 2022-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f355b8f-1cd9-401c-8f34-b9b3e2fe939b-2022-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9373 biolink:gene_associated_with_condition MONDO:0060502 infores:ubergraph knowledge_assertion manual_agent HGNC:9043 MONDO:0060502 NCBIGene:220296 biolink:gene_associated_with_condition MONDO:0013491 infores:clingen HGNC:26361 MONDO:0013491 Definitive 2023-01-12T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da28582-9929-4fcd-8c77-13dc1705b168-2023-01-12T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:197135 biolink:gene_associated_with_condition MONDO:0021575 infores:ubergraph knowledge_assertion manual_agent HGNC:33630 MONDO:0021575 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0007268 infores:ubergraph knowledge_assertion manual_agent HGNC:7551 MONDO:0007268 NCBIGene:3162 biolink:gene_associated_with_condition MONDO:0013536 infores:clingen HGNC:5013 MONDO:0013536 Strong 2023-12-20T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f1a1080-6e62-4c89-9500-e5c74e078e06-2023-12-20T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:79796 biolink:gene_associated_with_condition MONDO:0700000 infores:ubergraph knowledge_assertion manual_agent HGNC:15672 MONDO:0700000 NCBIGene:4158 biolink:gene_associated_with_condition MONDO:0024536 infores:ubergraph knowledge_assertion manual_agent HGNC:6930 MONDO:0024536 NCBIGene:580 biolink:gene_associated_with_condition MONDO:0700267 infores:ubergraph knowledge_assertion manual_agent HGNC:952 MONDO:0700267 NCBIGene:1545 biolink:gene_associated_with_condition MONDO:0800472 infores:clingen HGNC:2597 MONDO:0800472 Definitive 2023-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_107502fc-115b-4ee0-ba83-7081a17d1ebc-2023-01-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1605 biolink:gene_associated_with_condition MONDO:0018282 infores:clingen HGNC:2666 MONDO:0018282 Definitive 2024-08-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b73fd7-5578-447b-9482-ea64d62dae1d-2024-08-13T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:4719 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7707 MONDO:0009723 Definitive 2019-06-20T16:17:18.750Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6995e66-f840-485a-a635-b64cb9f45cd9-2019-06-20T161718.750Z AR Autosomal Recessive 0000007 NCBIGene:368 biolink:gene_associated_with_condition MONDO:0008333 infores:ubergraph knowledge_assertion manual_agent HGNC:57 MONDO:0008333 NCBIGene:65057 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:65057 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:959 biolink:gene_associated_with_condition MONDO:0010626 infores:ubergraph knowledge_assertion manual_agent HGNC:11935 MONDO:0010626 NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2697 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:54675 biolink:gene_associated_with_condition MONDO:0859337 infores:ubergraph knowledge_assertion manual_agent HGNC:16148 MONDO:0859337 NCBIGene:242 biolink:gene_associated_with_condition MONDO:0009439 infores:ubergraph knowledge_assertion manual_agent HGNC:430 MONDO:0009439 NCBIGene:1261 biolink:gene_associated_with_condition MONDO:0800102 infores:ubergraph knowledge_assertion manual_agent HGNC:2150 MONDO:0800102 NCBIGene:23613 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:9397 MONDO:0800439 Strong 2025-02-19T09:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80ea192b-6a1f-4836-a217-cc13f6130317-2025-02-19T090000.000Z AD Autosomal Dominant 0000006 NCBIGene:6442 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:10805 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e60e8b70-857e-4dae-bc45-da7db0dd5bf1-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84570 biolink:gene_associated_with_condition MONDO:0014538 infores:ubergraph knowledge_assertion manual_agent HGNC:18603 MONDO:0014538 NCBIGene:1678 biolink:gene_associated_with_condition MONDO:0010578 infores:ubergraph knowledge_assertion manual_agent HGNC:11817 MONDO:0010578 NCBIGene:3394 biolink:gene_associated_with_condition MONDO:0013957 infores:ubergraph knowledge_assertion manual_agent HGNC:5358 MONDO:0013957 NCBIGene:116228 biolink:gene_associated_with_condition MONDO:0033645 infores:ubergraph knowledge_assertion manual_agent HGNC:26970 MONDO:0033645 NCBIGene:6234 biolink:gene_associated_with_condition MONDO:0011639 infores:ubergraph knowledge_assertion manual_agent HGNC:10418 MONDO:0011639 NCBIGene:220296 biolink:gene_associated_with_condition MONDO:0013490 infores:clingen HGNC:26361 MONDO:0013490 Definitive 2023-01-12T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7917eeb8-f47a-4828-80ce-ba18f697c6a0-2023-01-12T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:9839 biolink:gene_associated_with_condition MONDO:0009341 infores:ubergraph knowledge_assertion manual_agent HGNC:14881 MONDO:0009341 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0008702 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0008702 NCBIGene:617 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:617 MONDO:0700096 No evidence available 0 true NCBIGene:7922 biolink:gene_associated_with_condition MONDO:0030519 infores:ubergraph knowledge_assertion manual_agent HGNC:4927 MONDO:0030519 NCBIGene:590 biolink:gene_associated_with_condition MONDO:0015270 infores:clingen NCBIGene:590 MONDO:0015270 Gene associated with autosomal recessive phenotype 30 NCBIGene:54902 biolink:gene_associated_with_condition MONDO:0014063 infores:ubergraph knowledge_assertion manual_agent HGNC:26006 MONDO:0014063 NCBIGene:3426 biolink:gene_associated_with_condition MONDO:0013041 infores:ubergraph knowledge_assertion manual_agent HGNC:5394 MONDO:0013041 NCBIGene:4478 biolink:gene_associated_with_condition MONDO:0010514 infores:clingen HGNC:7373 MONDO:0010514 Definitive 2023-01-19T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d65d1f9-be54-4e41-b8d7-c8a48e8c4146-2023-01-19T180000.000Z XL X-linked 0001417 NCBIGene:113179 biolink:gene_associated_with_condition MONDO:0014119 infores:clingen HGNC:25151 MONDO:0014119 Moderate 2025-09-15T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a9357c4-670e-498d-8e50-e58b08cff6cc-2025-09-15T220000.000Z AR Autosomal Recessive 0000007 NCBIGene:1910 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1910 MONDO:0700096 No evidence available 0 true NCBIGene:64072 biolink:gene_associated_with_condition MONDO:0010168 infores:clingen HGNC:13733 MONDO:0010168 Definitive 2017-01-30T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5610 AR Autosomal Recessive 0000007 NCBIGene:55250 biolink:gene_associated_with_condition MONDO:0014996 infores:ubergraph knowledge_assertion manual_agent HGNC:18248 MONDO:0014996 NCBIGene:55215 biolink:gene_associated_with_condition MONDO:0012186 infores:clingen HGNC:25568 MONDO:0012186 Definitive 2021-06-15T23:38:41.081Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a103db2f-a8b3-403b-993a-ac4215c118df-2021-06-15T233841.081Z AR Autosomal Recessive 0000007 NCBIGene:51761 biolink:gene_associated_with_condition MONDO:0009133 infores:clingen HGNC:13533 MONDO:0009133 Definitive 2025-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6919cb8-703a-4f80-932b-2238f7bc08d6-2025-04-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:779 biolink:gene_associated_with_condition MONDO:0008570 infores:ubergraph knowledge_assertion manual_agent HGNC:1397 MONDO:0008570 NCBIGene:284098 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:284098 MONDO:0700096 No evidence available 0 true NCBIGene:5836 biolink:gene_associated_with_condition MONDO:0009294 infores:clingen HGNC:9725 MONDO:0009294 Definitive 2024-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_268f120a-bd36-4de2-9f85-871a307f44af-2024-09-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9639 biolink:gene_associated_with_condition MONDO:0011998 infores:clingen HGNC:14103 MONDO:0011998 Limited 2020-10-05T16:04:23.090Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23121f9-57e1-48ac-a2bc-d5a293829530-2020-10-05T160423.090Z AD Autosomal Dominant 0000006 NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0013826 infores:ubergraph knowledge_assertion manual_agent HGNC:29203 MONDO:0013826 NCBIGene:2642 biolink:gene_associated_with_condition MONDO:0018582 infores:ubergraph knowledge_assertion manual_agent HGNC:4192 MONDO:0018582 NCBIGene:6389 biolink:gene_associated_with_condition MONDO:0013602 infores:ubergraph knowledge_assertion manual_agent HGNC:10680 MONDO:0013602 NCBIGene:154197 biolink:gene_associated_with_condition MONDO:0030439 infores:ubergraph knowledge_assertion manual_agent HGNC:21185 MONDO:0030439 NCBIGene:525 biolink:gene_associated_with_condition MONDO:0009968 infores:clingen HGNC:853 MONDO:0009968 Definitive 2017-12-19T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c74d3789-9cfc-4be3-b23d-baf610620e6c-2017-12-19T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:10312 biolink:gene_associated_with_condition MONDO:0009815 infores:ubergraph knowledge_assertion manual_agent HGNC:11647 MONDO:0009815 NCBIGene:182 biolink:gene_associated_with_condition MONDO:0016862 infores:ubergraph knowledge_assertion manual_agent HGNC:6188 MONDO:0016862 NCBIGene:64135 biolink:gene_associated_with_condition MONDO:0700262 infores:clingen HGNC:18873 MONDO:0700262 Definitive 2024-08-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34072c3f-58e6-49f8-9515-7f7dfc74ed2e-2024-08-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:56623 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:56623 MONDO:0700096 No evidence available 0 true NCBIGene:9698 biolink:gene_associated_with_condition MONDO:0958231 infores:ubergraph knowledge_assertion manual_agent HGNC:14957 MONDO:0958231 NCBIGene:1200 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:2073 MONDO:0016295 Definitive 2020-09-26T00:53:42.102Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5-2020-09-26T005342.102Z AR Autosomal Recessive 0000007 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0017579 infores:clingen HGNC:132 MONDO:0017579 Definitive 2021-10-26T16:58:35.977Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa13dfad-ab93-4521-874a-5ede8f608fe4-2021-10-26T165835.977Z AD Autosomal Dominant 0000006 NCBIGene:25974 biolink:gene_associated_with_condition MONDO:0010184 infores:clingen NCBIGene:25974 MONDO:0010184 Definitive 2020-06-29T17:43:03.503Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6feb4bda-539f-4592-acaf-26dc186e953a-2020-06-29T174303.503Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:84300 biolink:gene_associated_with_condition MONDO:0014356 infores:ubergraph knowledge_assertion manual_agent HGNC:21237 MONDO:0014356 NCBIGene:84196 biolink:gene_associated_with_condition MONDO:0859366 infores:ubergraph knowledge_assertion manual_agent HGNC:18533 MONDO:0859366 NCBIGene:7015 biolink:gene_associated_with_condition MONDO:0013521 infores:ubergraph knowledge_assertion manual_agent HGNC:11730 MONDO:0013521 NCBIGene:2741 biolink:gene_associated_with_condition MONDO:0007868 infores:ubergraph knowledge_assertion manual_agent HGNC:4326 MONDO:0007868 NCBIGene:388698 biolink:gene_associated_with_condition MONDO:0054852 infores:ubergraph knowledge_assertion manual_agent HGNC:33276 MONDO:0054852 NCBIGene:271 biolink:gene_associated_with_condition MONDO:0014351 infores:ubergraph knowledge_assertion manual_agent HGNC:469 MONDO:0014351 NCBIGene:57539 biolink:gene_associated_with_condition MONDO:0013323 infores:ubergraph knowledge_assertion manual_agent HGNC:29250 MONDO:0013323 NCBIGene:785 biolink:gene_associated_with_condition MONDO:0011892 infores:ubergraph knowledge_assertion manual_agent HGNC:1404 MONDO:0011892 NCBIGene:25929 biolink:gene_associated_with_condition MONDO:0859152 infores:clingen HGNC:20043 MONDO:0859152 Definitive 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51809985-ee18-429f-b804-96e7decb3d08-2023-09-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:203859 biolink:gene_associated_with_condition MONDO:0013222 infores:ubergraph knowledge_assertion manual_agent HGNC:27337 MONDO:0013222 NCBIGene:6899 biolink:gene_associated_with_condition MONDO:0008644 infores:ubergraph knowledge_assertion manual_agent HGNC:11592 MONDO:0008644 NCBIGene:57468 biolink:gene_associated_with_condition MONDO:0014734 infores:ubergraph knowledge_assertion manual_agent HGNC:13818 MONDO:0014734 NCBIGene:60482 biolink:gene_associated_with_condition MONDO:0014939 infores:ubergraph knowledge_assertion manual_agent HGNC:14025 MONDO:0014939 NCBIGene:5426 biolink:gene_associated_with_condition MONDO:0032684 infores:ubergraph knowledge_assertion manual_agent HGNC:9177 MONDO:0032684 NCBIGene:5339 biolink:gene_associated_with_condition MONDO:1060109 infores:ubergraph knowledge_assertion manual_agent HGNC:9069 MONDO:1060109 NCBIGene:10952 biolink:gene_associated_with_condition MONDO:0550003 infores:ubergraph knowledge_assertion manual_agent HGNC:16993 MONDO:0550003 NCBIGene:8854 biolink:gene_associated_with_condition MONDO:0859571 infores:ubergraph knowledge_assertion manual_agent HGNC:15472 MONDO:0859571 NCBIGene:1497 biolink:gene_associated_with_condition MONDO:0100151 infores:ubergraph knowledge_assertion manual_agent HGNC:2518 MONDO:0100151 NCBIGene:8022 biolink:gene_associated_with_condition MONDO:0009091 infores:clingen NCBIGene:8022 MONDO:0009091 Gene associated with autosomal recessive phenotype 30 NCBIGene:2335 biolink:gene_associated_with_condition MONDO:0008479 infores:clingen HGNC:3778 MONDO:0008479 Definitive 2024-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33f71829-1d1a-4d34-b2ff-1df63ec5d0b5-2024-03-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23236 biolink:gene_associated_with_condition MONDO:0013389 infores:ubergraph knowledge_assertion manual_agent HGNC:15917 MONDO:0013389 NCBIGene:60506 biolink:gene_associated_with_condition MONDO:0800407 infores:clingen HGNC:8082 MONDO:0800407 Definitive 2022-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c48083c5-2ef8-45ee-a97f-dc973d5d5072-2022-03-03T170000.000Z XL X-linked 0001417 NCBIGene:22954 biolink:gene_associated_with_condition MONDO:0009683 infores:clingen NCBIGene:22954 MONDO:0009683 Gene associated with autosomal recessive phenotype 30 NCBIGene:79718 biolink:gene_associated_with_condition MONDO:0014842 infores:ubergraph knowledge_assertion manual_agent HGNC:29529 MONDO:0014842 NCBIGene:2702 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:4279 MONDO:0005453 Disputed 2024-04-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8c3ec84-6459-406d-92a0-0ac98c243ae7-2024-04-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0024534 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0024534 NCBIGene:60681 biolink:gene_associated_with_condition MONDO:0009806 infores:ubergraph knowledge_assertion manual_agent HGNC:18169 MONDO:0009806 NCBIGene:274 biolink:gene_associated_with_condition MONDO:0009709 infores:ubergraph knowledge_assertion manual_agent HGNC:1052 MONDO:0009709 NCBIGene:9091 biolink:gene_associated_with_condition MONDO:0032808 infores:ubergraph knowledge_assertion manual_agent HGNC:14135 MONDO:0032808 NCBIGene:10522 biolink:gene_associated_with_condition MONDO:0800443 infores:ubergraph knowledge_assertion manual_agent HGNC:14677 MONDO:0800443 NCBIGene:56975 biolink:gene_associated_with_condition MONDO:0009821 infores:clingen NCBIGene:56975 MONDO:0009821 Gene associated with autosomal recessive phenotype 30 NCBIGene:220296 biolink:gene_associated_with_condition MONDO:0013491 infores:ubergraph knowledge_assertion manual_agent HGNC:26361 MONDO:0013491 NCBIGene:9343 biolink:gene_associated_with_condition MONDO:0012516 infores:clingen NCBIGene:9343 MONDO:0012516 Definitive 2022-07-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66012775-240c-4640-ac66-12647021eee5-2022-07-20T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22909 biolink:gene_associated_with_condition MONDO:0013898 infores:clingen NCBIGene:22909 MONDO:0013898 Gene associated with autosomal recessive phenotype 30 NCBIGene:55129 biolink:gene_associated_with_condition MONDO:0013392 infores:ubergraph knowledge_assertion manual_agent HGNC:25519 MONDO:0013392 NCBIGene:7044 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3122 MONDO:0005453 Disputed 2024-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b409905-0612-4f4a-88e1-2fd978cf4554-2024-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1496 biolink:gene_associated_with_condition MONDO:0032578 infores:ubergraph knowledge_assertion manual_agent HGNC:2510 MONDO:0032578 NCBIGene:10492 biolink:gene_associated_with_condition MONDO:0800456 infores:ubergraph knowledge_assertion manual_agent HGNC:16918 MONDO:0800456 NCBIGene:8924 biolink:gene_associated_with_condition MONDO:0014224 infores:ubergraph knowledge_assertion manual_agent HGNC:4868 MONDO:0014224 NCBIGene:253959 biolink:gene_associated_with_condition MONDO:0032921 infores:ubergraph knowledge_assertion manual_agent HGNC:17770 MONDO:0032921 NCBIGene:6389 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:10680 MONDO:0009723 Moderate 2019-05-20T19:09:35.665Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c5801d0-5839-47d9-81cc-a53cea959b57-2019-05-20T190935.665Z AR Autosomal Recessive 0000007 NCBIGene:4720 biolink:gene_associated_with_condition MONDO:0032611 infores:ubergraph knowledge_assertion manual_agent HGNC:7708 MONDO:0032611 NCBIGene:129880 biolink:gene_associated_with_condition MONDO:0014434 infores:clingen NCBIGene:129880 MONDO:0014434 Gene associated with autosomal recessive phenotype 30 NCBIGene:4361 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4361 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0100168 infores:ubergraph knowledge_assertion manual_agent HGNC:583 MONDO:0100168 NCBIGene:6948 biolink:gene_associated_with_condition MONDO:0010149 infores:ubergraph knowledge_assertion manual_agent HGNC:11653 MONDO:0010149 NCBIGene:3549 biolink:gene_associated_with_condition MONDO:0011907 infores:ubergraph knowledge_assertion manual_agent HGNC:5956 MONDO:0011907 NCBIGene:402569 biolink:gene_associated_with_condition MONDO:0957220 infores:ubergraph knowledge_assertion manual_agent HGNC:21839 MONDO:0957220 NCBIGene:2056 biolink:gene_associated_with_condition MONDO:0012962 infores:ubergraph knowledge_assertion manual_agent HGNC:3415 MONDO:0012962 NCBIGene:5805 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5805 MONDO:0700096 No evidence available 0 true NCBIGene:6231 biolink:gene_associated_with_condition MONDO:0013217 infores:ubergraph knowledge_assertion manual_agent HGNC:10414 MONDO:0013217 NCBIGene:915 biolink:gene_associated_with_condition MONDO:0014280 infores:ubergraph knowledge_assertion manual_agent HGNC:1673 MONDO:0014280 NCBIGene:347733 biolink:gene_associated_with_condition MONDO:0012399 infores:ubergraph knowledge_assertion manual_agent HGNC:30829 MONDO:0012399 NCBIGene:6578 biolink:gene_associated_with_condition MONDO:0013756 infores:ubergraph knowledge_assertion manual_agent HGNC:10955 MONDO:0013756 NCBIGene:4359 biolink:gene_associated_with_condition MONDO:0020765 infores:ubergraph knowledge_assertion manual_agent HGNC:7225 MONDO:0020765 NCBIGene:387 biolink:gene_associated_with_condition MONDO:0032884 infores:ubergraph knowledge_assertion manual_agent HGNC:667 MONDO:0032884 NCBIGene:6683 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6683 MONDO:0700096 No evidence available 0 true NCBIGene:79143 biolink:gene_associated_with_condition MONDO:0014962 infores:ubergraph knowledge_assertion manual_agent HGNC:15505 MONDO:0014962 NCBIGene:9200 biolink:gene_associated_with_condition MONDO:0019952 infores:clingen HGNC:9639 MONDO:0019952 Definitive 2021-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c52aaf-cd58-4448-bac7-12b653bfa962-2021-06-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7504 biolink:gene_associated_with_condition MONDO:0018945 infores:ubergraph knowledge_assertion manual_agent HGNC:12811 MONDO:0018945 NCBIGene:55768 biolink:gene_associated_with_condition MONDO:0800044 infores:clingen NCBIGene:55768 MONDO:0800044 Definitive 2022-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d9f5127-4673-4cc2-99b4-5f220274bc90-2022-10-18T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:112476 biolink:gene_associated_with_condition MONDO:0100556 infores:ubergraph knowledge_assertion manual_agent HGNC:30500 MONDO:0100556 NCBIGene:1629 biolink:gene_associated_with_condition MONDO:0009563 infores:clingen NCBIGene:1629 MONDO:0009563 Definitive 2018-10-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfd1ebde-e447-4877-977e-f5b9fe434adc-2018-10-30T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10492 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10492 MONDO:0700096 No evidence available 0 true NCBIGene:7299 biolink:gene_associated_with_condition MONDO:0008745 infores:ubergraph knowledge_assertion manual_agent HGNC:12442 MONDO:0008745 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007872 infores:clingen HGNC:3689 MONDO:0007872 Limited 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cce7558c-ec9c-4d2a-bff5-2c1646de955f-2022-06-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9578 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9578 MONDO:0700096 No evidence available 0 true NCBIGene:57176 biolink:gene_associated_with_condition MONDO:0014397 infores:ubergraph knowledge_assertion manual_agent HGNC:21642 MONDO:0014397 NCBIGene:8036 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:15454 MONDO:0009026 Disputed 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7035ea3-d556-4aa4-b525-5ed6c02866df-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54809 biolink:gene_associated_with_condition MONDO:0100628 infores:ubergraph knowledge_assertion manual_agent HGNC:1348 MONDO:0100628 NCBIGene:54496 biolink:gene_associated_with_condition MONDO:0014944 infores:ubergraph knowledge_assertion manual_agent HGNC:25557 MONDO:0014944 NCBIGene:6448 biolink:gene_associated_with_condition MONDO:0009655 infores:ubergraph knowledge_assertion manual_agent HGNC:10818 MONDO:0009655 NCBIGene:56052 biolink:gene_associated_with_condition MONDO:0012052 infores:ubergraph knowledge_assertion manual_agent HGNC:18294 MONDO:0012052 NCBIGene:7436 biolink:gene_associated_with_condition MONDO:0024542 infores:ubergraph knowledge_assertion manual_agent HGNC:12698 MONDO:0024542 NCBIGene:29078 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21034 MONDO:0044970 Definitive 2023-09-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71a1604a-d6dd-4385-a6be-663fe3c3a6d0-2023-09-06T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5375 biolink:gene_associated_with_condition MONDO:0033135 infores:ubergraph knowledge_assertion manual_agent HGNC:9117 MONDO:0033135 NCBIGene:8140 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:11063 MONDO:0100038 Moderate 2023-11-27T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8aa71559-4759-4254-b15e-4cbc4a7cbe13-2023-11-27T063000.000Z AR Autosomal Recessive 0000007 NCBIGene:57511 biolink:gene_associated_with_condition MONDO:0013810 infores:clingen HGNC:18621 MONDO:0013810 Definitive 2024-12-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_600a651b-6e68-40c0-a50e-f1067c5e87bb-2024-12-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:221927 biolink:gene_associated_with_condition MONDO:0013784 infores:ubergraph knowledge_assertion manual_agent HGNC:21701 MONDO:0013784 NCBIGene:3339 biolink:gene_associated_with_condition MONDO:0009717 infores:clingen NCBIGene:3339 MONDO:0009717 Gene associated with autosomal recessive phenotype 30 NCBIGene:1837 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:3057 MONDO:0005021 No Known Disease Relationship 2025-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdac9dca-0cc7-4cca-9af7-d2767d917fd4-2025-04-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:64218 biolink:gene_associated_with_condition MONDO:0012463 infores:ubergraph knowledge_assertion manual_agent HGNC:10729 MONDO:0012463 NCBIGene:3981 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3981 MONDO:0700096 No evidence available 0 true NCBIGene:25861 biolink:gene_associated_with_condition MONDO:0012662 infores:clingen HGNC:16361 MONDO:0012662 Definitive 2017-05-10T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8151 AR Autosomal Recessive 0000007 NCBIGene:894 biolink:gene_associated_with_condition MONDO:0014408 infores:ubergraph knowledge_assertion manual_agent HGNC:1583 MONDO:0014408 NCBIGene:4927 biolink:gene_associated_with_condition MONDO:0100104 infores:ubergraph knowledge_assertion manual_agent HGNC:8067 MONDO:0100104 NCBIGene:6926 biolink:gene_associated_with_condition MONDO:0008411 infores:ubergraph knowledge_assertion manual_agent HGNC:11602 MONDO:0008411 NCBIGene:26090 biolink:gene_associated_with_condition MONDO:0012984 infores:clingen NCBIGene:26090 MONDO:0012984 Definitive 2018-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccd68c20-2024-4239-be51-26697e19a6b4-2018-06-26T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7042 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:11768 MONDO:0019625 Definitive 2016-05-06T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8254 AD Autosomal Dominant 0000006 NCBIGene:7287 biolink:gene_associated_with_condition MONDO:0010827 infores:ubergraph knowledge_assertion manual_agent HGNC:12423 MONDO:0010827 NCBIGene:8120 biolink:gene_associated_with_condition MONDO:0015000 infores:ubergraph knowledge_assertion manual_agent HGNC:567 MONDO:0015000 NCBIGene:547 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:547 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6328 biolink:gene_associated_with_condition MONDO:0054776 infores:ubergraph knowledge_assertion manual_agent HGNC:10590 MONDO:0054776 NCBIGene:2201 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:3604 MONDO:0019625 Limited 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8268 AD Autosomal Dominant 0000006 NCBIGene:493856 biolink:gene_associated_with_condition MONDO:0011502 infores:ubergraph knowledge_assertion manual_agent HGNC:24212 MONDO:0011502 NCBIGene:675 biolink:gene_associated_with_condition MONDO:0011584 infores:clingen HGNC:1101 MONDO:0011584 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48faf04b-ffc4-4163-8570-22f5c29c4064-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0006573 infores:clingen HGNC:6636 MONDO:0006573 Definitive 2024-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a2725cf-2492-4f4d-8646-7a757cdac3dc-2024-10-09T160000.000Z SD Semidominant 0032113 NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:29203 MONDO:0019497 Limited 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd496a45-5ae0-4e56-8a3d-2c410a5bd0c8-2024-06-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79143 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:15505 MONDO:0100038 Definitive 2023-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea008bc0-1c4f-459c-adb9-0e646b50c340-2023-11-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:339829 biolink:gene_associated_with_condition MONDO:0013434 infores:clingen NCBIGene:339829 MONDO:0013434 Definitive 2021-11-02T20:43:10.116Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79c47f13-dd33-45e4-a170-6ff26aa2732c-2021-11-02T204310.116Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:28962 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:28962 MONDO:0700096 No evidence available 0 true NCBIGene:9368 biolink:gene_associated_with_condition MONDO:0012851 infores:ubergraph knowledge_assertion manual_agent HGNC:11075 MONDO:0012851 NCBIGene:580 biolink:gene_associated_with_condition MONDO:0700267 infores:clingen HGNC:952 MONDO:0700267 Definitive 2024-09-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09113d8c-ba63-40f1-9c8f-08b67c6c867c-2024-09-03T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:259197 biolink:gene_associated_with_condition MONDO:0012202 infores:ubergraph knowledge_assertion manual_agent HGNC:19077 MONDO:0012202 NCBIGene:10463 biolink:gene_associated_with_condition MONDO:0044726 infores:ubergraph knowledge_assertion manual_agent HGNC:1329 MONDO:0044726 NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0007893 infores:clingen HGNC:6840 MONDO:0007893 Limited 2018-05-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee3071d5-ea0d-4804-ad61-3c6471f6a47e-2018-05-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55906 biolink:gene_associated_with_condition MONDO:0026762 infores:ubergraph knowledge_assertion manual_agent HGNC:24931 MONDO:0026762 NCBIGene:1144 biolink:gene_associated_with_condition MONDO:0014584 infores:ubergraph knowledge_assertion manual_agent HGNC:1965 MONDO:0014584 NCBIGene:51244 biolink:gene_associated_with_condition MONDO:0014784 infores:ubergraph knowledge_assertion manual_agent HGNC:28033 MONDO:0014784 NCBIGene:2673 biolink:gene_associated_with_condition MONDO:0012518 infores:clingen HGNC:4241 MONDO:0012518 Definitive 2024-07-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8f8af21-a5dc-41aa-9bd3-b38c3a98d55c-2024-07-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3716 biolink:gene_associated_with_condition MONDO:0033558 infores:ubergraph knowledge_assertion manual_agent HGNC:6190 MONDO:0033558 NCBIGene:4311 biolink:gene_associated_with_condition MONDO:0014866 infores:ubergraph knowledge_assertion manual_agent HGNC:7154 MONDO:0014866 NCBIGene:2073 biolink:gene_associated_with_condition MONDO:0010216 infores:ubergraph knowledge_assertion manual_agent HGNC:3437 MONDO:0010216 NCBIGene:894 biolink:gene_associated_with_condition MONDO:0014408 infores:clingen HGNC:1583 MONDO:0014408 Definitive 2025-05-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8657a0bf-65fa-4413-b4e8-e64193c2731e-2025-05-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3593 biolink:gene_associated_with_condition MONDO:0013954 infores:ubergraph knowledge_assertion manual_agent HGNC:5970 MONDO:0013954 NCBIGene:6452 biolink:gene_associated_with_condition MONDO:0007315 infores:ubergraph knowledge_assertion manual_agent HGNC:10825 MONDO:0007315 NCBIGene:2562 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:4083 MONDO:0100062 Definitive 2019-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9327dac-6f76-4881-8a23-ef2b210f92e7-2019-02-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:26960 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26960 MONDO:0700096 No evidence available 0 true NCBIGene:7068 biolink:gene_associated_with_condition MONDO:0008569 infores:ubergraph knowledge_assertion manual_agent HGNC:11799 MONDO:0008569 NCBIGene:3431 biolink:gene_associated_with_condition MONDO:0009338 infores:clingen HGNC:5401 MONDO:0009338 Definitive 2023-10-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee8bf8d3-46b2-4b29-b729-734c952ada99-2023-10-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1186 biolink:gene_associated_with_condition MONDO:0032805 infores:ubergraph knowledge_assertion manual_agent HGNC:2025 MONDO:0032805 NCBIGene:9126 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9126 MONDO:0700096 No evidence available 0 true NCBIGene:3273 biolink:gene_associated_with_condition MONDO:0013143 infores:clingen HGNC:5181 MONDO:0013143 Moderate 2024-02-05T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2604a64-e36e-4512-83a7-e8202ccdb593-2024-02-05T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:147138 biolink:gene_associated_with_condition MONDO:0009176 infores:clingen NCBIGene:147138 MONDO:0009176 Gene associated with autosomal recessive phenotype 30 NCBIGene:238 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:238 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0010632 infores:ubergraph knowledge_assertion manual_agent HGNC:18060 MONDO:0010632 NCBIGene:10806 biolink:gene_associated_with_condition MONDO:0013326 infores:ubergraph knowledge_assertion manual_agent HGNC:10671 MONDO:0013326 NCBIGene:7547 biolink:gene_associated_with_condition MONDO:0010607 infores:ubergraph knowledge_assertion manual_agent HGNC:12874 MONDO:0010607 NCBIGene:10345 biolink:gene_associated_with_condition MONDO:0014191 infores:ubergraph knowledge_assertion manual_agent HGNC:12261 MONDO:0014191 NCBIGene:10225 biolink:gene_associated_with_condition MONDO:0008893 infores:ubergraph knowledge_assertion manual_agent HGNC:16892 MONDO:0008893 NCBIGene:10787 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10787 MONDO:0700096 No evidence available 0 true NCBIGene:80201 biolink:gene_associated_with_condition MONDO:0030619 infores:ubergraph knowledge_assertion manual_agent HGNC:23302 MONDO:0030619 NCBIGene:3454 biolink:gene_associated_with_condition MONDO:0030970 infores:clingen HGNC:5432 MONDO:0030970 Definitive 2025-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04c73236-ed2c-4794-a157-4560d7cc3367-2025-05-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1213 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:1213 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57231 biolink:gene_associated_with_condition MONDO:0014601 infores:clingen HGNC:14977 MONDO:0014601 Definitive 2024-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_caf5ad64-1220-4969-bde4-1aaca1d95c3c-2024-10-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4038 biolink:gene_associated_with_condition MONDO:0013679 infores:ubergraph knowledge_assertion manual_agent HGNC:6696 MONDO:0013679 NCBIGene:10165 biolink:gene_associated_with_condition MONDO:0016602 infores:clingen HGNC:10983 MONDO:0016602 Definitive 2021-07-23T22:07:42.579Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc373b9e-ec5e-4471-92a1-bbdd9aa3378c-2021-07-23T220742.579Z AR Autosomal Recessive 0000007 NCBIGene:388962 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:24415 MONDO:0044970 Definitive 2023-07-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e6c6964-bbb5-4101-abbb-782eb01b0f33-2023-07-24T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5885 biolink:gene_associated_with_condition MONDO:0013864 infores:ubergraph knowledge_assertion manual_agent HGNC:9811 MONDO:0013864 NCBIGene:51733 biolink:gene_associated_with_condition MONDO:0013164 infores:clingen NCBIGene:51733 MONDO:0013164 Gene associated with autosomal recessive phenotype 30 NCBIGene:23118 biolink:gene_associated_with_condition MONDO:0014000 infores:ubergraph knowledge_assertion manual_agent HGNC:17075 MONDO:0014000 NCBIGene:2296 biolink:gene_associated_with_condition MONDO:0024456 infores:clingen HGNC:3800 MONDO:0024456 Definitive 2021-12-15T03:12:46.818Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2271229-84ea-4aff-81b4-3428c173ed7b-2021-12-15T031246.818Z AD Autosomal Dominant 0000006 NCBIGene:1471 biolink:gene_associated_with_condition MONDO:0007098 infores:ubergraph knowledge_assertion manual_agent HGNC:2475 MONDO:0007098 NCBIGene:6530 biolink:gene_associated_with_condition MONDO:0011479 infores:ubergraph knowledge_assertion manual_agent HGNC:11048 MONDO:0011479 NCBIGene:1770 biolink:gene_associated_with_condition MONDO:0032664 infores:ubergraph knowledge_assertion manual_agent HGNC:2953 MONDO:0032664 NCBIGene:5063 biolink:gene_associated_with_condition MONDO:0010361 infores:ubergraph knowledge_assertion manual_agent HGNC:8592 MONDO:0010361 NCBIGene:5995 biolink:gene_associated_with_condition MONDO:0013414 infores:ubergraph knowledge_assertion manual_agent HGNC:9990 MONDO:0013414 NCBIGene:4905 biolink:gene_associated_with_condition MONDO:0023659 infores:ubergraph knowledge_assertion manual_agent HGNC:8016 MONDO:0023659 NCBIGene:116115 biolink:gene_associated_with_condition MONDO:0859251 infores:ubergraph knowledge_assertion manual_agent HGNC:29415 MONDO:0859251 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6323 MONDO:0700096 No evidence available 0 true NCBIGene:267010 biolink:gene_associated_with_condition MONDO:0033717 infores:ubergraph knowledge_assertion manual_agent HGNC:19380 MONDO:0033717 NCBIGene:201294 biolink:gene_associated_with_condition MONDO:0012146 infores:clingen HGNC:23147 MONDO:0012146 Definitive 2024-01-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b2b30c4-5544-476f-8c2f-c2511c69ccfc-2024-01-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:29760 biolink:gene_associated_with_condition MONDO:0013289 infores:ubergraph knowledge_assertion manual_agent HGNC:14211 MONDO:0013289 NCBIGene:6495 biolink:gene_associated_with_condition MONDO:0011519 infores:ubergraph knowledge_assertion manual_agent HGNC:10887 MONDO:0011519 NCBIGene:123606 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:123606 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0002441 infores:clingen HGNC:6294 MONDO:0002441 Definitive 2017-12-19T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cb5cd32-6663-48bc-b8b0-3b9ca34e2cb7-2017-12-19T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:26119 biolink:gene_associated_with_condition MONDO:0011374 infores:ubergraph knowledge_assertion manual_agent HGNC:18640 MONDO:0011374 NCBIGene:23020 biolink:gene_associated_with_condition MONDO:0800098 infores:clingen HGNC:30859 MONDO:0800098 Definitive 2022-05-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41acb15c-18a0-412b-a308-66a7f4e2837a-2022-05-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6857 biolink:gene_associated_with_condition MONDO:0033864 infores:ubergraph knowledge_assertion manual_agent HGNC:11509 MONDO:0033864 NCBIGene:3293 biolink:gene_associated_with_condition MONDO:0009916 infores:clingen NCBIGene:3293 MONDO:0009916 Gene associated with autosomal recessive phenotype 30 NCBIGene:472 biolink:gene_associated_with_condition MONDO:0008840 infores:ubergraph knowledge_assertion manual_agent HGNC:795 MONDO:0008840 NCBIGene:10667 biolink:gene_associated_with_condition MONDO:0014882 infores:ubergraph knowledge_assertion manual_agent HGNC:21062 MONDO:0014882 NCBIGene:55812 biolink:gene_associated_with_condition MONDO:0011415 infores:clingen NCBIGene:55812 MONDO:0011415 Gene associated with autosomal recessive phenotype 30 NCBIGene:2147 biolink:gene_associated_with_condition MONDO:0013361 infores:ubergraph knowledge_assertion manual_agent HGNC:3535 MONDO:0013361 NCBIGene:7167 biolink:gene_associated_with_condition MONDO:0014221 infores:ubergraph knowledge_assertion manual_agent HGNC:12009 MONDO:0014221 NCBIGene:645104 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:33939 MONDO:0019497 Moderate 2025-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_078ef57b-27ff-4a88-b350-d549449c524e-2025-09-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:22948 biolink:gene_associated_with_condition MONDO:0009748 infores:ubergraph knowledge_assertion manual_agent HGNC:1618 MONDO:0009748 NCBIGene:4092 biolink:gene_associated_with_condition MONDO:0012820 infores:ubergraph knowledge_assertion manual_agent HGNC:6773 MONDO:0012820 NCBIGene:7450 biolink:gene_associated_with_condition MONDO:0010191 infores:ubergraph knowledge_assertion manual_agent HGNC:12726 MONDO:0010191 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:6636 MONDO:0016587 Limited 2019-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef503af9-9d10-4714-848b-34cfa0049c23-2019-09-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7852 biolink:gene_associated_with_condition MONDO:0023880 infores:clingen HGNC:2561 MONDO:0023880 Definitive 2023-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89723de3-8fd8-4e2c-8609-bcd924e2f349-2023-01-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:54765 biolink:gene_associated_with_condition MONDO:0014938 infores:ubergraph knowledge_assertion manual_agent HGNC:19016 MONDO:0014938 NCBIGene:23022 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23022 MONDO:0700096 true No evidence available 0 NCBIGene:5277 biolink:gene_associated_with_condition MONDO:0010438 infores:ubergraph knowledge_assertion manual_agent HGNC:8957 MONDO:0010438 NCBIGene:808 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:808 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3913 biolink:gene_associated_with_condition MONDO:0013621 infores:ubergraph knowledge_assertion manual_agent HGNC:6487 MONDO:0013621 NCBIGene:1412 biolink:gene_associated_with_condition MONDO:0007283 infores:ubergraph knowledge_assertion manual_agent HGNC:2395 MONDO:0007283 NCBIGene:55651 biolink:gene_associated_with_condition MONDO:0013519 infores:clingen NCBIGene:55651 MONDO:0013519 Limited 2025-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa9dcb-1cc6-43a2-8f86-e6cea0e6fce2-2025-08-01T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:529 biolink:gene_associated_with_condition MONDO:0027462 infores:clingen HGNC:857 MONDO:0027462 Limited 2024-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d86dbf9e-ebed-446b-8291-e5838e37fd06-2024-05-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79600 biolink:gene_associated_with_condition MONDO:0013608 infores:clingen NCBIGene:79600 MONDO:0013608 Gene associated with autosomal recessive phenotype 30 NCBIGene:51604 biolink:gene_associated_with_condition MONDO:0014165 infores:clingen HGNC:14938 MONDO:0014165 Definitive 2025-08-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07ba32cf-e0ae-41ca-b49f-3559e43ad26d-2025-08-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:368 biolink:gene_associated_with_condition MONDO:0013768 infores:ubergraph knowledge_assertion manual_agent HGNC:57 MONDO:0013768 NCBIGene:164781 biolink:gene_associated_with_condition MONDO:0957922 infores:clingen HGNC:26383 MONDO:0957922 Limited 2024-06-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8610990f-63cf-466a-8cd7-fbf7ae58d0f2-2024-06-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:375748 biolink:gene_associated_with_condition MONDO:0014317 infores:ubergraph knowledge_assertion manual_agent HGNC:26922 MONDO:0014317 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:11273 MONDO:0100062 Definitive 2019-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6737ac52-8177-4be1-95fe-92ddecbf5636-2019-01-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:283 biolink:gene_associated_with_condition MONDO:0012753 infores:clingen HGNC:483 MONDO:0012753 Limited 2022-02-08T00:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ee17299-56dd-40a7-8cec-9a316f3e46f2-2022-02-08T000000.000Z AD Autosomal Dominant 0000006 NCBIGene:79879 biolink:gene_associated_with_condition MONDO:0030714 infores:ubergraph knowledge_assertion manual_agent HGNC:26185 MONDO:0030714 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0008196 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0008196 NCBIGene:9419 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9419 MONDO:0700096 No evidence available 0 true NCBIGene:8452 biolink:gene_associated_with_condition MONDO:0013782 infores:ubergraph knowledge_assertion manual_agent HGNC:2553 MONDO:0013782 NCBIGene:51103 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:51103 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:5146 biolink:gene_associated_with_condition MONDO:1040028 infores:clingen HGNC:8787 MONDO:1040028 Definitive 2023-11-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73ed48ac-bdd6-4608-953d-773da6ade759-2023-11-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6335 biolink:gene_associated_with_condition MONDO:0009459 infores:ubergraph knowledge_assertion manual_agent HGNC:10597 MONDO:0009459 NCBIGene:3572 biolink:gene_associated_with_condition MONDO:0032796 infores:ubergraph knowledge_assertion manual_agent HGNC:6021 MONDO:0032796 NCBIGene:7979 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7979 MONDO:0700096 No evidence available 0 true NCBIGene:1493 biolink:gene_associated_with_condition MONDO:0012341 infores:ubergraph knowledge_assertion manual_agent HGNC:2505 MONDO:0012341 NCBIGene:81848 biolink:gene_associated_with_condition MONDO:0014102 infores:ubergraph knowledge_assertion manual_agent HGNC:15533 MONDO:0014102 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0007270 infores:ubergraph knowledge_assertion manual_agent HGNC:11947 MONDO:0007270 NCBIGene:10381 biolink:gene_associated_with_condition MONDO:0100154 infores:ubergraph knowledge_assertion manual_agent HGNC:20772 MONDO:0100154 NCBIGene:3293 biolink:gene_associated_with_condition MONDO:0009916 infores:ubergraph knowledge_assertion manual_agent HGNC:5212 MONDO:0009916 NCBIGene:2779 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:4393 MONDO:0019118 Definitive 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_918f973a-bcf5-43f5-981a-c452b1087650-2024-11-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3188 biolink:gene_associated_with_condition MONDO:0010512 infores:ubergraph knowledge_assertion manual_agent HGNC:5042 MONDO:0010512 NCBIGene:2717 biolink:gene_associated_with_condition MONDO:0010526 infores:ubergraph knowledge_assertion manual_agent HGNC:4296 MONDO:0010526 NCBIGene:5293 biolink:gene_associated_with_condition MONDO:0014222 infores:ubergraph knowledge_assertion manual_agent HGNC:8977 MONDO:0014222 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0024550 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0024550 NCBIGene:128869 biolink:gene_associated_with_condition MONDO:0032824 infores:clingen HGNC:15791 MONDO:0032824 Limited 2025-06-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06c208ae-ed82-4b3e-88b6-a9a144ef7775-2025-06-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4513 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7421 MONDO:0009723 Limited 2021-06-28T14:41:36.451Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41d6a25c-4300-4e43-b0f8-1923ff3ddad8-2021-06-28T144136.451Z MT Mitochondrial 0001427 NCBIGene:6261 biolink:gene_associated_with_condition MONDO:0007783 infores:ubergraph knowledge_assertion manual_agent HGNC:10483 MONDO:0007783 NCBIGene:54805 biolink:gene_associated_with_condition MONDO:0020787 infores:clingen HGNC:103 MONDO:0020787 Definitive 2024-02-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_522bb617-c817-4536-a87b-01d4302d7bf0-2024-02-15T170000.000Z SD Semidominant 0032113 NCBIGene:23581 biolink:gene_associated_with_condition MONDO:0015018 infores:ubergraph knowledge_assertion manual_agent HGNC:1502 MONDO:0015018 NCBIGene:2916 biolink:gene_associated_with_condition MONDO:0800397 infores:ubergraph knowledge_assertion manual_agent HGNC:4598 MONDO:0800397 NCBIGene:2157 biolink:gene_associated_with_condition MONDO:0010602 infores:clingen NCBIGene:2157 MONDO:0010602 Definitive 2019-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4578f11-b635-45f4-8034-310fca5fe960-2019-07-24T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29967 biolink:gene_associated_with_condition MONDO:0020793 infores:ubergraph knowledge_assertion manual_agent HGNC:31708 MONDO:0020793 NCBIGene:6938 biolink:gene_associated_with_condition MONDO:0014128 infores:clingen NCBIGene:6938 MONDO:0014128 Definitive 2021-01-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11e46ed0-dbfb-4151-ba1c-cc56214d6ca6-2021-01-28T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:716 biolink:gene_associated_with_condition MONDO:0013419 infores:ubergraph knowledge_assertion manual_agent HGNC:1247 MONDO:0013419 NCBIGene:9620 biolink:gene_associated_with_condition MONDO:0030270 infores:ubergraph knowledge_assertion manual_agent HGNC:1850 MONDO:0030270 NCBIGene:22859 biolink:gene_associated_with_condition MONDO:0859292 infores:ubergraph knowledge_assertion manual_agent HGNC:20973 MONDO:0859292 NCBIGene:4086 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6767 MONDO:0015924 Disputed 2022-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_804f2eeb-7328-45c2-947b-cb9c4da0fecc-2022-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:400916 biolink:gene_associated_with_condition MONDO:0014025 infores:ubergraph knowledge_assertion manual_agent HGNC:15559 MONDO:0014025 NCBIGene:122481 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:20091 MONDO:0016575 Disputed 2023-03-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d34669e-fef4-49fb-97af-be7b5c6bea2d-2023-03-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:157657 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:157657 MONDO:0700096 No evidence available 0 true NCBIGene:55870 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55870 MONDO:0700096 No evidence available 0 true NCBIGene:975 biolink:gene_associated_with_condition MONDO:0013286 infores:clingen HGNC:1701 MONDO:0013286 Limited 2021-04-29T21:08:06.386Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2092b4c-a8ff-4b40-bc09-17fbe33aa3e7-2021-04-29T210806.386Z AR Autosomal Recessive 0000007 NCBIGene:53904 biolink:gene_associated_with_condition MONDO:0958232 infores:ubergraph knowledge_assertion manual_agent HGNC:7601 MONDO:0958232 NCBIGene:7138 biolink:gene_associated_with_condition MONDO:0011539 infores:ubergraph knowledge_assertion manual_agent HGNC:11948 MONDO:0011539 NCBIGene:1742 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:1742 MONDO:0100038 Definitive 2023-01-16T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe31e200-7afd-49a9-80e0-60f9236c7dab-2023-01-16T230000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:274 biolink:gene_associated_with_condition MONDO:0018947 infores:clingen HGNC:1052 MONDO:0018947 Limited 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb963a9-ec8a-4966-93bb-4f8ef6f8f8a1-2024-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:57190 biolink:gene_associated_with_condition MONDO:0100100 infores:ubergraph knowledge_assertion manual_agent HGNC:15999 MONDO:0100100 NCBIGene:256297 biolink:gene_associated_with_condition MONDO:0012192 infores:ubergraph knowledge_assertion manual_agent HGNC:23734 MONDO:0012192 NCBIGene:5350 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5350 MONDO:0700096 No evidence available 0 true NCBIGene:4758 biolink:gene_associated_with_condition MONDO:0009738 infores:ubergraph knowledge_assertion manual_agent HGNC:7758 MONDO:0009738 NCBIGene:2248 biolink:gene_associated_with_condition MONDO:0012541 infores:ubergraph knowledge_assertion manual_agent HGNC:3681 MONDO:0012541 NCBIGene:3778 biolink:gene_associated_with_condition MONDO:0012276 infores:ubergraph knowledge_assertion manual_agent HGNC:6284 MONDO:0012276 NCBIGene:4351 biolink:gene_associated_with_condition MONDO:0011257 infores:clingen HGNC:7216 MONDO:0011257 Definitive 2023-12-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6c880b8-c9fc-453b-8975-236a97047192-2023-12-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1053 biolink:gene_associated_with_condition MONDO:0044207 infores:clingen NCBIGene:1053 MONDO:0044207 Gene associated with autosomal recessive phenotype 30 NCBIGene:152926 biolink:gene_associated_with_condition MONDO:0014057 infores:ubergraph knowledge_assertion manual_agent HGNC:25415 MONDO:0014057 NCBIGene:178 biolink:gene_associated_with_condition MONDO:0009291 infores:clingen HGNC:321 MONDO:0009291 Definitive 2023-02-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7b762bc-a12f-4194-91b9-764784248cc7-2023-02-24T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6770 MONDO:0015924 Disputed 2022-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12d82f9f-8ab2-4012-a5d5-20de99f23c07-2022-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10365 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6347 MONDO:0015924 Limited 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1544c7bb-410b-4340-ab70-0bd431426c04-2022-11-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55858 biolink:gene_associated_with_condition MONDO:0013870 infores:ubergraph knowledge_assertion manual_agent HGNC:30760 MONDO:0013870 NCBIGene:4643 biolink:gene_associated_with_condition MONDO:0013589 infores:clingen NCBIGene:4643 MONDO:0013589 Gene associated with autosomal recessive phenotype 30 NCBIGene:1829 biolink:gene_associated_with_condition MONDO:0012434 infores:ubergraph knowledge_assertion manual_agent HGNC:3049 MONDO:0012434 NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7157 MONDO:0700096 No evidence available 0 true NCBIGene:54973 biolink:gene_associated_with_condition MONDO:0957386 infores:ubergraph knowledge_assertion manual_agent HGNC:26052 MONDO:0957386 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0007263 infores:clingen HGNC:10593 MONDO:0007263 Definitive 2025-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f832392-a92b-408d-8d1a-e2037905fab3-2025-10-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10165 biolink:gene_associated_with_condition MONDO:0011601 infores:clingen NCBIGene:10165 MONDO:0011601 Gene associated with autosomal recessive phenotype 30 NCBIGene:8021 biolink:gene_associated_with_condition MONDO:0032742 infores:ubergraph knowledge_assertion manual_agent HGNC:8064 MONDO:0032742 NCBIGene:55863 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:30883 MONDO:0044970 Definitive 2022-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9df6705-7638-45c1-b3ec-db19fe0d39b9-2022-03-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51741 biolink:gene_associated_with_condition MONDO:0013687 infores:clingen NCBIGene:51741 MONDO:0013687 Gene associated with autosomal recessive phenotype 30 NCBIGene:80816 biolink:gene_associated_with_condition MONDO:0014205 infores:ubergraph knowledge_assertion manual_agent HGNC:29357 MONDO:0014205 NCBIGene:5429 biolink:gene_associated_with_condition MONDO:0010214 infores:ubergraph knowledge_assertion manual_agent HGNC:9181 MONDO:0010214 NCBIGene:6311 biolink:gene_associated_with_condition MONDO:0008458 infores:ubergraph knowledge_assertion manual_agent HGNC:10555 MONDO:0008458 NCBIGene:1889 biolink:gene_associated_with_condition MONDO:0013473 infores:ubergraph knowledge_assertion manual_agent HGNC:3146 MONDO:0013473 NCBIGene:319103 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:319103 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4744 biolink:gene_associated_with_condition MONDO:0014836 infores:clingen NCBIGene:4744 MONDO:0014836 Definitive 2020-10-05T16:16:45.817Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e1390ea-fd6c-4fa4-9b43-0eccff9e2829-2020-10-05T161645.817Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:4983 biolink:gene_associated_with_condition MONDO:0010337 infores:ubergraph knowledge_assertion manual_agent HGNC:8148 MONDO:0010337 NCBIGene:11141 biolink:gene_associated_with_condition MONDO:0010256 infores:clingen NCBIGene:11141 MONDO:0010256 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55210 biolink:gene_associated_with_condition MONDO:0014958 infores:ubergraph knowledge_assertion manual_agent HGNC:25567 MONDO:0014958 NCBIGene:4221 biolink:gene_associated_with_condition MONDO:0007540 infores:clingen NCBIGene:4221 MONDO:0007540 Definitive 2020-05-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a40ef20e-115c-4667-b4a2-6c7c8fb07a49-2020-05-13T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79583 biolink:gene_associated_with_condition MONDO:0014164 infores:ubergraph knowledge_assertion manual_agent HGNC:37234 MONDO:0014164 NCBIGene:91949 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91949 MONDO:0700096 No evidence available 0 true NCBIGene:10723 biolink:gene_associated_with_condition MONDO:0009968 infores:clingen HGNC:10915 MONDO:0009968 No Known Disease Relationship 2024-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f2aabf8-acc7-4faf-9742-e201a19d5138-2024-09-19T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:7508 biolink:gene_associated_with_condition MONDO:0010211 infores:ubergraph knowledge_assertion manual_agent HGNC:12816 MONDO:0010211 NCBIGene:64805 biolink:gene_associated_with_condition MONDO:0012354 infores:clingen HGNC:18124 MONDO:0012354 Moderate 2023-04-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b61af44-1fb4-4c7d-94b2-f21903793162-2023-04-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79770 biolink:gene_associated_with_condition MONDO:0030819 infores:ubergraph knowledge_assertion manual_agent HGNC:20652 MONDO:0030819 NCBIGene:102 biolink:gene_associated_with_condition MONDO:0014234 infores:ubergraph knowledge_assertion manual_agent HGNC:188 MONDO:0014234 NCBIGene:64065 biolink:gene_associated_with_condition MONDO:0030941 infores:ubergraph knowledge_assertion manual_agent HGNC:17637 MONDO:0030941 NCBIGene:783 biolink:gene_associated_with_condition MONDO:0100547 infores:clingen HGNC:1402 MONDO:0100547 Disputed 2025-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dd59b42-2ed6-4685-b93b-39ba49ece50b-2025-07-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6041 biolink:gene_associated_with_condition MONDO:0011098 infores:ubergraph knowledge_assertion manual_agent HGNC:10050 MONDO:0011098 NCBIGene:5373 biolink:gene_associated_with_condition MONDO:0008907 infores:clingen NCBIGene:5373 MONDO:0008907 Definitive 2023-12-12T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a70becbb-336f-4a30-966b-8db1c7832d87-2023-12-12T050000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:29920 biolink:gene_associated_with_condition MONDO:0014632 infores:ubergraph knowledge_assertion manual_agent HGNC:30262 MONDO:0014632 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:775 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:9900 biolink:gene_associated_with_condition MONDO:0958330 infores:ubergraph knowledge_assertion manual_agent HGNC:20566 MONDO:0958330 NCBIGene:6329 biolink:gene_associated_with_condition MONDO:0800468 infores:ubergraph knowledge_assertion manual_agent HGNC:10591 MONDO:0800468 NCBIGene:79719 biolink:gene_associated_with_condition MONDO:0007858 infores:clingen NCBIGene:79719 MONDO:0007858 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6659 biolink:gene_associated_with_condition MONDO:0032791 infores:ubergraph knowledge_assertion manual_agent HGNC:11200 MONDO:0032791 NCBIGene:283635 biolink:gene_associated_with_condition MONDO:0976264 infores:ubergraph knowledge_assertion manual_agent HGNC:19829 MONDO:0976264 NCBIGene:23592 biolink:gene_associated_with_condition MONDO:0008157 infores:clingen NCBIGene:23592 MONDO:0008157 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4117 biolink:gene_associated_with_condition MONDO:0700229 infores:clingen HGNC:6816 MONDO:0700229 Definitive 2023-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee785a8d-420d-4c3a-a585-c963d06df52e-2023-03-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:126129 biolink:gene_associated_with_condition MONDO:0019064 infores:clingen HGNC:18540 MONDO:0019064 Limited 2023-03-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d171b54-3af1-442a-9c54-b959061a7b5a-2023-03-20T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:64283 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:30322 MONDO:0004976 Limited 2024-03-28T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac27cecc-9749-4c69-88fa-fe83b2d49568-2024-03-28T190000.000Z SD Semidominant 0032113 NCBIGene:8313 biolink:gene_associated_with_condition MONDO:0012075 infores:clingen NCBIGene:8313 MONDO:0012075 Definitive 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb1ae839-6186-44f7-85fe-8642b6c180ba-2023-12-20T180000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57158 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:14202 MONDO:0005021 Limited 2025-01-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d310e47-1f84-4c61-b06a-b273a4b1b601-2025-01-24T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6853 biolink:gene_associated_with_condition MONDO:0010251 infores:ubergraph knowledge_assertion manual_agent HGNC:11494 MONDO:0010251 NCBIGene:23347 biolink:gene_associated_with_condition MONDO:0011323 infores:clingen HGNC:29090 MONDO:0011323 Definitive 2022-05-20T04:21:39.263Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f2b442-3afa-4427-8e9b-3dc2485790aa-2022-05-20T042139.263Z AD Autosomal Dominant 0000006 NCBIGene:859 biolink:gene_associated_with_condition MONDO:0012736 infores:ubergraph knowledge_assertion manual_agent HGNC:1529 MONDO:0012736 NCBIGene:5660 biolink:gene_associated_with_condition MONDO:0012517 infores:clingen HGNC:9498 MONDO:0012517 Definitive 2023-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e949cb92-7d76-471e-9e37-44fd7f00964b-2023-06-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:25973 biolink:gene_associated_with_condition MONDO:0032752 infores:ubergraph knowledge_assertion manual_agent HGNC:30563 MONDO:0032752 NCBIGene:26175 biolink:gene_associated_with_condition MONDO:0859156 infores:ubergraph knowledge_assertion manual_agent HGNC:20218 MONDO:0859156 NCBIGene:6718 biolink:gene_associated_with_condition MONDO:0009339 infores:clingen HGNC:388 MONDO:0009339 Definitive 2024-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_236a7baf-2425-4882-a6de-130dfb5117ac-2024-09-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:284904 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:284904 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:157855 biolink:gene_associated_with_condition MONDO:0859352 infores:ubergraph knowledge_assertion manual_agent HGNC:18867 MONDO:0859352 NCBIGene:10020 biolink:gene_associated_with_condition MONDO:0958325 infores:ubergraph knowledge_assertion manual_agent HGNC:23657 MONDO:0958325 NCBIGene:116085 biolink:gene_associated_with_condition MONDO:0020728 infores:ubergraph knowledge_assertion manual_agent HGNC:17989 MONDO:0020728 NCBIGene:91624 biolink:gene_associated_with_condition MONDO:0013477 infores:ubergraph knowledge_assertion manual_agent HGNC:29557 MONDO:0013477 NCBIGene:2202 biolink:gene_associated_with_condition MONDO:0958335 infores:ubergraph knowledge_assertion manual_agent HGNC:3218 MONDO:0958335 NCBIGene:39 biolink:gene_associated_with_condition MONDO:0013548 infores:ubergraph knowledge_assertion manual_agent HGNC:94 MONDO:0013548 NCBIGene:10908 biolink:gene_associated_with_condition MONDO:0100149 infores:clingen HGNC:16268 MONDO:0100149 Definitive 2022-11-02T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f05d3811-d318-4d8e-be25-8b9da90e6d23-2022-11-02T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:10908 biolink:gene_associated_with_condition MONDO:0009514 infores:ubergraph knowledge_assertion manual_agent HGNC:16268 MONDO:0009514 NCBIGene:5456 biolink:gene_associated_with_condition MONDO:0010576 infores:ubergraph knowledge_assertion manual_agent HGNC:9217 MONDO:0010576 NCBIGene:6299 biolink:gene_associated_with_condition MONDO:0054581 infores:clingen NCBIGene:6299 MONDO:0054581 true Little evidence for dosage pathogenicity 1 NCBIGene:2147 biolink:gene_associated_with_condition MONDO:0013361 infores:clingen HGNC:3535 MONDO:0013361 Definitive 2020-06-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ba9c4b9-9984-4d31-a9ae-bf638838f201-2020-06-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4709 biolink:gene_associated_with_condition MONDO:0032629 infores:ubergraph knowledge_assertion manual_agent HGNC:7698 MONDO:0032629 NCBIGene:868 biolink:gene_associated_with_condition MONDO:0957388 infores:ubergraph knowledge_assertion manual_agent HGNC:1542 MONDO:0957388 NCBIGene:3612 biolink:gene_associated_with_condition MONDO:0015020 infores:ubergraph knowledge_assertion manual_agent HGNC:6050 MONDO:0015020 NCBIGene:2253 biolink:gene_associated_with_condition MONDO:0012988 infores:ubergraph knowledge_assertion manual_agent HGNC:3686 MONDO:0012988 NCBIGene:5629 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:9459 MONDO:0005453 Disputed 2024-08-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13302ea4-4b24-44eb-95fd-d7f72bb0a16a-2024-08-12T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84233 biolink:gene_associated_with_condition MONDO:0013069 infores:clingen HGNC:25382 MONDO:0013069 Definitive 2024-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc3b00f9-e385-48c5-8d6d-fcbee7a33717-2024-09-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7036 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7036 MONDO:0700096 No evidence available 0 true NCBIGene:4728 biolink:gene_associated_with_condition MONDO:0032606 infores:ubergraph knowledge_assertion manual_agent HGNC:7715 MONDO:0032606 NCBIGene:3145 biolink:gene_associated_with_condition MONDO:0958224 infores:ubergraph knowledge_assertion manual_agent HGNC:4982 MONDO:0958224 NCBIGene:5309 biolink:gene_associated_with_condition MONDO:0007138 infores:ubergraph knowledge_assertion manual_agent HGNC:9006 MONDO:0007138 NCBIGene:4848 biolink:gene_associated_with_condition MONDO:0032832 infores:clingen NCBIGene:4848 MONDO:0032832 true Little evidence for dosage pathogenicity 1 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0011398 infores:ubergraph knowledge_assertion manual_agent HGNC:2214 MONDO:0011398 NCBIGene:215 biolink:gene_associated_with_condition MONDO:0018544 infores:clingen NCBIGene:215 MONDO:0018544 Definitive 2020-12-18T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4841 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen NCBIGene:4841 MONDO:0020119 Definitive 2023-04-05T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82c86e42-461d-459e-b20e-70f2b51df099-2023-04-05T190000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3075 biolink:gene_associated_with_condition MONDO:0013892 infores:clingen HGNC:4883 MONDO:0013892 Definitive 2024-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9eeff991-b5ac-4d1b-a128-47fa2306c1c5-2024-02-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9526 biolink:gene_associated_with_condition MONDO:0012211 infores:ubergraph knowledge_assertion manual_agent HGNC:7207 MONDO:0012211 NCBIGene:339983 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:339983 MONDO:0700096 No evidence available 0 true NCBIGene:10841 biolink:gene_associated_with_condition MONDO:0009240 infores:clingen NCBIGene:10841 MONDO:0009240 Gene associated with autosomal recessive phenotype 30 NCBIGene:3709 biolink:gene_associated_with_condition MONDO:0007118 infores:ubergraph knowledge_assertion manual_agent HGNC:6181 MONDO:0007118 NCBIGene:85300 biolink:gene_associated_with_condition MONDO:0011025 infores:ubergraph knowledge_assertion manual_agent HGNC:779 MONDO:0011025 NCBIGene:545 biolink:gene_associated_with_condition MONDO:0013806 infores:ubergraph knowledge_assertion manual_agent HGNC:882 MONDO:0013806 NCBIGene:79867 biolink:gene_associated_with_condition MONDO:0013482 infores:ubergraph knowledge_assertion manual_agent HGNC:25774 MONDO:0013482 NCBIGene:808 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:1449 MONDO:0002442 Definitive 2018-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cc2a1ae-5f3d-445c-b124-f3d38fdd070a-2018-09-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:776 biolink:gene_associated_with_condition MONDO:0014200 infores:ubergraph knowledge_assertion manual_agent HGNC:1391 MONDO:0014200 NCBIGene:1769 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:2952 MONDO:0016575 Disputed 2022-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c98a44d-6d43-48fc-8286-9e499bf04a1b-2022-06-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57728 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:18340 MONDO:0005308 Definitive 2022-05-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_418a6e41-45ad-411f-a40d-2f7cb61ff589-2022-05-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84693 biolink:gene_associated_with_condition MONDO:0009615 infores:clingen NCBIGene:84693 MONDO:0009615 Definitive 2020-07-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8546531-fe3d-48fd-8103-f5f84fd04514-2020-07-09T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1848 biolink:gene_associated_with_condition MONDO:0014105 infores:ubergraph knowledge_assertion manual_agent HGNC:3072 MONDO:0014105 NCBIGene:8676 biolink:gene_associated_with_condition MONDO:0011336 infores:ubergraph knowledge_assertion manual_agent HGNC:11429 MONDO:0011336 NCBIGene:5325 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5325 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51259 biolink:gene_associated_with_condition MONDO:0011963 infores:ubergraph knowledge_assertion manual_agent HGNC:25018 MONDO:0011963 NCBIGene:114548 biolink:gene_associated_with_condition MONDO:0011776 infores:ubergraph knowledge_assertion manual_agent HGNC:16400 MONDO:0011776 NCBIGene:55033 biolink:gene_associated_with_condition MONDO:0013800 infores:ubergraph knowledge_assertion manual_agent HGNC:18625 MONDO:0013800 NCBIGene:63929 biolink:gene_associated_with_condition MONDO:0013163 infores:clingen NCBIGene:63929 MONDO:0013163 Definitive 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1fd65c6-6010-4ee7-bb1c-e347c539127c-2024-06-10T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23590 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:17759 MONDO:0044970 Moderate 2023-07-31T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd9c803-3a72-443a-9ab7-dcb048aa5c6c-2023-07-31T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:10049 biolink:gene_associated_with_condition MONDO:0015151 infores:clingen HGNC:14888 MONDO:0015151 Definitive 2024-08-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97c1cb24-7c3b-4cd2-90f4-2b56fb539539-2024-08-13T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:221481 biolink:gene_associated_with_condition MONDO:0958242 infores:ubergraph knowledge_assertion manual_agent HGNC:21099 MONDO:0958242 NCBIGene:6792 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6792 MONDO:0700096 No evidence available 0 true NCBIGene:113179 biolink:gene_associated_with_condition MONDO:0014119 infores:ubergraph knowledge_assertion manual_agent HGNC:25151 MONDO:0014119 NCBIGene:1528 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1528 MONDO:0700096 No evidence available 0 true NCBIGene:344167 biolink:gene_associated_with_condition MONDO:0958194 infores:ubergraph knowledge_assertion manual_agent HGNC:35123 MONDO:0958194 NCBIGene:56262 biolink:gene_associated_with_condition MONDO:0013290 infores:ubergraph knowledge_assertion manual_agent HGNC:19027 MONDO:0013290 NCBIGene:287 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:287 MONDO:0700096 No evidence available 0 true NCBIGene:2202 biolink:gene_associated_with_condition MONDO:0007471 infores:clingen HGNC:3218 MONDO:0007471 Definitive 2021-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2859008e-eeb1-4af4-8a6e-1bf5372bb3ab-2021-08-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6569 biolink:gene_associated_with_condition MONDO:0012850 infores:ubergraph knowledge_assertion manual_agent HGNC:11019 MONDO:0012850 NCBIGene:8869 biolink:gene_associated_with_condition MONDO:0018274 infores:clingen NCBIGene:8869 MONDO:0018274 Definitive 2022-04-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5ea65e3-6a02-4435-9ef5-100564d3497c-2022-04-05T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4054 biolink:gene_associated_with_condition MONDO:0011018 infores:ubergraph knowledge_assertion manual_agent HGNC:6716 MONDO:0011018 NCBIGene:79977 biolink:gene_associated_with_condition MONDO:0012083 infores:ubergraph knowledge_assertion manual_agent HGNC:2799 MONDO:0012083 NCBIGene:25861 biolink:gene_associated_with_condition MONDO:0011767 infores:ubergraph knowledge_assertion manual_agent HGNC:16361 MONDO:0011767 NCBIGene:3850 biolink:gene_associated_with_condition MONDO:0032904 infores:ubergraph knowledge_assertion manual_agent HGNC:6440 MONDO:0032904 NCBIGene:56916 biolink:gene_associated_with_condition MONDO:0007507 infores:ubergraph knowledge_assertion manual_agent HGNC:18398 MONDO:0007507 NCBIGene:11093 biolink:gene_associated_with_condition MONDO:0010122 infores:clingen NCBIGene:11093 MONDO:0010122 Definitive 2020-03-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442c328-21be-482d-9ea9-ce694c1a5dd9-2020-03-25T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4920 biolink:gene_associated_with_condition MONDO:0009999 infores:ubergraph knowledge_assertion manual_agent HGNC:10257 MONDO:0009999 NCBIGene:26160 biolink:gene_associated_with_condition MONDO:0023670 infores:ubergraph knowledge_assertion manual_agent HGNC:30391 MONDO:0023670 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0014032 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0014032 NCBIGene:5230 biolink:gene_associated_with_condition MONDO:0010392 infores:ubergraph knowledge_assertion manual_agent HGNC:8896 MONDO:0010392 NCBIGene:261734 biolink:gene_associated_with_condition MONDO:0011752 infores:clingen HGNC:19104 MONDO:0011752 Definitive 2021-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafd0d51-dd5d-4691-8725-86518345b097-2021-02-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:27077 biolink:gene_associated_with_condition MONDO:0013630 infores:ubergraph knowledge_assertion manual_agent HGNC:24123 MONDO:0013630 NCBIGene:7030 biolink:gene_associated_with_condition MONDO:0859080 infores:ubergraph knowledge_assertion manual_agent HGNC:11752 MONDO:0859080 NCBIGene:4718 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7706 MONDO:0009723 Moderate 2021-01-21T00:40:55.963Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d819bce-43ed-45a3-a16b-74033d432272-2021-01-21T004055.963Z AR Autosomal Recessive 0000007 NCBIGene:6647 biolink:gene_associated_with_condition MONDO:0007103 infores:ubergraph knowledge_assertion manual_agent HGNC:11179 MONDO:0007103 NCBIGene:51322 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51322 MONDO:0700096 No evidence available 0 true NCBIGene:4747 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4747 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:55690 biolink:gene_associated_with_condition MONDO:0014006 infores:clingen HGNC:30032 MONDO:0014006 Definitive 2020-06-26T18:27:16.855Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5fb6cba-cff6-4498-a725-3f863a910cf1-2020-06-26T182716.855Z AD Autosomal Dominant 0000006 NCBIGene:51778 biolink:gene_associated_with_condition MONDO:0013455 infores:ubergraph knowledge_assertion manual_agent HGNC:1330 MONDO:0013455 NCBIGene:331 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:331 MONDO:0700096 No evidence available 0 true NCBIGene:3242 biolink:gene_associated_with_condition MONDO:0007700 infores:clingen HGNC:5147 MONDO:0007700 Limited 2023-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6819b0ea-9f21-4f91-ae92-133d97fcf87b-2023-11-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23509 biolink:gene_associated_with_condition MONDO:0014130 infores:ubergraph knowledge_assertion manual_agent HGNC:14988 MONDO:0014130 NCBIGene:64135 biolink:gene_associated_with_condition MONDO:0700262 infores:ubergraph knowledge_assertion manual_agent HGNC:18873 MONDO:0700262 NCBIGene:4010 biolink:gene_associated_with_condition MONDO:0008061 infores:ubergraph knowledge_assertion manual_agent HGNC:6654 MONDO:0008061 NCBIGene:3586 biolink:gene_associated_with_condition MONDO:0016542 infores:clingen HGNC:5962 MONDO:0016542 Moderate 2025-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b07cbe7-442e-421f-8fc9-7344027dd7dc-2025-02-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6125 biolink:gene_associated_with_condition MONDO:0012937 infores:ubergraph knowledge_assertion manual_agent HGNC:10360 MONDO:0012937 NCBIGene:54790 biolink:gene_associated_with_condition MONDO:0030858 infores:ubergraph knowledge_assertion manual_agent HGNC:25941 MONDO:0030858 NCBIGene:7360 biolink:gene_associated_with_condition MONDO:0032895 infores:ubergraph knowledge_assertion manual_agent HGNC:12527 MONDO:0032895 NCBIGene:65250 biolink:gene_associated_with_condition MONDO:0013824 infores:ubergraph knowledge_assertion manual_agent HGNC:25801 MONDO:0013824 NCBIGene:714 biolink:gene_associated_with_condition MONDO:0958188 infores:ubergraph knowledge_assertion manual_agent HGNC:1245 MONDO:0958188 NCBIGene:10290 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10290 MONDO:0700096 No evidence available 0 true NCBIGene:8888 biolink:gene_associated_with_condition MONDO:0029131 infores:clingen HGNC:6946 MONDO:0029131 Definitive 2023-05-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24bcbb92-9401-4659-beea-022646ee8930-2023-05-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1121 biolink:gene_associated_with_condition MONDO:0010557 infores:ubergraph knowledge_assertion manual_agent HGNC:1940 MONDO:0010557 NCBIGene:200373 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:33720 MONDO:0016575 Moderate 2023-08-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7c841e5-2973-4f23-8603-970e9e2cbc92-2023-08-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:129684 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:18748 MONDO:0100038 Disputed 2024-08-20T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1df71cc1-112f-4382-a047-e078a820699c-2024-08-20T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:23424 biolink:gene_associated_with_condition MONDO:0013484 infores:ubergraph knowledge_assertion manual_agent HGNC:30831 MONDO:0013484 NCBIGene:5624 biolink:gene_associated_with_condition MONDO:0019145 infores:clingen HGNC:9451 MONDO:0019145 Definitive 2020-01-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6fe2f63-36ad-40c2-beb6-8804de17409d-2020-01-22T170000.000Z SD Semidominant 0032113 NCBIGene:1499 biolink:gene_associated_with_condition MONDO:0014035 infores:clingen NCBIGene:1499 MONDO:0014035 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4126 biolink:gene_associated_with_condition MONDO:0009562 infores:ubergraph knowledge_assertion manual_agent HGNC:6831 MONDO:0009562 NCBIGene:26523 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:3262 MONDO:0100038 Definitive 2025-11-19T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_674ffff8-b564-4cb4-a264-f3608feb6140-2025-11-19T110000.000Z AD Autosomal Dominant 0000006 NCBIGene:6469 biolink:gene_associated_with_condition MONDO:0007733 infores:clingen NCBIGene:6469 MONDO:0007733 Sufficient evidence for dosage pathogenicity 3 NCBIGene:81839 biolink:gene_associated_with_condition MONDO:0010831 infores:ubergraph knowledge_assertion manual_agent HGNC:15512 MONDO:0010831 NCBIGene:4016 biolink:gene_associated_with_condition MONDO:0100046 infores:ubergraph knowledge_assertion manual_agent HGNC:6665 MONDO:0100046 NCBIGene:2645 biolink:gene_associated_with_condition MONDO:0007453 infores:ubergraph knowledge_assertion manual_agent HGNC:4195 MONDO:0007453 NCBIGene:3284 biolink:gene_associated_with_condition MONDO:0008727 infores:ubergraph knowledge_assertion manual_agent HGNC:5218 MONDO:0008727 NCBIGene:199699 biolink:gene_associated_with_condition MONDO:0976134 infores:ubergraph knowledge_assertion manual_agent HGNC:26780 MONDO:0976134 NCBIGene:1650 biolink:gene_associated_with_condition MONDO:0013789 infores:ubergraph knowledge_assertion manual_agent HGNC:2728 MONDO:0013789 NCBIGene:148789 biolink:gene_associated_with_condition MONDO:0014071 infores:ubergraph knowledge_assertion manual_agent HGNC:28596 MONDO:0014071 NCBIGene:84628 biolink:gene_associated_with_condition MONDO:0032878 infores:ubergraph knowledge_assertion manual_agent HGNC:14288 MONDO:0032878 NCBIGene:2554 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:4075 MONDO:0005027 Definitive 2024-09-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60478d36-384e-4246-ba8a-730755d6f216-2024-09-03T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10229 biolink:gene_associated_with_condition MONDO:0957874 infores:ubergraph knowledge_assertion manual_agent HGNC:2244 MONDO:0957874 NCBIGene:267 biolink:gene_associated_with_condition MONDO:0957274 infores:ubergraph knowledge_assertion manual_agent HGNC:463 MONDO:0957274 NCBIGene:1630 biolink:gene_associated_with_condition MONDO:0054602 infores:ubergraph knowledge_assertion manual_agent HGNC:2701 MONDO:0054602 NCBIGene:1537 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2579 MONDO:0044970 Moderate 2022-03-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d620451-2b96-409b-a109-ceb035e1e68e-2022-03-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0011831 infores:ubergraph knowledge_assertion manual_agent HGNC:3052 MONDO:0011831 NCBIGene:283310 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:283310 MONDO:0700096 No evidence available 0 true NCBIGene:4436 biolink:gene_associated_with_condition MONDO:0030840 infores:ubergraph knowledge_assertion manual_agent HGNC:7325 MONDO:0030840 NCBIGene:1908 biolink:gene_associated_with_condition MONDO:0013201 infores:clingen HGNC:3178 MONDO:0013201 Limited 2018-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04e39ada-cd77-43f0-98f3-7b4a37668a96-2018-05-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:288 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen HGNC:494 MONDO:0001071 Moderate 2024-10-02T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_668a89e3-477d-434c-8ab4-0bc9ec3504de-2024-10-02T100000.000Z AR Autosomal Recessive 0000007 NCBIGene:7012 biolink:gene_associated_with_condition MONDO:0007485 infores:clingen HGNC:11727 MONDO:0007485 Definitive 2024-11-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfdf86d0-9441-40bf-a1da-ab2c85f775cd-2024-11-25T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0030527 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0030527 NCBIGene:51601 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:29569 MONDO:0009723 Moderate 2021-04-09T14:29:12.496Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55d66b81-fe31-4965-b5fc-483393af820d-2021-04-09T142912.496Z AR Autosomal Recessive 0000007 NCBIGene:9894 biolink:gene_associated_with_condition MONDO:0014848 infores:ubergraph knowledge_assertion manual_agent HGNC:29099 MONDO:0014848 NCBIGene:8148 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:11547 MONDO:0004976 Limited 2021-11-03T02:09:45.214Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_605446ae-fd1f-4451-bd49-643c24cd652e-2021-11-03T020945.214Z AD Autosomal Dominant 0000006 NCBIGene:2066 biolink:gene_associated_with_condition MONDO:0014223 infores:ubergraph knowledge_assertion manual_agent HGNC:3432 MONDO:0014223 NCBIGene:1120 biolink:gene_associated_with_condition MONDO:0011246 infores:clingen NCBIGene:1120 MONDO:0011246 Gene associated with autosomal recessive phenotype 30 NCBIGene:60506 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:60506 MONDO:0700096 No evidence available 0 true NCBIGene:51082 biolink:gene_associated_with_condition MONDO:0013385 infores:ubergraph knowledge_assertion manual_agent HGNC:20422 MONDO:0013385 NCBIGene:4792 biolink:gene_associated_with_condition MONDO:0012806 infores:ubergraph knowledge_assertion manual_agent HGNC:7797 MONDO:0012806 NCBIGene:54453 biolink:gene_associated_with_condition MONDO:0013115 infores:ubergraph knowledge_assertion manual_agent HGNC:18750 MONDO:0013115 NCBIGene:8291 biolink:gene_associated_with_condition MONDO:0016145 infores:ubergraph knowledge_assertion manual_agent HGNC:3097 MONDO:0016145 NCBIGene:7319 biolink:gene_associated_with_condition MONDO:0010461 infores:clingen NCBIGene:7319 MONDO:0010461 Definitive 2018-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94765cdb-fe12-4098-b28e-20cd58744271-2018-07-02T100000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9101 biolink:gene_associated_with_condition MONDO:0009050 infores:ubergraph knowledge_assertion manual_agent HGNC:12631 MONDO:0009050 NCBIGene:115399 biolink:gene_associated_with_condition MONDO:0032637 infores:clingen HGNC:25430 MONDO:0032637 Moderate 2024-11-19T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ceef14a8-34d2-41ac-8c03-47c5eaff8986-2024-11-19T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:55628 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55628 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6714 biolink:gene_associated_with_condition MONDO:0014837 infores:clingen HGNC:11283 MONDO:0014837 Moderate 2024-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3420133d-7a37-4f76-a3e7-6b9a0bc3803e-2024-06-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:374969 biolink:gene_associated_with_condition MONDO:0032816 infores:ubergraph knowledge_assertion manual_agent HGNC:29204 MONDO:0032816 NCBIGene:84295 biolink:gene_associated_with_condition MONDO:0010537 infores:clingen NCBIGene:84295 MONDO:0010537 Definitive 2018-02-21T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94ea5014-0a83-49ea-b001-fc2a8c24c0d9-2018-02-21T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3551 biolink:gene_associated_with_condition MONDO:0014267 infores:clingen HGNC:5960 MONDO:0014267 Definitive 2023-05-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93641cdc-81a2-478d-be13-43078592c09f-2023-05-25T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:92482 biolink:gene_associated_with_condition MONDO:0014446 infores:ubergraph knowledge_assertion manual_agent HGNC:28093 MONDO:0014446 NCBIGene:80326 biolink:gene_associated_with_condition MONDO:0100358 infores:clingen HGNC:13829 MONDO:0100358 Definitive 2022-05-21T02:55:24.674Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2a537f1-f04c-4e08-9cca-80122e36f51a-2022-05-21T025524.674Z SD Semidominant 0032113 NCBIGene:56246 biolink:gene_associated_with_condition MONDO:0011826 infores:ubergraph knowledge_assertion manual_agent HGNC:1304 MONDO:0011826 NCBIGene:8643 biolink:gene_associated_with_condition MONDO:0007187 infores:clingen HGNC:9586 MONDO:0007187 Limited 2018-10-12T21:39:08.660Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d189ca00-ba80-49af-9b2e-8523c8d29a44-2018-10-12T213908.660Z AD Autosomal Dominant 0000006 NCBIGene:284098 biolink:gene_associated_with_condition MONDO:0014457 infores:clingen NCBIGene:284098 MONDO:0014457 Limited 2025-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7e3ea0a-9e1b-4e4b-8c23-a9062a5535b7-2025-02-21T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3420 biolink:gene_associated_with_condition MONDO:0800393 infores:clingen HGNC:5385 MONDO:0800393 Moderate 2022-12-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5617e337-aa89-44a0-afe0-e142ced68619-2022-12-01T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:9829 MONDO:0009026 Disputed 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67081421-a4a3-4b62-88e0-4a78d19859ba-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55679 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:16084 MONDO:0015152 Disputed 2024-11-12T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00284b9e-fc0e-4667-ad1b-fd68f2cdc490-2024-11-12T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:80816 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:29357 MONDO:0000508 Definitive 2021-10-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_947933aa-f0f8-4909-abd8-2984dd11dcb8-2021-10-06T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:4695 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7685 MONDO:0044970 Definitive 2023-08-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_846591ba-d5d5-40fb-b769-9fbb6fcad98b-2023-08-07T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:4171 biolink:gene_associated_with_condition MONDO:0014853 infores:ubergraph knowledge_assertion manual_agent HGNC:6944 MONDO:0014853 NCBIGene:166785 biolink:gene_associated_with_condition MONDO:0009613 infores:clingen NCBIGene:166785 MONDO:0009613 Definitive 2022-07-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b81bb9e-5f71-47bf-b187-5eef83d91d57-2022-07-13T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3028 biolink:gene_associated_with_condition MONDO:0010327 infores:ubergraph knowledge_assertion manual_agent HGNC:4800 MONDO:0010327 NCBIGene:7468 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7468 MONDO:0700096 No evidence available 0 true NCBIGene:9289 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9289 MONDO:0700096 No evidence available 0 true NCBIGene:6873 biolink:gene_associated_with_condition MONDO:0014273 infores:ubergraph knowledge_assertion manual_agent HGNC:11536 MONDO:0014273 NCBIGene:1111 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:1925 MONDO:0016248 No Known Disease Relationship 2016-10-12T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8504 AD Autosomal Dominant 0000006 NCBIGene:345643 biolink:gene_associated_with_condition MONDO:0032872 infores:ubergraph knowledge_assertion manual_agent HGNC:40050 MONDO:0032872 NCBIGene:6535 biolink:gene_associated_with_condition MONDO:0010305 infores:clingen NCBIGene:6535 MONDO:0010305 Definitive 2020-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3795f0ae-7668-47b8-b69e-9c686b82bd0a-2020-02-10T170000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:399 biolink:gene_associated_with_condition MONDO:0032666 infores:ubergraph knowledge_assertion manual_agent HGNC:686 MONDO:0032666 NCBIGene:3028 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3028 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:152330 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:152330 MONDO:0700096 No evidence available 0 true NCBIGene:55770 biolink:gene_associated_with_condition MONDO:0859141 infores:ubergraph knowledge_assertion manual_agent HGNC:24968 MONDO:0859141 NCBIGene:4205 biolink:gene_associated_with_condition MONDO:0012011 infores:ubergraph knowledge_assertion manual_agent HGNC:6993 MONDO:0012011 NCBIGene:54809 biolink:gene_associated_with_condition MONDO:0030801 infores:ubergraph knowledge_assertion manual_agent HGNC:1348 MONDO:0030801 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0012690 infores:ubergraph knowledge_assertion manual_agent HGNC:9829 MONDO:0012690 NCBIGene:23676 biolink:gene_associated_with_condition MONDO:0010238 infores:ubergraph knowledge_assertion manual_agent HGNC:11122 MONDO:0010238 NCBIGene:57822 biolink:gene_associated_with_condition MONDO:0011712 infores:ubergraph knowledge_assertion manual_agent HGNC:25839 MONDO:0011712 NCBIGene:5830 biolink:gene_associated_with_condition MONDO:0014743 infores:ubergraph knowledge_assertion manual_agent HGNC:9719 MONDO:0014743 NCBIGene:7837 biolink:gene_associated_with_condition MONDO:0010015 infores:clingen NCBIGene:7837 MONDO:0010015 Definitive 2023-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905b07f8-ed15-4c25-9579-edac5521c699-2023-06-15T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23135 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:23135 MONDO:0000508 Limited 2022-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_010fe1d1-312f-45fa-93ca-887875c53607-2022-02-18T170000.000Z AR Autosomal Recessive 0000007 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51715 biolink:gene_associated_with_condition MONDO:0008710 infores:ubergraph knowledge_assertion manual_agent HGNC:14263 MONDO:0008710 NCBIGene:92345 biolink:gene_associated_with_condition MONDO:0957261 infores:ubergraph knowledge_assertion manual_agent HGNC:25126 MONDO:0957261 NCBIGene:22948 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22948 MONDO:0700096 No evidence available 0 true NCBIGene:657 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:657 MONDO:0700096 No evidence available 0 true NCBIGene:1954 biolink:gene_associated_with_condition MONDO:0013998 infores:ubergraph knowledge_assertion manual_agent HGNC:3233 MONDO:0013998 NCBIGene:999 biolink:gene_associated_with_condition MONDO:0100488 infores:clingen HGNC:1748 MONDO:0100488 Definitive 2024-03-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14223ff7-e6b0-4c60-bee6-df55301d2017-2024-03-22T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2623 biolink:gene_associated_with_condition MONDO:0020458 infores:ubergraph knowledge_assertion manual_agent HGNC:4170 MONDO:0020458 NCBIGene:253738 biolink:gene_associated_with_condition MONDO:0015021 infores:ubergraph knowledge_assertion manual_agent HGNC:19087 MONDO:0015021 NCBIGene:1071 biolink:gene_associated_with_condition MONDO:0007744 infores:ubergraph knowledge_assertion manual_agent HGNC:1869 MONDO:0007744 NCBIGene:3690 biolink:gene_associated_with_condition MONDO:0030996 infores:ubergraph knowledge_assertion manual_agent HGNC:6156 MONDO:0030996 NCBIGene:84230 biolink:gene_associated_with_condition MONDO:0975957 infores:ubergraph knowledge_assertion manual_agent HGNC:25075 MONDO:0975957 NCBIGene:4541 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7462 MONDO:0044970 Definitive 2023-05-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f581c96-e3cc-49bb-aa2b-98650efa4157-2023-05-03T160000.000Z MT Mitochondrial 0001427 NCBIGene:859 biolink:gene_associated_with_condition MONDO:0016146 infores:ubergraph knowledge_assertion manual_agent HGNC:1529 MONDO:0016146 NCBIGene:7456 biolink:gene_associated_with_condition MONDO:0013779 infores:ubergraph knowledge_assertion manual_agent HGNC:12736 MONDO:0013779 NCBIGene:10847 biolink:gene_associated_with_condition MONDO:0007621 infores:clingen HGNC:16974 MONDO:0007621 Definitive 2023-08-01T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b414014-3a99-48f2-aac1-20903838af0f-2023-08-01T063000.000Z AD Autosomal Dominant 0000006 NCBIGene:7138 biolink:gene_associated_with_condition MONDO:0957284 infores:ubergraph knowledge_assertion manual_agent HGNC:11948 MONDO:0957284 NCBIGene:84173 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:26158 MONDO:0019497 Limited 2021-11-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86999665-43b6-4824-b5e5-81b2a6dd8034-2021-11-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4179 biolink:gene_associated_with_condition MONDO:0016244 infores:clingen HGNC:6953 MONDO:0016244 Definitive 2024-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bddaec4f-9f57-41b7-81a4-2f6ff3fc5e7b-2024-06-27T160000.000Z SD Semidominant 0032113 NCBIGene:55027 biolink:gene_associated_with_condition MONDO:0031071 infores:ubergraph knowledge_assertion manual_agent HGNC:26087 MONDO:0031071 NCBIGene:6304 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:10541 MONDO:0100038 Definitive 2024-09-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08d76b58-f875-484e-986c-ac0dd559977c-2024-09-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4882 biolink:gene_associated_with_condition MONDO:0014401 infores:ubergraph knowledge_assertion manual_agent HGNC:7944 MONDO:0014401 NCBIGene:5079 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5079 MONDO:0700096 No evidence available 0 true NCBIGene:7283 biolink:gene_associated_with_condition MONDO:0014171 infores:ubergraph knowledge_assertion manual_agent HGNC:12417 MONDO:0014171 NCBIGene:23314 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23314 MONDO:0700096 No evidence available 0 true NCBIGene:10075 biolink:gene_associated_with_condition MONDO:0010407 infores:ubergraph knowledge_assertion manual_agent HGNC:30892 MONDO:0010407 NCBIGene:11091 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:12757 MONDO:0005453 Limited 2024-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1987d75-7cdc-4d6f-9d71-f00b3bedf7c3-2024-07-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4571 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7494 MONDO:0044970 Definitive 2022-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60c99f15-3a4b-4d7f-be1c-5edde18a4396-2022-12-19T170000.000Z MT Mitochondrial 0001427 NCBIGene:9241 biolink:gene_associated_with_condition MONDO:0008519 infores:clingen NCBIGene:9241 MONDO:0008519 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10073 biolink:gene_associated_with_condition MONDO:0100584 infores:clingen HGNC:14245 MONDO:0100584 Strong 2024-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06303378-ec98-485e-bbfe-dcbd5c5ebea3-2024-10-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9570 biolink:gene_associated_with_condition MONDO:0013526 infores:ubergraph knowledge_assertion manual_agent HGNC:4431 MONDO:0013526 NCBIGene:1369 biolink:gene_associated_with_condition MONDO:0008910 infores:ubergraph knowledge_assertion manual_agent HGNC:2312 MONDO:0008910 NCBIGene:81789 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:81789 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:477 biolink:gene_associated_with_condition MONDO:0859204 infores:clingen HGNC:800 MONDO:0859204 Definitive 2025-07-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb2e7696-8d5d-48a2-892f-c8fad53c65f8-2025-07-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:83483 biolink:gene_associated_with_condition MONDO:0032586 infores:ubergraph knowledge_assertion manual_agent HGNC:13635 MONDO:0032586 NCBIGene:3938 biolink:gene_associated_with_condition MONDO:0009115 infores:clingen NCBIGene:3938 MONDO:0009115 Gene associated with autosomal recessive phenotype 30 NCBIGene:10516 biolink:gene_associated_with_condition MONDO:0018776 infores:clingen HGNC:3602 MONDO:0018776 Moderate 2023-11-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a863341a-9dcf-4a4f-a82d-7edb5e63fe92-2023-11-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1288 biolink:gene_associated_with_condition MONDO:0010484 infores:clingen HGNC:2208 MONDO:0010484 Limited 2022-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d026ef00-c6f3-4aa8-a61a-b354b68fe043-2022-02-16T170000.000Z XL X-linked 0001417 NCBIGene:4617 biolink:gene_associated_with_condition MONDO:0032565 infores:ubergraph knowledge_assertion manual_agent HGNC:7565 MONDO:0032565 NCBIGene:1663 biolink:gene_associated_with_condition MONDO:0013252 infores:ubergraph knowledge_assertion manual_agent HGNC:2736 MONDO:0013252 NCBIGene:5966 biolink:gene_associated_with_condition MONDO:0030498 infores:ubergraph knowledge_assertion manual_agent HGNC:9954 MONDO:0030498 NCBIGene:166378 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:18119 MONDO:0800439 Definitive 2024-07-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3ae4261-8438-496b-8295-a9fdb5785436-2024-07-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:27185 biolink:gene_associated_with_condition MONDO:0011498 infores:ubergraph knowledge_assertion manual_agent HGNC:2888 MONDO:0011498 NCBIGene:1806 biolink:gene_associated_with_condition MONDO:0010130 infores:ubergraph knowledge_assertion manual_agent HGNC:3012 MONDO:0010130 NCBIGene:126695 biolink:gene_associated_with_condition MONDO:0015024 infores:ubergraph knowledge_assertion manual_agent HGNC:26624 MONDO:0015024 NCBIGene:2954 biolink:gene_associated_with_condition MONDO:0060527 infores:clingen HGNC:4643 MONDO:0060527 Moderate 2024-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c287e0b-88be-4fbb-82a6-a8c70d430506-2024-12-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:11222 biolink:gene_associated_with_condition MONDO:0013811 infores:ubergraph knowledge_assertion manual_agent HGNC:10379 MONDO:0013811 NCBIGene:100147744 biolink:gene_associated_with_condition MONDO:0700263 infores:ubergraph knowledge_assertion manual_agent HGNC:34033 MONDO:0700263 NCBIGene:4726 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4726 MONDO:0700096 No evidence available 0 true NCBIGene:50944 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:50944 MONDO:0100038 Definitive 2024-03-20T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57f9ab85-914e-4eec-ae66-efc80d612ef8-2024-03-20T040000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:28982 biolink:gene_associated_with_condition MONDO:0100449 infores:ubergraph knowledge_assertion manual_agent HGNC:24682 MONDO:0100449 NCBIGene:6845 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6845 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:54345 biolink:gene_associated_with_condition MONDO:0011914 infores:ubergraph knowledge_assertion manual_agent HGNC:11194 MONDO:0011914 NCBIGene:60675 biolink:gene_associated_with_condition MONDO:0012528 infores:ubergraph knowledge_assertion manual_agent HGNC:18455 MONDO:0012528 NCBIGene:7048 biolink:gene_associated_with_condition MONDO:0012427 infores:ubergraph knowledge_assertion manual_agent HGNC:11773 MONDO:0012427 NCBIGene:4322 biolink:gene_associated_with_condition MONDO:0011198 infores:ubergraph knowledge_assertion manual_agent HGNC:7159 MONDO:0011198 NCBIGene:4598 biolink:gene_associated_with_condition MONDO:0017708 infores:clingen HGNC:7530 MONDO:0017708 Definitive 2025-03-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e02aaac0-1049-4421-b7eb-00d450ceaf1d-2025-03-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:83893 biolink:gene_associated_with_condition MONDO:0007060 infores:ubergraph knowledge_assertion manual_agent HGNC:29935 MONDO:0007060 NCBIGene:64327 biolink:gene_associated_with_condition MONDO:0017454 infores:ubergraph knowledge_assertion manual_agent HGNC:13243 MONDO:0017454 NCBIGene:657 biolink:gene_associated_with_condition MONDO:0017380 infores:clingen NCBIGene:657 MONDO:0017380 Definitive 2022-12-30T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7004b10e-0eb6-4517-8deb-2d4b7264d2f8-2022-12-30T180000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5795 biolink:gene_associated_with_condition MONDO:0957578 infores:ubergraph knowledge_assertion manual_agent HGNC:9673 MONDO:0957578 NCBIGene:79228 biolink:gene_associated_with_condition MONDO:0013362 infores:ubergraph knowledge_assertion manual_agent HGNC:28369 MONDO:0013362 NCBIGene:11284 biolink:gene_associated_with_condition MONDO:0013254 infores:ubergraph knowledge_assertion manual_agent HGNC:9154 MONDO:0013254 NCBIGene:388662 biolink:gene_associated_with_condition MONDO:0014559 infores:ubergraph knowledge_assertion manual_agent HGNC:31399 MONDO:0014559 NCBIGene:8929 biolink:gene_associated_with_condition MONDO:0800026 infores:ubergraph knowledge_assertion manual_agent HGNC:9143 MONDO:0800026 NCBIGene:57519 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57519 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4878 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7939 MONDO:0005021 No Known Disease Relationship 2024-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d85124b6-b754-4a0f-bbe4-3bbf1ca95283-2024-09-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10370 biolink:gene_associated_with_condition MONDO:0013750 infores:ubergraph knowledge_assertion manual_agent HGNC:1987 MONDO:0013750 NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen NCBIGene:6262 MONDO:0017990 Definitive 2021-01-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da07a67-9d04-448b-843b-39dac372cb59-2021-01-20T050000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:6201 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6201 MONDO:0700096 No evidence available 0 true Some evidence for dosage pathogenicity 2 NCBIGene:26128 biolink:gene_associated_with_condition MONDO:0012280 infores:clingen NCBIGene:26128 MONDO:0012280 Definitive 2023-07-25T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02e4e47a-f888-4807-9eb6-f1061a6c124c-2023-07-25T190000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3990 biolink:gene_associated_with_condition MONDO:0013533 infores:ubergraph knowledge_assertion manual_agent HGNC:6619 MONDO:0013533 NCBIGene:51300 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:1321 MONDO:0044970 Definitive 2024-02-22T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d27e1ad8-d7b4-466e-bd70-9363abd2f31c-2024-02-22T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:5328 biolink:gene_associated_with_condition MONDO:0011136 infores:clingen HGNC:9052 MONDO:0011136 Moderate 2024-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ffd0133-1004-4a53-b38d-940c257e56c1-2024-02-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23607 biolink:gene_associated_with_condition MONDO:0011917 infores:clingen HGNC:14258 MONDO:0011917 Definitive 2024-04-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4bd2904-da48-4a7d-875e-bc90d56f59da-2024-04-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79659 biolink:gene_associated_with_condition MONDO:0013127 infores:ubergraph knowledge_assertion manual_agent HGNC:2962 MONDO:0013127 NCBIGene:387715 biolink:gene_associated_with_condition MONDO:0013416 infores:ubergraph knowledge_assertion manual_agent HGNC:32685 MONDO:0013416 NCBIGene:5949 biolink:gene_associated_with_condition MONDO:0014093 infores:clingen NCBIGene:5949 MONDO:0014093 Gene associated with autosomal recessive phenotype 30 NCBIGene:3060 biolink:gene_associated_with_condition MONDO:0008062 infores:ubergraph knowledge_assertion manual_agent HGNC:4847 MONDO:0008062 NCBIGene:2078 biolink:gene_associated_with_condition MONDO:0957954 infores:ubergraph knowledge_assertion manual_agent HGNC:3446 MONDO:0957954 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0100135 infores:ubergraph knowledge_assertion manual_agent HGNC:10585 MONDO:0100135 NCBIGene:5551 biolink:gene_associated_with_condition MONDO:0011337 infores:ubergraph knowledge_assertion manual_agent HGNC:9360 MONDO:0011337 NCBIGene:6657 biolink:gene_associated_with_condition MONDO:0008799 infores:clingen NCBIGene:6657 MONDO:0008799 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3702 biolink:gene_associated_with_condition MONDO:0013081 infores:ubergraph knowledge_assertion manual_agent HGNC:6171 MONDO:0013081 NCBIGene:7780 biolink:gene_associated_with_condition MONDO:0011973 infores:ubergraph knowledge_assertion manual_agent HGNC:11013 MONDO:0011973 NCBIGene:26057 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:23575 MONDO:0800439 Definitive 2024-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48a9765c-f7ae-46f4-aa6f-7fa95f81404f-2024-12-12T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2072 biolink:gene_associated_with_condition MONDO:0012590 infores:ubergraph knowledge_assertion manual_agent HGNC:3436 MONDO:0012590 NCBIGene:2895 biolink:gene_associated_with_condition MONDO:0014530 infores:ubergraph knowledge_assertion manual_agent HGNC:4576 MONDO:0014530 NCBIGene:22871 biolink:gene_associated_with_condition MONDO:0030004 infores:ubergraph knowledge_assertion manual_agent HGNC:14291 MONDO:0030004 NCBIGene:146845 biolink:gene_associated_with_condition MONDO:0030474 infores:ubergraph knowledge_assertion manual_agent HGNC:16053 MONDO:0030474 NCBIGene:58528 biolink:gene_associated_with_condition MONDO:0859328 infores:ubergraph knowledge_assertion manual_agent HGNC:19903 MONDO:0859328 NCBIGene:2678 biolink:gene_associated_with_condition MONDO:0009285 infores:ubergraph knowledge_assertion manual_agent HGNC:4250 MONDO:0009285 NCBIGene:23321 biolink:gene_associated_with_condition MONDO:0014208 infores:ubergraph knowledge_assertion manual_agent HGNC:15974 MONDO:0014208 NCBIGene:9990 biolink:gene_associated_with_condition MONDO:0000902 infores:ubergraph knowledge_assertion manual_agent HGNC:10914 MONDO:0000902 NCBIGene:23165 biolink:gene_associated_with_condition MONDO:0014818 infores:ubergraph knowledge_assertion manual_agent HGNC:18658 MONDO:0014818 NCBIGene:55157 biolink:gene_associated_with_condition MONDO:0012622 infores:clingen NCBIGene:55157 MONDO:0012622 Gene associated with autosomal recessive phenotype 30 NCBIGene:8722 biolink:gene_associated_with_condition MONDO:0019260 infores:clingen HGNC:2531 MONDO:0019260 Definitive 2022-04-21T14:21:41.505Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9079835-78f4-4759-a43a-9786270dc02e-2022-04-21T142141.505Z AR Autosomal Recessive 0000007 NCBIGene:161725 biolink:gene_associated_with_condition MONDO:0968979 infores:ubergraph knowledge_assertion manual_agent HGNC:20718 MONDO:0968979 NCBIGene:9060 biolink:gene_associated_with_condition MONDO:0019666 infores:ubergraph knowledge_assertion manual_agent HGNC:8604 MONDO:0019666 NCBIGene:27148 biolink:gene_associated_with_condition MONDO:0030332 infores:clingen HGNC:17209 MONDO:0030332 Moderate 2024-12-05T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7881f30d-7281-42d0-9352-0e7fff26f14f-2024-12-05T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:5160 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:8806 MONDO:0009723 Definitive 2019-04-08T16:12:03.224Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a579324c-3586-4636-9192-c2ea29391a4e-2019-04-08T161203.224Z XL X-linked 0001417 NCBIGene:1105 biolink:gene_associated_with_condition MONDO:0060568 infores:ubergraph knowledge_assertion manual_agent HGNC:1915 MONDO:0060568 NCBIGene:128637 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:128637 MONDO:0700096 No evidence available 0 true NCBIGene:23512 biolink:gene_associated_with_condition MONDO:0032916 infores:ubergraph knowledge_assertion manual_agent HGNC:17101 MONDO:0032916 NCBIGene:494513 biolink:gene_associated_with_condition MONDO:0012445 infores:ubergraph knowledge_assertion manual_agent HGNC:29502 MONDO:0012445 NCBIGene:55384 biolink:gene_associated_with_condition MONDO:0016779 infores:clingen NCBIGene:55384 MONDO:0016779 true Little evidence for dosage pathogenicity 1 NCBIGene:10018 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10018 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:10371 biolink:gene_associated_with_condition MONDO:0013961 infores:ubergraph knowledge_assertion manual_agent HGNC:10723 MONDO:0013961 NCBIGene:9459 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:685 MONDO:0019181 Disputed 2020-10-19T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d248ef99-6ff8-43d8-a24e-dfce6b2db1c8-2020-10-19T220000.000Z XL X-linked 0001417 NCBIGene:9657 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:28949 MONDO:0005308 Definitive 2024-10-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6165d113-390f-43e5-84fe-05fd7b32b10a-2024-10-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10892 biolink:gene_associated_with_condition MONDO:0014197 infores:clingen NCBIGene:10892 MONDO:0014197 Definitive 2022-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_537efc87-5f45-489b-9aa0-6bd3e029754e-2022-07-21T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57096 biolink:gene_associated_with_condition MONDO:0013446 infores:clingen NCBIGene:57096 MONDO:0013446 Gene associated with autosomal recessive phenotype 30 NCBIGene:513 biolink:gene_associated_with_condition MONDO:0020858 infores:ubergraph knowledge_assertion manual_agent HGNC:837 MONDO:0020858 NCBIGene:54949 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen NCBIGene:54949 MONDO:0017366 Definitive 2021-06-17T02:00:32.120Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f70f16ee-a8b5-4f81-bd98-270fda25ffa4-2021-06-17T020032.120Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0100175 infores:clingen HGNC:12403 MONDO:0100175 Definitive 2022-01-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41ead80d-f134-43e5-9373-ac55bdcfc0a1-2022-01-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9791 biolink:gene_associated_with_condition MONDO:0007892 infores:ubergraph knowledge_assertion manual_agent HGNC:9587 MONDO:0007892 NCBIGene:286053 biolink:gene_associated_with_condition MONDO:0014991 infores:clingen HGNC:26513 MONDO:0014991 Moderate 2025-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca7846fa-7685-4f47-b7e4-f4a9e3877664-2025-02-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3798 biolink:gene_associated_with_condition MONDO:0024237 infores:clingen HGNC:6323 MONDO:0024237 Definitive 2023-07-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aad7dc3e-b664-4ffb-af0f-4eba346b43e7-2023-07-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5332 biolink:gene_associated_with_condition MONDO:0013845 infores:ubergraph knowledge_assertion manual_agent HGNC:9059 MONDO:0013845 NCBIGene:3097 biolink:gene_associated_with_condition MONDO:0014858 infores:ubergraph knowledge_assertion manual_agent HGNC:4921 MONDO:0014858 NCBIGene:4117 biolink:gene_associated_with_condition MONDO:0700229 infores:ubergraph knowledge_assertion manual_agent HGNC:6816 MONDO:0700229 NCBIGene:3703 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3703 MONDO:0700096 No evidence available 0 true NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0014113 infores:ubergraph knowledge_assertion manual_agent HGNC:6840 MONDO:0014113 NCBIGene:9180 biolink:gene_associated_with_condition MONDO:0024522 infores:ubergraph knowledge_assertion manual_agent HGNC:8507 MONDO:0024522 NCBIGene:63899 biolink:gene_associated_with_condition MONDO:0033566 infores:ubergraph knowledge_assertion manual_agent HGNC:26208 MONDO:0033566 NCBIGene:158866 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:158866 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7841 biolink:gene_associated_with_condition MONDO:0011629 infores:ubergraph knowledge_assertion manual_agent HGNC:24862 MONDO:0011629 NCBIGene:1788 biolink:gene_associated_with_condition MONDO:0014382 infores:ubergraph knowledge_assertion manual_agent HGNC:2978 MONDO:0014382 NCBIGene:79719 biolink:gene_associated_with_condition MONDO:0007858 infores:ubergraph knowledge_assertion manual_agent HGNC:25662 MONDO:0007858 NCBIGene:6326 biolink:gene_associated_with_condition MONDO:0011904 infores:ubergraph knowledge_assertion manual_agent HGNC:10588 MONDO:0011904 NCBIGene:23268 biolink:gene_associated_with_condition MONDO:0032735 infores:ubergraph knowledge_assertion manual_agent HGNC:30373 MONDO:0032735 NCBIGene:83871 biolink:gene_associated_with_condition MONDO:0958230 infores:ubergraph knowledge_assertion manual_agent HGNC:16519 MONDO:0958230 NCBIGene:2672 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2672 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:123016 biolink:gene_associated_with_condition MONDO:1040049 infores:ubergraph knowledge_assertion manual_agent HGNC:20087 MONDO:1040049 NCBIGene:5880 biolink:gene_associated_with_condition MONDO:0033555 infores:clingen HGNC:9802 MONDO:0033555 Moderate 2021-10-19T15:46:13.500Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8191c879-cc6a-4c5e-9ceb-7101aa7cbc15-2021-10-19T154613.500Z AR Autosomal Recessive 0000007 NCBIGene:2623 biolink:gene_associated_with_condition MONDO:0100089 infores:ubergraph knowledge_assertion manual_agent HGNC:4170 MONDO:0100089 NCBIGene:3848 biolink:gene_associated_with_condition MONDO:0007808 infores:ubergraph knowledge_assertion manual_agent HGNC:6412 MONDO:0007808 NCBIGene:23386 biolink:gene_associated_with_condition MONDO:0015974 infores:clingen HGNC:22208 MONDO:0015974 Limited 2025-10-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48e17d44-6696-47ce-88fc-8e4bca6c420a-2025-10-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:126326 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:18183 MONDO:0019497 Definitive 2017-08-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5feebe1-59a9-4e28-ad85-aec5cad6b54e-2017-08-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51816 biolink:gene_associated_with_condition MONDO:0100317 infores:clingen HGNC:1839 MONDO:0100317 Definitive 2023-05-30T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e05f1338-6a58-4991-af3b-6433bd165a9f-2023-05-30T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:121512 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:121512 MONDO:0700096 No evidence available 0 true NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7139 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:491 biolink:gene_associated_with_condition MONDO:0019587 infores:clingen HGNC:815 MONDO:0019587 Definitive 2025-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_193d07d0-5e1a-4ea1-84d6-377eb8fb5e7f-2025-07-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23594 biolink:gene_associated_with_condition MONDO:0013430 infores:clingen NCBIGene:23594 MONDO:0013430 Definitive 2023-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0054af97-33ac-4c63-8871-d948d6d184d9-2023-07-21T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2627 biolink:gene_associated_with_condition MONDO:0010802 infores:ubergraph knowledge_assertion manual_agent HGNC:4174 MONDO:0010802 NCBIGene:1788 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1788 MONDO:0700096 No evidence available 0 true NCBIGene:100151683 biolink:gene_associated_with_condition MONDO:0100558 infores:clingen HGNC:34016 MONDO:0100558 Definitive 2024-08-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a4030c4-048a-4bc3-8101-3ecf28747f96-2024-08-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26276 biolink:gene_associated_with_condition MONDO:0008822 infores:clingen HGNC:12712 MONDO:0008822 Definitive 2021-03-24T16:05:34.056Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38d685c-9aee-4660-9228-4119a4fd583d-2021-03-24T160534.056Z AR Autosomal Recessive 0000007 NCBIGene:8929 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8929 MONDO:0700096 No evidence available 0 true NCBIGene:84153 biolink:gene_associated_with_condition MONDO:0700258 infores:clingen HGNC:24116 MONDO:0700258 Definitive 2024-08-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f65b554-f11e-41ff-8a6f-dcb5d8484122-2024-08-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:83723 biolink:gene_associated_with_condition MONDO:0030440 infores:ubergraph knowledge_assertion manual_agent HGNC:25295 MONDO:0030440 NCBIGene:51473 biolink:gene_associated_with_condition MONDO:0014537 infores:ubergraph knowledge_assertion manual_agent HGNC:18141 MONDO:0014537 NCBIGene:1748 biolink:gene_associated_with_condition MONDO:0014772 infores:ubergraph knowledge_assertion manual_agent HGNC:2917 MONDO:0014772 NCBIGene:51251 biolink:gene_associated_with_condition MONDO:0009946 infores:ubergraph knowledge_assertion manual_agent HGNC:17820 MONDO:0009946 NCBIGene:6872 biolink:gene_associated_with_condition MONDO:0010500 infores:ubergraph knowledge_assertion manual_agent HGNC:11535 MONDO:0010500 NCBIGene:9895 biolink:gene_associated_with_condition MONDO:0014016 infores:clingen NCBIGene:9895 MONDO:0014016 Gene associated with autosomal recessive phenotype 30 NCBIGene:859 biolink:gene_associated_with_condition MONDO:0019947 infores:ubergraph knowledge_assertion manual_agent HGNC:1529 MONDO:0019947 NCBIGene:10319 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:6494 MONDO:0100038 Disputed 2020-08-31T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ff89702-c97e-4ef9-91ce-2e37b66efd84-2020-08-31T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:23308 biolink:gene_associated_with_condition MONDO:0015131 infores:clingen HGNC:17087 MONDO:0015131 Moderate 2023-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_312b156d-fc56-48da-9d10-1cd034afbb84-2023-04-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3714 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:6189 MONDO:0015152 Moderate 2024-08-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16f43ce9-05b5-437d-a35e-b1c379c0ba7a-2024-08-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:58 biolink:gene_associated_with_condition MONDO:0100084 infores:clingen HGNC:129 MONDO:0100084 Definitive 2024-02-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_098a7b3a-26ab-4915-8187-f6db682cef4f-2024-02-26T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4644 biolink:gene_associated_with_condition MONDO:0008962 infores:clingen NCBIGene:4644 MONDO:0008962 Definitive 2021-07-27T14:49:01.941Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_792cf7b2-5ca7-4d85-95a5-a43eaa52b180-2021-07-27T144901.941Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7428 biolink:gene_associated_with_condition MONDO:0009892 infores:ubergraph knowledge_assertion manual_agent HGNC:12687 MONDO:0009892 NCBIGene:84700 biolink:gene_associated_with_condition MONDO:0014689 infores:ubergraph knowledge_assertion manual_agent HGNC:18150 MONDO:0014689 NCBIGene:55120 biolink:gene_associated_with_condition MONDO:0013566 infores:clingen HGNC:20748 MONDO:0013566 Definitive 2020-07-30T20:38:45.671Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0cb5f-4859-4b28-b647-3f8226fe5921-2020-07-30T203845.671Z AR Autosomal Recessive 0000007 NCBIGene:22854 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:23319 MONDO:0100038 Limited 2021-02-01T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c648acf-5801-481b-a1c4-f950e99d4d96-2021-02-01T230000.000Z AD Autosomal Dominant 0000006 NCBIGene:84059 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84059 MONDO:0700096 No evidence available 0 true NCBIGene:55599 biolink:gene_associated_with_condition MONDO:0032569 infores:ubergraph knowledge_assertion manual_agent HGNC:18666 MONDO:0032569 NCBIGene:3557 biolink:gene_associated_with_condition MONDO:0012966 infores:ubergraph knowledge_assertion manual_agent HGNC:6000 MONDO:0012966 NCBIGene:2495 biolink:gene_associated_with_condition MONDO:0014225 infores:clingen HGNC:3976 MONDO:0014225 Limited 2025-08-25T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc52d02d-1b04-4add-8922-cd72fbe76867-2025-08-25T063000.000Z AD Autosomal Dominant 0000006 NCBIGene:6622 biolink:gene_associated_with_condition MONDO:0008200 infores:ubergraph knowledge_assertion manual_agent HGNC:11138 MONDO:0008200 NCBIGene:65125 biolink:gene_associated_with_condition MONDO:0013778 infores:ubergraph knowledge_assertion manual_agent HGNC:14540 MONDO:0013778 NCBIGene:3892 biolink:gene_associated_with_condition MONDO:0700343 infores:ubergraph knowledge_assertion manual_agent HGNC:6463 MONDO:0700343 NCBIGene:1836 biolink:gene_associated_with_condition MONDO:0100592 infores:clingen HGNC:10994 MONDO:0100592 Definitive 2020-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48af0749-5b01-4feb-b3a0-9d08cb8e7235-2020-08-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:667 biolink:gene_associated_with_condition MONDO:0013839 infores:ubergraph knowledge_assertion manual_agent HGNC:1090 MONDO:0013839 NCBIGene:23040 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:7623 MONDO:0800439 Definitive 2020-08-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32897f25-e36a-4ec8-9401-0374a95e06a5-2020-08-18T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:1009 biolink:gene_associated_with_condition MONDO:0008885 infores:clingen HGNC:1750 MONDO:0008885 Definitive 2024-05-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41cee7da-44c3-49fa-b174-80ae3da5d153-2024-05-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:498 biolink:gene_associated_with_condition MONDO:0957254 infores:ubergraph knowledge_assertion manual_agent HGNC:823 MONDO:0957254 NCBIGene:2961 biolink:gene_associated_with_condition MONDO:0014841 infores:ubergraph knowledge_assertion manual_agent HGNC:4651 MONDO:0014841 NCBIGene:8085 biolink:gene_associated_with_condition MONDO:0007843 infores:clingen NCBIGene:8085 MONDO:0007843 Definitive 2025-08-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15029985-0c1a-4835-95fe-eb05dedaf85c-2025-08-14T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:80036 biolink:gene_associated_with_condition MONDO:0859365 infores:ubergraph knowledge_assertion manual_agent HGNC:17992 MONDO:0859365 NCBIGene:84733 biolink:gene_associated_with_condition MONDO:0013120 infores:ubergraph knowledge_assertion manual_agent HGNC:1552 MONDO:0013120 NCBIGene:88 biolink:gene_associated_with_condition MONDO:0700349 infores:clingen HGNC:164 MONDO:0700349 Definitive 2025-07-23T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6710e329-d391-4355-85a5-02d03f8791a3-2025-07-23T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:23013 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23013 MONDO:0700096 No evidence available 0 true NCBIGene:9187 biolink:gene_associated_with_condition MONDO:0013450 infores:clingen NCBIGene:9187 MONDO:0013450 Gene associated with autosomal recessive phenotype 30 NCBIGene:111 biolink:gene_associated_with_condition MONDO:0800028 infores:ubergraph knowledge_assertion manual_agent HGNC:236 MONDO:0800028 NCBIGene:26047 biolink:gene_associated_with_condition MONDO:0012801 infores:ubergraph knowledge_assertion manual_agent HGNC:13830 MONDO:0012801 NCBIGene:157570 biolink:gene_associated_with_condition MONDO:0100253 infores:clingen NCBIGene:157570 MONDO:0100253 Definitive 2021-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4020105e-bc43-4365-9540-9a8f77b37fae-2021-03-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9391 biolink:gene_associated_with_condition MONDO:0975806 infores:ubergraph knowledge_assertion manual_agent HGNC:14280 MONDO:0975806 NCBIGene:5962 biolink:gene_associated_with_condition MONDO:0012602 infores:clingen NCBIGene:5962 MONDO:0012602 Gene associated with autosomal recessive phenotype 30 NCBIGene:8701 biolink:gene_associated_with_condition MONDO:0012748 infores:ubergraph knowledge_assertion manual_agent HGNC:2942 MONDO:0012748 NCBIGene:10752 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10752 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:11253 biolink:gene_associated_with_condition MONDO:0013624 infores:ubergraph knowledge_assertion manual_agent HGNC:6823 MONDO:0013624 NCBIGene:26353 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26353 MONDO:0700096 No evidence available 0 true NCBIGene:54806 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54806 MONDO:0700096 No evidence available 0 true NCBIGene:282809 biolink:gene_associated_with_condition MONDO:0014427 infores:clingen HGNC:30836 MONDO:0014427 Definitive 2025-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29cfdbc1-0fdf-4b2e-971d-a8424c38f975-2025-02-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5081 biolink:gene_associated_with_condition MONDO:0032821 infores:ubergraph knowledge_assertion manual_agent HGNC:8621 MONDO:0032821 NCBIGene:11012 biolink:gene_associated_with_condition MONDO:0957783 infores:ubergraph knowledge_assertion manual_agent HGNC:6359 MONDO:0957783 NCBIGene:151516 biolink:gene_associated_with_condition MONDO:0007812 infores:ubergraph knowledge_assertion manual_agent HGNC:26321 MONDO:0007812 NCBIGene:166379 biolink:gene_associated_with_condition MONDO:1040045 infores:ubergraph knowledge_assertion manual_agent HGNC:26648 MONDO:1040045 NCBIGene:84340 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:29682 MONDO:0009723 Moderate 2019-12-19T18:54:49.252Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0736b760-ca37-4d0a-93a4-c71bbb8cd41a-2019-12-19T185449.252Z AR Autosomal Recessive 0000007 NCBIGene:389856 biolink:gene_associated_with_condition MONDO:0010510 infores:ubergraph knowledge_assertion manual_agent HGNC:13486 MONDO:0010510 NCBIGene:3674 biolink:gene_associated_with_condition MONDO:0031332 infores:ubergraph knowledge_assertion manual_agent HGNC:6138 MONDO:0031332 NCBIGene:3759 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6263 MONDO:0005453 No Known Disease Relationship 2024-10-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c3ccc23-8c84-404a-a36a-b3286f6c70f7-2024-10-15T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:7385 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:12586 MONDO:0044970 Moderate 2022-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82ab14de-02cb-477a-89dd-20210c103ead-2022-01-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6334 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:10596 MONDO:0100038 Definitive 2018-07-18T12:50:00.560Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f52993aa-ddee-483d-b15e-dbf21608d5a9-2018-07-18T125000.560Z AD Autosomal Dominant 0000006 NCBIGene:57038 biolink:gene_associated_with_condition MONDO:0012683 infores:clingen NCBIGene:57038 MONDO:0012683 Gene associated with autosomal recessive phenotype 30 NCBIGene:3758 biolink:gene_associated_with_condition MONDO:0009424 infores:clingen NCBIGene:3758 MONDO:0009424 Definitive 2022-06-16T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4710334-8bbc-45ef-9e56-99e5a3c612ae-2022-06-16T180000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10908 biolink:gene_associated_with_condition MONDO:0008980 infores:ubergraph knowledge_assertion manual_agent HGNC:16268 MONDO:0008980 NCBIGene:5076 biolink:gene_associated_with_condition MONDO:0014451 infores:ubergraph knowledge_assertion manual_agent HGNC:8616 MONDO:0014451 NCBIGene:4638 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4638 MONDO:0700096 No evidence available 0 true NCBIGene:1495 biolink:gene_associated_with_condition MONDO:0012162 infores:ubergraph knowledge_assertion manual_agent HGNC:2509 MONDO:0012162 NCBIGene:375790 biolink:gene_associated_with_condition MONDO:0014052 infores:clingen NCBIGene:375790 MONDO:0014052 Definitive 2025-08-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70c80ce8-1780-4c6e-a8ff-c33b5cbf5d6a-2025-08-25T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9276 biolink:gene_associated_with_condition MONDO:0859253 infores:ubergraph knowledge_assertion manual_agent HGNC:2232 MONDO:0859253 NCBIGene:85378 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:85378 MONDO:0700096 No evidence available 0 true NCBIGene:1154 biolink:gene_associated_with_condition MONDO:0013724 infores:ubergraph knowledge_assertion manual_agent HGNC:1984 MONDO:0013724 NCBIGene:6905 biolink:gene_associated_with_condition MONDO:0014968 infores:ubergraph knowledge_assertion manual_agent HGNC:11582 MONDO:0014968 NCBIGene:7374 biolink:gene_associated_with_condition MONDO:0011971 infores:clingen HGNC:12572 MONDO:0011971 Moderate 2021-08-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_336745e2-39bc-429c-8b0d-fd73216522a5-2021-08-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2065 biolink:gene_associated_with_condition MONDO:0007573 infores:ubergraph knowledge_assertion manual_agent HGNC:3431 MONDO:0007573 NCBIGene:6662 biolink:gene_associated_with_condition MONDO:0007251 infores:ubergraph knowledge_assertion manual_agent HGNC:11204 MONDO:0007251 NCBIGene:23435 biolink:gene_associated_with_condition MONDO:0012790 infores:clingen HGNC:11571 MONDO:0012790 Definitive 2021-07-27T16:06:23.437Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf8bf781-25c9-4f16-b8cc-b0533390e4e2-2021-07-27T160623.437Z AD Autosomal Dominant 0000006 NCBIGene:6336 biolink:gene_associated_with_condition MONDO:0014246 infores:ubergraph knowledge_assertion manual_agent HGNC:10582 MONDO:0014246 NCBIGene:9487 biolink:gene_associated_with_condition MONDO:0010221 infores:ubergraph knowledge_assertion manual_agent HGNC:8966 MONDO:0010221 NCBIGene:57459 biolink:gene_associated_with_condition MONDO:0014034 infores:clingen NCBIGene:57459 MONDO:0014034 Definitive 2022-02-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fb40641-ec79-4fee-9111-d38d2062c15b-2022-02-01T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22907 biolink:gene_associated_with_condition MONDO:0060622 infores:clingen HGNC:16716 MONDO:0060622 Definitive 2024-11-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34f6aaf4-42ed-4871-acc9-efad01ef616e-2024-11-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9325 biolink:gene_associated_with_condition MONDO:0014896 infores:ubergraph knowledge_assertion manual_agent HGNC:12310 MONDO:0014896 NCBIGene:54903 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:7121 MONDO:0005308 Definitive 2024-09-05T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f74f998-7aa7-4a8f-9046-ebb219c95fd7-2024-09-05T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5468 biolink:gene_associated_with_condition MONDO:0011448 infores:ubergraph knowledge_assertion manual_agent HGNC:9236 MONDO:0011448 NCBIGene:10111 biolink:gene_associated_with_condition MONDO:0013118 infores:ubergraph knowledge_assertion manual_agent HGNC:9816 MONDO:0013118 NCBIGene:4942 biolink:gene_associated_with_condition MONDO:0009796 infores:clingen NCBIGene:4942 MONDO:0009796 Definitive 2019-07-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edbab666-9ae6-46db-b818-809a4bf8333e-2019-07-10T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:79803 biolink:gene_associated_with_condition MONDO:0013558 infores:ubergraph knowledge_assertion manual_agent HGNC:18817 MONDO:0013558 NCBIGene:7494 biolink:gene_associated_with_condition MONDO:0012881 infores:ubergraph knowledge_assertion manual_agent HGNC:12801 MONDO:0012881 NCBIGene:374879 biolink:gene_associated_with_condition MONDO:0859181 infores:ubergraph knowledge_assertion manual_agent HGNC:24750 MONDO:0859181 NCBIGene:1743 biolink:gene_associated_with_condition MONDO:0032771 infores:ubergraph knowledge_assertion manual_agent HGNC:2911 MONDO:0032771 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0011003 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0011003 NCBIGene:9080 biolink:gene_associated_with_condition MONDO:0033670 infores:ubergraph knowledge_assertion manual_agent HGNC:2051 MONDO:0033670 NCBIGene:4233 biolink:gene_associated_with_condition MONDO:0014739 infores:ubergraph knowledge_assertion manual_agent HGNC:7029 MONDO:0014739 NCBIGene:116931 biolink:gene_associated_with_condition MONDO:0030030 infores:ubergraph knowledge_assertion manual_agent HGNC:16050 MONDO:0030030 NCBIGene:3508 biolink:gene_associated_with_condition MONDO:0020127 infores:clingen HGNC:5542 MONDO:0020127 Definitive 2023-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2717b35a-87a4-4f24-a762-53388db1bcb5-2023-09-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23534 biolink:gene_associated_with_condition MONDO:0012034 infores:ubergraph knowledge_assertion manual_agent HGNC:17103 MONDO:0012034 NCBIGene:3791 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6307 MONDO:0015924 Definitive 2021-05-12T16:56:01.478Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07a11f06-0904-4a38-9fd3-0aec2bece699-2021-05-12T165601.478Z AD Autosomal Dominant 0000006 NCBIGene:6997 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:11701 MONDO:0005453 Limited 2024-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15231240-2c6d-44c5-9623-05127bb30b6e-2024-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4352 biolink:gene_associated_with_condition MONDO:0011173 infores:ubergraph knowledge_assertion manual_agent HGNC:7217 MONDO:0011173 NCBIGene:5310 biolink:gene_associated_with_condition MONDO:0008263 infores:clingen NCBIGene:5310 MONDO:0008263 Sufficient evidence for dosage pathogenicity 3 NCBIGene:256076 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:256076 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:55904 biolink:gene_associated_with_condition MONDO:0032793 infores:ubergraph knowledge_assertion manual_agent HGNC:18541 MONDO:0032793 NCBIGene:6595 biolink:gene_associated_with_condition MONDO:0011053 infores:ubergraph knowledge_assertion manual_agent HGNC:11098 MONDO:0011053 NCBIGene:5892 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5892 MONDO:0700096 No evidence available 0 true NCBIGene:5965 biolink:gene_associated_with_condition MONDO:0957266 infores:ubergraph knowledge_assertion manual_agent HGNC:9948 MONDO:0957266 NCBIGene:2153 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2153 MONDO:0700096 No evidence available 0 true NCBIGene:3762 biolink:gene_associated_with_condition MONDO:0013359 infores:clingen HGNC:6266 MONDO:0013359 Moderate 2025-09-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36f833b9-f7bc-4cc8-a81b-1299be6966ee-2025-09-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:477 biolink:gene_associated_with_condition MONDO:0859204 infores:ubergraph knowledge_assertion manual_agent HGNC:800 MONDO:0859204 NCBIGene:2516 biolink:gene_associated_with_condition MONDO:0013504 infores:ubergraph knowledge_assertion manual_agent HGNC:7983 MONDO:0013504 NCBIGene:9882 biolink:gene_associated_with_condition MONDO:0014488 infores:ubergraph knowledge_assertion manual_agent HGNC:19165 MONDO:0014488 NCBIGene:64321 biolink:gene_associated_with_condition MONDO:0013356 infores:ubergraph knowledge_assertion manual_agent HGNC:18122 MONDO:0013356 NCBIGene:1187 biolink:gene_associated_with_condition MONDO:0000909 infores:clingen NCBIGene:1187 MONDO:0000909 Gene associated with autosomal recessive phenotype 30 NCBIGene:3717 biolink:gene_associated_with_condition MONDO:0009891 infores:ubergraph knowledge_assertion manual_agent HGNC:6192 MONDO:0009891 NCBIGene:7399 biolink:gene_associated_with_condition MONDO:0013436 infores:ubergraph knowledge_assertion manual_agent HGNC:12601 MONDO:0013436 NCBIGene:6855 biolink:gene_associated_with_condition MONDO:0010429 infores:clingen NCBIGene:6855 MONDO:0010429 true Little evidence for dosage pathogenicity 1 NCBIGene:92749 biolink:gene_associated_with_condition MONDO:0014123 infores:clingen HGNC:24245 MONDO:0014123 Definitive 2025-03-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef37e7a5-e14e-4c71-8231-b01bd636b2b9-2025-03-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6094 biolink:gene_associated_with_condition MONDO:0011974 infores:ubergraph knowledge_assertion manual_agent HGNC:10254 MONDO:0011974 NCBIGene:341640 biolink:gene_associated_with_condition MONDO:0054738 infores:ubergraph knowledge_assertion manual_agent HGNC:25396 MONDO:0054738 NCBIGene:8878 biolink:gene_associated_with_condition MONDO:0800464 infores:ubergraph knowledge_assertion manual_agent HGNC:11280 MONDO:0800464 NCBIGene:7552 biolink:gene_associated_with_condition MONDO:0010430 infores:ubergraph knowledge_assertion manual_agent HGNC:13128 MONDO:0010430 NCBIGene:56172 biolink:gene_associated_with_condition MONDO:0007397 infores:ubergraph knowledge_assertion manual_agent HGNC:15492 MONDO:0007397 NCBIGene:729 biolink:gene_associated_with_condition MONDO:0012908 infores:ubergraph knowledge_assertion manual_agent HGNC:1339 MONDO:0012908 NCBIGene:2892 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:4573 MONDO:0100148 Definitive 2019-11-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25f94660-0a8d-4f3a-8f6c-dde1b38a8ab7-2019-11-06T170000.000Z XL X-linked 0001417 NCBIGene:3815 biolink:gene_associated_with_condition MONDO:0008244 infores:clingen NCBIGene:3815 MONDO:0008244 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23500 biolink:gene_associated_with_condition MONDO:0035459 infores:clingen HGNC:18143 MONDO:0035459 Limited 2024-07-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0190c635-fa58-432c-9342-68805f6cbca2-2024-07-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0011857 infores:ubergraph knowledge_assertion manual_agent HGNC:6294 MONDO:0011857 NCBIGene:7253 biolink:gene_associated_with_condition MONDO:0012203 infores:ubergraph knowledge_assertion manual_agent HGNC:12373 MONDO:0012203 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7137 MONDO:0700096 No evidence available 0 true NCBIGene:54943 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54943 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:10913 biolink:gene_associated_with_condition MONDO:0007509 infores:ubergraph knowledge_assertion manual_agent HGNC:2895 MONDO:0007509 NCBIGene:5257 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5257 MONDO:0700096 No evidence available 0 true NCBIGene:57165 biolink:gene_associated_with_condition MONDO:0012125 infores:ubergraph knowledge_assertion manual_agent HGNC:17494 MONDO:0012125 NCBIGene:122553 biolink:gene_associated_with_condition MONDO:0060640 infores:clingen HGNC:23066 MONDO:0060640 Definitive 2024-11-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98a9fbd-43ee-460c-8e22-0f2d31309b82-2024-11-19T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84188 biolink:gene_associated_with_condition MONDO:0100275 infores:ubergraph knowledge_assertion manual_agent HGNC:26222 MONDO:0100275 NCBIGene:7415 biolink:gene_associated_with_condition MONDO:0000507 infores:clingen HGNC:12666 MONDO:0000507 Definitive 2021-12-23T22:35:10.433Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ea2bc4d-3b58-4b59-a5bc-9d8a96c452cb-2021-12-23T223510.433Z AD Autosomal Dominant 0000006 NCBIGene:55165 biolink:gene_associated_with_condition MONDO:0009359 infores:ubergraph knowledge_assertion manual_agent HGNC:1161 MONDO:0009359 NCBIGene:10742 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:9835 MONDO:0005453 Disputed 2024-04-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2fca4adc-f617-4a9d-8419-957adfcb88e6-2024-04-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:89765 biolink:gene_associated_with_condition MONDO:0014202 infores:clingen NCBIGene:89765 MONDO:0014202 Definitive 2022-06-07T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2bdb2e5-9659-46af-b306-e01207f31174-2022-06-07T110000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:60386 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:14409 MONDO:0009723 Limited 2020-08-27T16:28:50.918Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ae17da7-86b0-4aba-a401-de1ccb6ecb83-2020-08-27T162850.918Z AR Autosomal Recessive 0000007 NCBIGene:1376 biolink:gene_associated_with_condition MONDO:0013633 infores:ubergraph knowledge_assertion manual_agent HGNC:2330 MONDO:0013633 NCBIGene:65125 biolink:gene_associated_with_condition MONDO:0024309 infores:clingen HGNC:14540 MONDO:0024309 Definitive 2023-05-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b83a4d-4a0f-4617-bc11-1effb9efe719-2023-05-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23204 biolink:gene_associated_with_condition MONDO:0019064 infores:clingen HGNC:697 MONDO:0019064 Definitive 2022-10-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58275699-f116-4243-83da-72f751753837-2022-10-17T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:80324 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:15508 MONDO:0044970 Definitive 2022-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_821f6d18-025f-477b-8ba2-b4aad502670c-2022-08-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5352 biolink:gene_associated_with_condition MONDO:0012217 infores:ubergraph knowledge_assertion manual_agent HGNC:9082 MONDO:0012217 HGNC:5541 biolink:gene_associated_with_condition MONDO:0020729 infores:ubergraph knowledge_assertion manual_agent HGNC:5541 MONDO:0020729 NCBIGene:10585 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10585 MONDO:0700096 No evidence available 0 true NCBIGene:1203 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:2076 MONDO:0016295 Definitive 2021-09-08T02:39:30.981Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a522b1d6-5ade-4749-94b8-d5426bbe5961-2021-09-08T023930.981Z AR Autosomal Recessive 0000007 NCBIGene:25913 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25913 MONDO:0700096 No evidence available 0 true NCBIGene:3767 biolink:gene_associated_with_condition MONDO:0011153 infores:ubergraph knowledge_assertion manual_agent HGNC:6257 MONDO:0011153 NCBIGene:55151 biolink:gene_associated_with_condition MONDO:0014029 infores:ubergraph knowledge_assertion manual_agent HGNC:25535 MONDO:0014029 NCBIGene:1621 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1621 MONDO:0700096 No evidence available 0 true NCBIGene:5922 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:9872 MONDO:0018997 Limited 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9635e391-79b6-4054-824e-1c607a02cd07-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3560 biolink:gene_associated_with_condition MONDO:0032782 infores:ubergraph knowledge_assertion manual_agent HGNC:6009 MONDO:0032782 NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010235 infores:ubergraph knowledge_assertion manual_agent HGNC:6990 MONDO:0010235 NCBIGene:4437 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4437 MONDO:0700096 No evidence available 0 true NCBIGene:26275 biolink:gene_associated_with_condition MONDO:0009603 infores:clingen HGNC:4908 MONDO:0009603 Definitive 2019-11-07T22:24:37.403Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26621ace-7c6b-4a1c-8286-02c4cb8a1544-2019-11-07T222437.403Z AR Autosomal Recessive 0000007 NCBIGene:80224 biolink:gene_associated_with_condition MONDO:0032625 infores:ubergraph knowledge_assertion manual_agent HGNC:20278 MONDO:0032625 NCBIGene:7026 biolink:gene_associated_with_condition MONDO:0800458 infores:ubergraph knowledge_assertion manual_agent HGNC:7976 MONDO:0800458 NCBIGene:351 biolink:gene_associated_with_condition MONDO:0011583 infores:ubergraph knowledge_assertion manual_agent HGNC:620 MONDO:0011583 NCBIGene:1287 biolink:gene_associated_with_condition MONDO:0010520 infores:ubergraph knowledge_assertion manual_agent HGNC:2207 MONDO:0010520 NCBIGene:1824 biolink:gene_associated_with_condition MONDO:0016342 infores:clingen NCBIGene:1824 MONDO:0016342 Definitive 2018-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74238dee-a847-4f27-9d30-3050c7bf9bf2-2018-09-14T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010397 infores:ubergraph knowledge_assertion manual_agent HGNC:6990 MONDO:0010397 NCBIGene:91181 biolink:gene_associated_with_condition MONDO:0975958 infores:ubergraph knowledge_assertion manual_agent HGNC:29915 MONDO:0975958 NCBIGene:6915 biolink:gene_associated_with_condition MONDO:0001197 infores:clingen HGNC:11608 MONDO:0001197 Moderate 2025-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab65570e-c07b-402c-99c0-322df4a86ee4-2025-09-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3952 biolink:gene_associated_with_condition MONDO:0013991 infores:ubergraph knowledge_assertion manual_agent HGNC:6553 MONDO:0013991 NCBIGene:23414 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23414 MONDO:0700096 No evidence available 0 true NCBIGene:115948 biolink:gene_associated_with_condition MONDO:0014465 infores:ubergraph knowledge_assertion manual_agent HGNC:28303 MONDO:0014465 NCBIGene:57679 biolink:gene_associated_with_condition MONDO:0100227 infores:ubergraph knowledge_assertion manual_agent HGNC:443 MONDO:0100227 NCBIGene:1789 biolink:gene_associated_with_condition MONDO:0009454 infores:clingen HGNC:2979 MONDO:0009454 Strong 2023-04-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3482d453-c6c8-483d-8333-dbe4d5bd9b66-2023-04-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0012900 infores:ubergraph knowledge_assertion manual_agent HGNC:11949 MONDO:0012900 NCBIGene:4627 biolink:gene_associated_with_condition MONDO:0015912 infores:ubergraph knowledge_assertion manual_agent HGNC:7579 MONDO:0015912 NCBIGene:6608 biolink:gene_associated_with_condition MONDO:0009436 infores:ubergraph knowledge_assertion manual_agent HGNC:11119 MONDO:0009436 NCBIGene:3209 biolink:gene_associated_with_condition MONDO:0007698 infores:ubergraph knowledge_assertion manual_agent HGNC:5102 MONDO:0007698 NCBIGene:2671 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2671 MONDO:0700096 No evidence available 0 true NCBIGene:344167 biolink:gene_associated_with_condition MONDO:0003780 infores:clingen HGNC:35123 MONDO:0003780 Limited 2025-08-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ecab1bd-32d4-49a4-9ed3-92d0d3290fd9-2025-08-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2936 biolink:gene_associated_with_condition MONDO:0019531 infores:ubergraph knowledge_assertion manual_agent HGNC:4623 MONDO:0019531 NCBIGene:11267 biolink:gene_associated_with_condition MONDO:0968947 infores:ubergraph knowledge_assertion manual_agent HGNC:17028 MONDO:0968947 NCBIGene:1757 biolink:gene_associated_with_condition MONDO:0010008 infores:clingen HGNC:10536 MONDO:0010008 Limited 2022-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b994b6f-f296-45af-9d52-c1d0b211ef74-2022-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2542 biolink:gene_associated_with_condition MONDO:0023258 infores:ubergraph knowledge_assertion manual_agent HGNC:4061 MONDO:0023258 NCBIGene:7482 biolink:gene_associated_with_condition MONDO:0032575 infores:ubergraph knowledge_assertion manual_agent HGNC:12781 MONDO:0032575 NCBIGene:7450 biolink:gene_associated_with_condition MONDO:0013304 infores:ubergraph knowledge_assertion manual_agent HGNC:12726 MONDO:0013304 NCBIGene:22934 biolink:gene_associated_with_condition MONDO:0012073 infores:ubergraph knowledge_assertion manual_agent HGNC:10297 MONDO:0012073 NCBIGene:7227 biolink:gene_associated_with_condition MONDO:0008596 infores:ubergraph knowledge_assertion manual_agent HGNC:12340 MONDO:0008596 NCBIGene:2571 biolink:gene_associated_with_condition MONDO:0030856 infores:ubergraph knowledge_assertion manual_agent HGNC:4092 MONDO:0030856 NCBIGene:80144 biolink:gene_associated_with_condition MONDO:0054737 infores:ubergraph knowledge_assertion manual_agent HGNC:19185 MONDO:0054737 NCBIGene:26153 biolink:gene_associated_with_condition MONDO:0859332 infores:ubergraph knowledge_assertion manual_agent HGNC:20226 MONDO:0859332 NCBIGene:4036 biolink:gene_associated_with_condition MONDO:0009104 infores:ubergraph knowledge_assertion manual_agent HGNC:6694 MONDO:0009104 NCBIGene:9409 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen NCBIGene:9409 MONDO:0019234 Definitive 2020-01-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7506d938-efb4-416c-aafd-221251d00e6e-2020-01-13T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:11043 biolink:gene_associated_with_condition MONDO:0010489 infores:ubergraph knowledge_assertion manual_agent HGNC:7096 MONDO:0010489 NCBIGene:710 biolink:gene_associated_with_condition MONDO:0007361 infores:ubergraph knowledge_assertion manual_agent HGNC:1228 MONDO:0007361 NCBIGene:51360 biolink:gene_associated_with_condition MONDO:0100213 infores:clingen HGNC:15455 MONDO:0100213 Definitive 2021-05-17T14:52:33.620Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13a8a124-1071-4150-b6ea-0165cbf41c2d-2021-05-17T145233.620Z XL X-linked 0001417 NCBIGene:64864 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:25777 MONDO:0100038 Definitive 2024-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe25e617-3e55-42cb-be09-d5d3ac49cc76-2024-05-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9255 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9255 MONDO:0700096 No evidence available 0 true NCBIGene:2006 biolink:gene_associated_with_condition MONDO:0007411 infores:ubergraph knowledge_assertion manual_agent HGNC:3327 MONDO:0007411 NCBIGene:11152 biolink:gene_associated_with_condition MONDO:0010476 infores:clingen NCBIGene:11152 MONDO:0010476 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1415 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1415 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2158 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2158 MONDO:0700096 No evidence available 0 true NCBIGene:57038 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21406 MONDO:0044970 Definitive 2022-05-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bdeaf04-f6ce-42f1-9ee0-037f1ead77fb-2022-05-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8892 biolink:gene_associated_with_condition MONDO:0957870 infores:ubergraph knowledge_assertion manual_agent HGNC:3258 MONDO:0957870 NCBIGene:84061 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84061 MONDO:0700096 No evidence available 0 true NCBIGene:1013 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1013 MONDO:0700096 No evidence available 0 true NCBIGene:64788 biolink:gene_associated_with_condition MONDO:0009527 infores:ubergraph knowledge_assertion manual_agent HGNC:14154 MONDO:0009527 NCBIGene:5832 biolink:gene_associated_with_condition MONDO:0100126 infores:ubergraph knowledge_assertion manual_agent HGNC:9722 MONDO:0100126 NCBIGene:2332 biolink:gene_associated_with_condition MONDO:0010382 infores:ubergraph knowledge_assertion manual_agent HGNC:3775 MONDO:0010382 NCBIGene:865 biolink:gene_associated_with_condition MONDO:0859307 infores:ubergraph knowledge_assertion manual_agent HGNC:1539 MONDO:0859307 NCBIGene:6532 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6532 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:171558 biolink:gene_associated_with_condition MONDO:0975761 infores:ubergraph knowledge_assertion manual_agent HGNC:21290 MONDO:0975761 NCBIGene:136647 biolink:gene_associated_with_condition MONDO:0021013 infores:clingen NCBIGene:136647 MONDO:0021013 Gene associated with autosomal recessive phenotype 30 NCBIGene:3423 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3423 MONDO:0700096 No evidence available 0 true NCBIGene:415 biolink:gene_associated_with_condition MONDO:0010555 infores:clingen HGNC:719 MONDO:0010555 Definitive 2023-08-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c48d88b-d100-4203-8abf-03f3199bf3e0-2023-08-29T160000.000Z XL X-linked 0001417 NCBIGene:10743 biolink:gene_associated_with_condition MONDO:0012574 infores:ubergraph knowledge_assertion manual_agent HGNC:9834 MONDO:0012574 NCBIGene:201595 biolink:gene_associated_with_condition MONDO:0014271 infores:ubergraph knowledge_assertion manual_agent HGNC:30611 MONDO:0014271 NCBIGene:10021 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:16882 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10150 AD Autosomal Dominant 0000006 NCBIGene:26137 biolink:gene_associated_with_condition MONDO:0009798 infores:clingen HGNC:13503 MONDO:0009798 Definitive 2023-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84d8ead9-b817-4ee8-a28b-5948efef65ca-2023-04-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5892 biolink:gene_associated_with_condition MONDO:0700274 infores:clingen HGNC:9823 MONDO:0700274 Definitive 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d2e5a83-03cb-4483-915d-6ac32a84dc0a-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:407975 biolink:gene_associated_with_condition MONDO:0013691 infores:ubergraph knowledge_assertion manual_agent HGNC:23564 MONDO:0013691 NCBIGene:1476 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:2482 MONDO:0100062 Moderate 2020-12-01T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_accafcd4-ba3c-4049-9285-1de877d256ec-2020-12-01T060000.000Z AR Autosomal Recessive 0000007 NCBIGene:81620 biolink:gene_associated_with_condition MONDO:0013431 infores:clingen NCBIGene:81620 MONDO:0013431 Definitive 2023-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dfc9602f-fb88-419a-8955-6d7c00a52158-2023-03-03T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23431 biolink:gene_associated_with_condition MONDO:0008483 infores:ubergraph knowledge_assertion manual_agent HGNC:573 MONDO:0008483 NCBIGene:79583 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:37234 MONDO:0005308 Definitive 2022-01-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52100cfc-22b6-47c5-9b9c-512a1a4f1cfc-2022-01-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0009708 infores:ubergraph knowledge_assertion manual_agent HGNC:7577 MONDO:0009708 NCBIGene:2018 biolink:gene_associated_with_condition MONDO:0010011 infores:clingen NCBIGene:2018 MONDO:0010011 Limited 2024-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ab9956b-42de-4772-a3bb-8508ea6d1349-2024-09-03T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:3918 biolink:gene_associated_with_condition MONDO:0030749 infores:ubergraph knowledge_assertion manual_agent HGNC:6493 MONDO:0030749 NCBIGene:81603 biolink:gene_associated_with_condition MONDO:0100111 infores:clingen HGNC:15579 MONDO:0100111 Definitive 2021-10-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457fd90a-dad8-4711-97d0-59eb240a299e-2021-10-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51473 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:18141 MONDO:0019497 Limited 2020-08-31T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86802e37-e2a5-43b9-8538-e104859b4c55-2020-08-31T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:54463 biolink:gene_associated_with_condition MONDO:0015364 infores:clingen HGNC:25964 MONDO:0015364 Definitive 2024-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0b9041f-06f2-47c8-b070-5d4cfaaeb2db-2024-07-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5873 biolink:gene_associated_with_condition MONDO:0011872 infores:ubergraph knowledge_assertion manual_agent HGNC:9766 MONDO:0011872 NCBIGene:23175 biolink:gene_associated_with_condition MONDO:0009992 infores:ubergraph knowledge_assertion manual_agent HGNC:13345 MONDO:0009992 NCBIGene:113612 biolink:gene_associated_with_condition MONDO:0014015 infores:ubergraph knowledge_assertion manual_agent HGNC:20582 MONDO:0014015 NCBIGene:539 biolink:gene_associated_with_condition MONDO:0957255 infores:ubergraph knowledge_assertion manual_agent HGNC:850 MONDO:0957255 NCBIGene:153562 biolink:gene_associated_with_condition MONDO:0012420 infores:clingen NCBIGene:153562 MONDO:0012420 Gene associated with autosomal recessive phenotype 30 NCBIGene:2131 biolink:gene_associated_with_condition MONDO:0007585 infores:clingen NCBIGene:2131 MONDO:0007585 Definitive 2018-06-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ced1387-c0a8-4f03-bd70-1595cb7683fd-2018-06-04T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2262 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2262 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1585 biolink:gene_associated_with_condition MONDO:0012524 infores:ubergraph knowledge_assertion manual_agent HGNC:2592 MONDO:0012524 NCBIGene:6101 biolink:gene_associated_with_condition MONDO:0800400 infores:clingen HGNC:10263 MONDO:0800400 Definitive 2022-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12feacf6-5c08-4cf7-9879-0ed6c134bf81-2022-09-01T160000.000Z SD Semidominant 0032113 NCBIGene:9742 biolink:gene_associated_with_condition MONDO:0009964 infores:clingen NCBIGene:9742 MONDO:0009964 Gene associated with autosomal recessive phenotype 30 NCBIGene:7026 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7026 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9325 biolink:gene_associated_with_condition MONDO:0014806 infores:ubergraph knowledge_assertion manual_agent HGNC:12310 MONDO:0014806 NCBIGene:125336 biolink:gene_associated_with_condition MONDO:0013119 infores:clingen NCBIGene:125336 MONDO:0013119 Gene associated with autosomal recessive phenotype 30 NCBIGene:80816 biolink:gene_associated_with_condition MONDO:0014205 infores:clingen NCBIGene:80816 MONDO:0014205 Sufficient evidence for dosage pathogenicity 3 NCBIGene:253738 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:253738 MONDO:0700096 No evidence available 0 true NCBIGene:2720 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2720 MONDO:0700096 No evidence available 0 true NCBIGene:2811 biolink:gene_associated_with_condition MONDO:0009789 infores:ubergraph knowledge_assertion manual_agent HGNC:4439 MONDO:0009789 NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0035706 infores:clingen HGNC:18420 MONDO:0035706 Strong 2023-10-03T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12443e12-a359-40fb-afbf-b334e9b87b1d-2023-10-03T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:2776 biolink:gene_associated_with_condition MONDO:0008094 infores:ubergraph knowledge_assertion manual_agent HGNC:4390 MONDO:0008094 NCBIGene:5077 biolink:gene_associated_with_condition MONDO:0007395 infores:ubergraph knowledge_assertion manual_agent HGNC:8617 MONDO:0007395 NCBIGene:5621 biolink:gene_associated_with_condition MONDO:0007656 infores:ubergraph knowledge_assertion manual_agent HGNC:9449 MONDO:0007656 NCBIGene:51314 biolink:gene_associated_with_condition MONDO:0012571 infores:ubergraph knowledge_assertion manual_agent HGNC:16473 MONDO:0012571 NCBIGene:2588 biolink:gene_associated_with_condition MONDO:0009659 infores:clingen NCBIGene:2588 MONDO:0009659 Definitive 2022-06-16T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c58d08e9-dc6d-45fc-a21a-54be3bc438d9-2022-06-16T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:63976 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:14000 MONDO:0005021 Strong 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a3445a-5bb0-4d77-a4f0-5b7cfceb837f-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84343 biolink:gene_associated_with_condition MONDO:0013555 infores:ubergraph knowledge_assertion manual_agent HGNC:15597 MONDO:0013555 NCBIGene:537 biolink:gene_associated_with_condition MONDO:0005501 infores:clingen HGNC:868 MONDO:0005501 Definitive 2024-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bfce2b-c20c-40f9-b2f5-d81f76a328f7-2024-05-15T160000.000Z XL X-linked 0001417 NCBIGene:1027 biolink:gene_associated_with_condition MONDO:0012552 infores:clingen NCBIGene:1027 MONDO:0012552 Definitive 2018-12-21T15:48:54.477Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b07f8882-dd5e-4831-9926-f8b4c2a8c265-2018-12-21T154854.477Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:1097 MONDO:0015280 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a53e5a92-126f-4b00-a89b-af55d4f342ca-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26224 biolink:gene_associated_with_condition MONDO:0011651 infores:ubergraph knowledge_assertion manual_agent HGNC:13599 MONDO:0011651 NCBIGene:8936 biolink:gene_associated_with_condition MONDO:0032876 infores:ubergraph knowledge_assertion manual_agent HGNC:12732 MONDO:0032876 NCBIGene:8289 biolink:gene_associated_with_condition MONDO:0013819 infores:ubergraph knowledge_assertion manual_agent HGNC:11110 MONDO:0013819 NCBIGene:55906 biolink:gene_associated_with_condition MONDO:0010758 infores:ubergraph knowledge_assertion manual_agent HGNC:24931 MONDO:0010758 NCBIGene:157680 biolink:gene_associated_with_condition MONDO:0008999 infores:ubergraph knowledge_assertion manual_agent HGNC:2183 MONDO:0008999 NCBIGene:29954 biolink:gene_associated_with_condition MONDO:0700071 infores:ubergraph knowledge_assertion manual_agent HGNC:19743 MONDO:0700071 NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:28396 MONDO:0005308 Definitive 2021-07-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f380d4b-6d0b-4c09-a3ae-ec34bc8ecb8d-2021-07-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:359 biolink:gene_associated_with_condition MONDO:0007451 infores:ubergraph knowledge_assertion manual_agent HGNC:634 MONDO:0007451 NCBIGene:352909 biolink:gene_associated_with_condition MONDO:0011718 infores:clingen HGNC:30492 MONDO:0011718 Definitive 2022-05-09T15:56:00.823Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40329b6f-2d65-49dd-863b-f79dcd1b5a23-2022-05-09T155600.823Z AR Autosomal Recessive 0000007 NCBIGene:79848 biolink:gene_associated_with_condition MONDO:0014288 infores:clingen NCBIGene:79848 MONDO:0014288 Definitive 2021-06-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e24d1591-91b7-4c2f-bd79-d4dc8be0974d-2021-06-23T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:53630 biolink:gene_associated_with_condition MONDO:0007272 infores:ubergraph knowledge_assertion manual_agent HGNC:13815 MONDO:0007272 NCBIGene:7026 biolink:gene_associated_with_condition MONDO:0030049 infores:ubergraph knowledge_assertion manual_agent HGNC:7976 MONDO:0030049 NCBIGene:11160 biolink:gene_associated_with_condition MONDO:0957788 infores:ubergraph knowledge_assertion manual_agent HGNC:1356 MONDO:0957788 NCBIGene:83479 biolink:gene_associated_with_condition MONDO:0008267 infores:ubergraph knowledge_assertion manual_agent HGNC:25360 MONDO:0008267 NCBIGene:5176 biolink:gene_associated_with_condition MONDO:0013515 infores:ubergraph knowledge_assertion manual_agent HGNC:8824 MONDO:0013515 NCBIGene:29760 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29760 MONDO:0700096 No evidence available 0 true NCBIGene:3651 biolink:gene_associated_with_condition MONDO:0011667 infores:ubergraph knowledge_assertion manual_agent HGNC:6107 MONDO:0011667 NCBIGene:3757 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen NCBIGene:3757 MONDO:0002442 Definitive 2018-09-25T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_462eeb4e-357d-4c3d-89f0-e386ac0d011b-2018-09-25T040000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5158 biolink:gene_associated_with_condition MONDO:0008099 infores:ubergraph knowledge_assertion manual_agent HGNC:8786 MONDO:0008099 NCBIGene:4173 biolink:gene_associated_with_condition MONDO:0012383 infores:ubergraph knowledge_assertion manual_agent HGNC:6947 MONDO:0012383 NCBIGene:401474 biolink:gene_associated_with_condition MONDO:0010985 infores:ubergraph knowledge_assertion manual_agent HGNC:31750 MONDO:0010985 NCBIGene:8942 biolink:gene_associated_with_condition MONDO:0060555 infores:ubergraph knowledge_assertion manual_agent HGNC:6469 MONDO:0060555 NCBIGene:1299 biolink:gene_associated_with_condition MONDO:0031047 infores:ubergraph knowledge_assertion manual_agent HGNC:2219 MONDO:0031047 NCBIGene:7204 biolink:gene_associated_with_condition MONDO:0032939 infores:ubergraph knowledge_assertion manual_agent HGNC:12303 MONDO:0032939 NCBIGene:6134 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6134 MONDO:0100038 true No evidence available 0 NCBIGene:4967 biolink:gene_associated_with_condition MONDO:0008759 infores:ubergraph knowledge_assertion manual_agent HGNC:8124 MONDO:0008759 NCBIGene:123688 biolink:gene_associated_with_condition MONDO:0017351 infores:clingen HGNC:34403 MONDO:0017351 No Known Disease Relationship 2023-07-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60c28393-bd46-4da4-9700-ce2fb005377b-2023-07-14T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:1741 biolink:gene_associated_with_condition MONDO:0010452 infores:ubergraph knowledge_assertion manual_agent HGNC:2902 MONDO:0010452 NCBIGene:84277 biolink:gene_associated_with_condition MONDO:0958183 infores:ubergraph knowledge_assertion manual_agent HGNC:16410 MONDO:0958183 NCBIGene:128954 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:128954 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:53405 biolink:gene_associated_with_condition MONDO:0014469 infores:ubergraph knowledge_assertion manual_agent HGNC:13517 MONDO:0014469 NCBIGene:3560 biolink:gene_associated_with_condition MONDO:0032782 infores:clingen HGNC:6009 MONDO:0032782 Moderate 2023-12-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b6a2d8f-4ca0-42bb-9c1c-fbe59aac7b1f-2023-12-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:127602 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:2945 MONDO:0016575 Disputed 2025-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f97c277b-f717-4bcb-a678-eb1ffb37be29-2025-05-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:374462 biolink:gene_associated_with_condition MONDO:0013249 infores:ubergraph knowledge_assertion manual_agent HGNC:9679 MONDO:0013249 NCBIGene:3257 biolink:gene_associated_with_condition MONDO:0008748 infores:clingen NCBIGene:3257 MONDO:0008748 Definitive 2019-07-22T14:28:42.174Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6d44a89-527f-4864-a1e1-dcd0a17000ca-2019-07-22T142842.174Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4702 biolink:gene_associated_with_condition MONDO:0030997 infores:ubergraph knowledge_assertion manual_agent HGNC:7692 MONDO:0030997 NCBIGene:4849 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4849 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2581 biolink:gene_associated_with_condition MONDO:0009499 infores:clingen NCBIGene:2581 MONDO:0009499 Definitive 2022-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d17202fb-89c4-4bf6-ad57-4b8c541dc808-2022-06-15T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1892 biolink:gene_associated_with_condition MONDO:0014563 infores:clingen HGNC:3151 MONDO:0014563 Definitive 2018-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dad38816-be17-4d59-bbfd-3e79221911a4-2018-10-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5788 biolink:gene_associated_with_condition MONDO:0012163 infores:clingen HGNC:9666 MONDO:0012163 Definitive 2021-12-22T20:55:04.201Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4b09bbc-c749-45be-9f2a-1a54813b2906-2021-12-22T205504.201Z AR Autosomal Recessive 0000007 NCBIGene:1009 biolink:gene_associated_with_condition MONDO:0030674 infores:clingen HGNC:1750 MONDO:0030674 Moderate 2024-05-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d159047f-2ee5-4406-8def-c5fe63b7ffe8-2024-05-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:132884 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:132884 MONDO:0700096 No evidence available 0 true NCBIGene:1493 biolink:gene_associated_with_condition MONDO:0014493 infores:ubergraph knowledge_assertion manual_agent HGNC:2505 MONDO:0014493 NCBIGene:81790 biolink:gene_associated_with_condition MONDO:0012166 infores:ubergraph knowledge_assertion manual_agent HGNC:25358 MONDO:0012166 NCBIGene:115948 biolink:gene_associated_with_condition MONDO:0014465 infores:clingen HGNC:28303 MONDO:0014465 Definitive 2023-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3238f748-9461-4704-ae35-02115485fab6-2023-03-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2299 biolink:gene_associated_with_condition MONDO:0005365 infores:clingen HGNC:3815 MONDO:0005365 Limited 2022-03-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bb41557-8ccc-4084-b4b0-d4ede42d8f36-2022-03-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1183 biolink:gene_associated_with_condition MONDO:0010250 infores:ubergraph knowledge_assertion manual_agent HGNC:2022 MONDO:0010250 NCBIGene:1716 biolink:gene_associated_with_condition MONDO:0014899 infores:ubergraph knowledge_assertion manual_agent HGNC:2858 MONDO:0014899 NCBIGene:203859 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:27337 MONDO:0015152 Definitive 2024-11-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cecfa828-c192-44ae-9f3f-9dd5a99a5e5a-2024-11-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4595 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4595 MONDO:0700096 No evidence available 0 true NCBIGene:5610 biolink:gene_associated_with_condition MONDO:0030035 infores:ubergraph knowledge_assertion manual_agent HGNC:9437 MONDO:0030035 NCBIGene:26092 biolink:gene_associated_with_condition MONDO:0100582 infores:clingen HGNC:29456 MONDO:0100582 Definitive 2024-11-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d671760-7ca7-4319-846b-a953ddcea700-2024-11-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3800 biolink:gene_associated_with_condition MONDO:0014116 infores:clingen HGNC:6325 MONDO:0014116 Moderate 2022-01-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c22eb3e1-4a72-480f-a360-20788fe1d9cd-2022-01-25T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4143 biolink:gene_associated_with_condition MONDO:0009607 infores:clingen HGNC:6903 MONDO:0009607 Definitive 2019-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35cff382-98fe-4103-8edc-101f0c565a9e-2019-09-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7783 biolink:gene_associated_with_condition MONDO:0032696 infores:ubergraph knowledge_assertion manual_agent HGNC:13188 MONDO:0032696 NCBIGene:138050 biolink:gene_associated_with_condition MONDO:0009657 infores:ubergraph knowledge_assertion manual_agent HGNC:26527 MONDO:0009657 NCBIGene:55790 biolink:gene_associated_with_condition MONDO:0030029 infores:clingen HGNC:24290 MONDO:0030029 Moderate 2025-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ba7e544-2e7d-4314-b011-74210faae113-2025-06-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10659 biolink:gene_associated_with_condition MONDO:0030453 infores:ubergraph knowledge_assertion manual_agent HGNC:2550 MONDO:0030453 NCBIGene:22880 biolink:gene_associated_with_condition MONDO:0014736 infores:ubergraph knowledge_assertion manual_agent HGNC:23573 MONDO:0014736 NCBIGene:6102 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6102 MONDO:0700096 No evidence available 0 true NCBIGene:10406 biolink:gene_associated_with_condition MONDO:0975835 infores:ubergraph knowledge_assertion manual_agent HGNC:15939 MONDO:0975835 NCBIGene:6809 biolink:gene_associated_with_condition MONDO:0030335 infores:ubergraph knowledge_assertion manual_agent HGNC:11438 MONDO:0030335 NCBIGene:57468 biolink:gene_associated_with_condition MONDO:0014718 infores:ubergraph knowledge_assertion manual_agent HGNC:13818 MONDO:0014718 NCBIGene:81704 biolink:gene_associated_with_condition MONDO:0009478 infores:ubergraph knowledge_assertion manual_agent HGNC:19191 MONDO:0009478 NCBIGene:55904 biolink:gene_associated_with_condition MONDO:0032793 infores:clingen NCBIGene:55904 MONDO:0032793 Sufficient evidence for dosage pathogenicity 3 NCBIGene:84665 biolink:gene_associated_with_condition MONDO:0015023 infores:clingen HGNC:23246 MONDO:0015023 Definitive 2020-06-17T19:46:36.472Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6aeb67cc-c960-4511-a708-b0acadb34588-2020-06-17T194636.472Z AR Autosomal Recessive 0000007 NCBIGene:7171 biolink:gene_associated_with_condition MONDO:0100487 infores:ubergraph knowledge_assertion manual_agent HGNC:12013 MONDO:0100487 NCBIGene:4563 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7486 MONDO:0044970 Moderate 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e01ede3c-456b-432b-b1e0-27809dd1e976-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:4284 MONDO:0019497 Definitive 2024-09-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9af2d792-a1fc-4b96-ae23-ee7a31dd2f99-2024-09-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23746 biolink:gene_associated_with_condition MONDO:0100438 infores:clingen HGNC:359 MONDO:0100438 Definitive 2023-02-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_594ca712-dbb5-408b-8aba-68dbfaf7f778-2023-02-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3832 biolink:gene_associated_with_condition MONDO:0007918 infores:clingen NCBIGene:3832 MONDO:0007918 Definitive 2021-07-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aabff7c5-06ad-4602-a6f7-fef1bca0d1df-2021-07-01T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:284439 biolink:gene_associated_with_condition MONDO:0032736 infores:ubergraph knowledge_assertion manual_agent HGNC:28380 MONDO:0032736 NCBIGene:1108 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1108 MONDO:0700096 No evidence available 0 true NCBIGene:7486 biolink:gene_associated_with_condition MONDO:0010196 infores:clingen NCBIGene:7486 MONDO:0010196 Definitive 2018-10-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9c04f29-bc94-40c5-95d7-d25d21cd387f-2018-10-09T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:91851 biolink:gene_associated_with_condition MONDO:0010649 infores:ubergraph knowledge_assertion manual_agent HGNC:29861 MONDO:0010649 NCBIGene:9333 biolink:gene_associated_with_condition MONDO:0012345 infores:clingen NCBIGene:9333 MONDO:0012345 Gene associated with autosomal recessive phenotype 30 NCBIGene:1373 biolink:gene_associated_with_condition MONDO:0014151 infores:ubergraph knowledge_assertion manual_agent HGNC:2323 MONDO:0014151 NCBIGene:1656 biolink:gene_associated_with_condition MONDO:0032851 infores:ubergraph knowledge_assertion manual_agent HGNC:2747 MONDO:0032851 NCBIGene:51422 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51422 MONDO:0700096 No evidence available 0 true NCBIGene:10734 biolink:gene_associated_with_condition MONDO:0030507 infores:ubergraph knowledge_assertion manual_agent HGNC:11356 MONDO:0030507 NCBIGene:9255 biolink:gene_associated_with_condition MONDO:0009843 infores:ubergraph knowledge_assertion manual_agent HGNC:10648 MONDO:0009843 NCBIGene:123606 biolink:gene_associated_with_condition MONDO:0010878 infores:ubergraph knowledge_assertion manual_agent HGNC:17043 MONDO:0010878 NCBIGene:10908 biolink:gene_associated_with_condition MONDO:0010152 infores:ubergraph knowledge_assertion manual_agent HGNC:16268 MONDO:0010152 NCBIGene:23229 biolink:gene_associated_with_condition MONDO:0010375 infores:ubergraph knowledge_assertion manual_agent HGNC:14561 MONDO:0010375 NCBIGene:2626 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2626 MONDO:0700096 No evidence available 0 true NCBIGene:6304 biolink:gene_associated_with_condition MONDO:0030988 infores:ubergraph knowledge_assertion manual_agent HGNC:10541 MONDO:0030988 NCBIGene:4784 biolink:gene_associated_with_condition MONDO:0013885 infores:clingen NCBIGene:4784 MONDO:0013885 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9313537f-649e-44b9-9a53-b77a9d7e070c-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:488 biolink:gene_associated_with_condition MONDO:0007417 infores:ubergraph knowledge_assertion manual_agent HGNC:812 MONDO:0007417 NCBIGene:213 biolink:gene_associated_with_condition MONDO:0014449 infores:clingen HGNC:399 MONDO:0014449 Definitive 2025-05-09T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5c453ff-8474-463a-916e-45ccb14e2b39-2025-05-09T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:146183 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:146183 MONDO:0700096 No evidence available 0 true NCBIGene:26058 biolink:gene_associated_with_condition MONDO:0011896 infores:ubergraph knowledge_assertion manual_agent HGNC:11960 MONDO:0011896 NCBIGene:4208 biolink:gene_associated_with_condition MONDO:0013266 infores:clingen NCBIGene:4208 MONDO:0013266 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29957 biolink:gene_associated_with_condition MONDO:0012853 infores:ubergraph knowledge_assertion manual_agent HGNC:20662 MONDO:0012853 NCBIGene:1495 biolink:gene_associated_with_condition MONDO:0100256 infores:ubergraph knowledge_assertion manual_agent HGNC:2509 MONDO:0100256 NCBIGene:4047 biolink:gene_associated_with_condition MONDO:0032649 infores:ubergraph knowledge_assertion manual_agent HGNC:6708 MONDO:0032649 NCBIGene:54 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54 MONDO:0700096 No evidence available 0 true NCBIGene:158326 biolink:gene_associated_with_condition MONDO:0012165 infores:ubergraph knowledge_assertion manual_agent HGNC:23399 MONDO:0012165 NCBIGene:1062 biolink:gene_associated_with_condition MONDO:0016660 infores:clingen HGNC:1856 MONDO:0016660 Limited 2023-12-19T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_830f266d-32bd-4d1f-9867-e97ffe6f2eae-2023-12-19T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:3798 biolink:gene_associated_with_condition MONDO:0060670 infores:clingen HGNC:6323 MONDO:0060670 Definitive 2022-05-26T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e7d2674-bce3-469c-b1e4-5cf57f5780a8-2022-05-26T110000.000Z AD Autosomal Dominant 0000006 NCBIGene:2583 biolink:gene_associated_with_condition MONDO:0012213 infores:ubergraph knowledge_assertion manual_agent HGNC:4117 MONDO:0012213 NCBIGene:64789 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64789 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:26999 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:13760 MONDO:0100038 Definitive 2025-05-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af61bf34-00d4-4867-9a0b-415e4f6bcfa8-2025-05-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9423 biolink:gene_associated_with_condition MONDO:0032641 infores:ubergraph knowledge_assertion manual_agent HGNC:8029 MONDO:0032641 NCBIGene:5589 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5589 MONDO:0700096 No evidence available 0 true NCBIGene:7168 biolink:gene_associated_with_condition MONDO:0007267 infores:ubergraph knowledge_assertion manual_agent HGNC:12010 MONDO:0007267 NCBIGene:3783 biolink:gene_associated_with_condition MONDO:0014737 infores:ubergraph knowledge_assertion manual_agent HGNC:6293 MONDO:0014737 NCBIGene:4137 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4137 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5015 biolink:gene_associated_with_condition MONDO:0012413 infores:ubergraph knowledge_assertion manual_agent HGNC:8522 MONDO:0012413 NCBIGene:5459 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:9220 MONDO:0019497 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1476f1d9-7538-40bd-b602-b76781630cee-2017-11-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10149 biolink:gene_associated_with_condition MONDO:0010511 infores:ubergraph knowledge_assertion manual_agent HGNC:4516 MONDO:0010511 NCBIGene:84833 biolink:gene_associated_with_condition MONDO:0032869 infores:ubergraph knowledge_assertion manual_agent HGNC:30889 MONDO:0032869 NCBIGene:3547 biolink:gene_associated_with_condition MONDO:0010475 infores:ubergraph knowledge_assertion manual_agent HGNC:5948 MONDO:0010475 NCBIGene:9294 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:3169 MONDO:0019497 Strong 2017-03-02T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8405 AR Autosomal Recessive 0000007 NCBIGene:10347 biolink:gene_associated_with_condition MONDO:0012153 infores:ubergraph knowledge_assertion manual_agent HGNC:37 MONDO:0012153 NCBIGene:29123 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29123 MONDO:0700096 No evidence available 0 true NCBIGene:9907 biolink:gene_associated_with_condition MONDO:0013342 infores:ubergraph knowledge_assertion manual_agent HGNC:22197 MONDO:0013342 NCBIGene:221927 biolink:gene_associated_with_condition MONDO:0020841 infores:ubergraph knowledge_assertion manual_agent HGNC:21701 MONDO:0020841 NCBIGene:51422 biolink:gene_associated_with_condition MONDO:0800484 infores:clingen NCBIGene:51422 MONDO:0800484 Definitive 2022-06-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27297fe8-ceca-432f-bd0b-ffadf65c4c41-2022-06-14T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:57704 biolink:gene_associated_with_condition MONDO:0013737 infores:ubergraph knowledge_assertion manual_agent HGNC:18986 MONDO:0013737 NCBIGene:1959 biolink:gene_associated_with_condition MONDO:0011527 infores:ubergraph knowledge_assertion manual_agent HGNC:3239 MONDO:0011527 NCBIGene:1119 biolink:gene_associated_with_condition MONDO:0859282 infores:ubergraph knowledge_assertion manual_agent HGNC:1937 MONDO:0859282 NCBIGene:727857 biolink:gene_associated_with_condition MONDO:0011853 infores:ubergraph knowledge_assertion manual_agent HGNC:35126 MONDO:0011853 NCBIGene:2592 biolink:gene_associated_with_condition MONDO:0009258 infores:ubergraph knowledge_assertion manual_agent HGNC:4135 MONDO:0009258 NCBIGene:7809 biolink:gene_associated_with_condition MONDO:0011242 infores:clingen NCBIGene:7809 MONDO:0011242 Definitive 2018-07-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b69acb1-93bc-4bc0-8a33-77bf64179c32-2018-07-10T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:157378 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25203 MONDO:0044970 Limited 2024-07-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5baa00c9-4701-487f-8855-392e48d3de9c-2024-07-15T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:8884 biolink:gene_associated_with_condition MONDO:0859255 infores:ubergraph knowledge_assertion manual_agent HGNC:11041 MONDO:0859255 NCBIGene:11253 biolink:gene_associated_with_condition MONDO:0018349 infores:ubergraph knowledge_assertion manual_agent HGNC:6823 MONDO:0018349 NCBIGene:2255 biolink:gene_associated_with_condition MONDO:0859578 infores:ubergraph knowledge_assertion manual_agent HGNC:3666 MONDO:0859578 NCBIGene:117531 biolink:gene_associated_with_condition MONDO:0010967 infores:clingen HGNC:16513 MONDO:0010967 Definitive 2017-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5658 AR Autosomal Recessive 0000007 NCBIGene:23324 biolink:gene_associated_with_condition MONDO:0800141 infores:clingen HGNC:29623 MONDO:0800141 Limited 2024-01-18T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfe9ebc-087e-4cdd-bb49-9cdc1f12e3ef-2024-01-18T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:10436 biolink:gene_associated_with_condition MONDO:0008879 infores:clingen HGNC:16912 MONDO:0008879 Strong 2025-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c60e824f-3e52-4e94-9181-d9f7290f6023-2025-05-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:91949 biolink:gene_associated_with_condition MONDO:0012118 infores:clingen NCBIGene:91949 MONDO:0012118 Definitive 2024-10-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_398c1212-8417-499e-8427-79a752745aec-2024-10-19T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:58 biolink:gene_associated_with_condition MONDO:0859523 infores:ubergraph knowledge_assertion manual_agent HGNC:129 MONDO:0859523 NCBIGene:412 biolink:gene_associated_with_condition MONDO:0010622 infores:clingen NCBIGene:412 MONDO:0010622 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6558 biolink:gene_associated_with_condition MONDO:0033667 infores:ubergraph knowledge_assertion manual_agent HGNC:10911 MONDO:0033667 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0009101 infores:ubergraph knowledge_assertion manual_agent HGNC:12762 MONDO:0009101 NCBIGene:1281 biolink:gene_associated_with_condition MONDO:0007524 infores:ubergraph knowledge_assertion manual_agent HGNC:2201 MONDO:0007524 NCBIGene:92211 biolink:gene_associated_with_condition MONDO:0800352 infores:clingen HGNC:14550 MONDO:0800352 Definitive 2025-06-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2774d220-f9c0-419c-b9d2-eb7a1dc8f4f1-2025-06-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:80224 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20278 MONDO:0044970 Definitive 2024-09-19T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940d64cb-da20-4608-961d-345d6c8b437c-2024-09-19T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:374354 biolink:gene_associated_with_condition MONDO:0032651 infores:ubergraph knowledge_assertion manual_agent HGNC:24731 MONDO:0032651 NCBIGene:2744 biolink:gene_associated_with_condition MONDO:0032733 infores:ubergraph knowledge_assertion manual_agent HGNC:4331 MONDO:0032733 NCBIGene:10082 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10082 MONDO:0700096 No evidence available 0 true NCBIGene:9464 biolink:gene_associated_with_condition MONDO:0800476 infores:ubergraph knowledge_assertion manual_agent HGNC:4808 MONDO:0800476 NCBIGene:7056 biolink:gene_associated_with_condition MONDO:0013775 infores:ubergraph knowledge_assertion manual_agent HGNC:11784 MONDO:0013775 NCBIGene:2071 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2071 MONDO:0700096 No evidence available 0 true NCBIGene:4054 biolink:gene_associated_with_condition MONDO:0054722 infores:ubergraph knowledge_assertion manual_agent HGNC:6716 MONDO:0054722 NCBIGene:65018 biolink:gene_associated_with_condition MONDO:0011613 infores:clingen NCBIGene:65018 MONDO:0011613 Gene associated with autosomal recessive phenotype 30 NCBIGene:7048 biolink:gene_associated_with_condition MONDO:0012427 infores:clingen NCBIGene:7048 MONDO:0012427 Definitive 2020-11-25T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73be8b4f-d823-44e5-ab76-faa3bc8eca84-2020-11-25T180000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:9439 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:2372 MONDO:0000508 Moderate 2020-04-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e8c75f0-39ae-4967-b95d-a92c55739876-2020-04-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:487 biolink:gene_associated_with_condition MONDO:0010977 infores:ubergraph knowledge_assertion manual_agent HGNC:811 MONDO:0010977 NCBIGene:9150 biolink:gene_associated_with_condition MONDO:0011402 infores:clingen NCBIGene:9150 MONDO:0011402 Gene associated with autosomal recessive phenotype 30 NCBIGene:2898 biolink:gene_associated_with_condition MONDO:0012614 infores:clingen NCBIGene:2898 MONDO:0012614 Gene associated with autosomal recessive phenotype 30 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0100456 infores:clingen HGNC:6296 MONDO:0100456 Definitive 2022-02-15T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a790a385-d2bb-49dd-9566-d5ff258ee5d8-2022-02-15T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:2702 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2702 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:145226 biolink:gene_associated_with_condition MONDO:0800099 infores:clingen HGNC:19977 MONDO:0800099 Definitive 2022-03-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd51db77-53c3-4f89-9a4c-c92bbe182d7e-2022-03-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:60528 biolink:gene_associated_with_condition MONDO:0013872 infores:ubergraph knowledge_assertion manual_agent HGNC:14198 MONDO:0013872 NCBIGene:128674 biolink:gene_associated_with_condition MONDO:0009482 infores:ubergraph knowledge_assertion manual_agent HGNC:15836 MONDO:0009482 NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0013489 infores:clingen NCBIGene:3735 MONDO:0013489 Gene associated with autosomal recessive phenotype 30 NCBIGene:710 biolink:gene_associated_with_condition MONDO:0033946 infores:ubergraph knowledge_assertion manual_agent HGNC:1228 MONDO:0033946 NCBIGene:375307 biolink:gene_associated_with_condition MONDO:0023664 infores:ubergraph knowledge_assertion manual_agent HGNC:25062 MONDO:0023664 NCBIGene:51114 biolink:gene_associated_with_condition MONDO:0010427 infores:clingen NCBIGene:51114 MONDO:0010427 Definitive 2020-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2156b925-1ee6-4edb-a514-3650aa5b780e-2020-05-19T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57492 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:18040 MONDO:0015452 Definitive 2019-12-04T20:07:34.569Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d487e6c4-9727-4315-90a2-11338128a8e5-2019-12-04T200734.569Z AD Autosomal Dominant 0000006 NCBIGene:4137 biolink:gene_associated_with_condition MONDO:0010997 infores:ubergraph knowledge_assertion manual_agent HGNC:6893 MONDO:0010997 NCBIGene:7592 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen NCBIGene:7592 MONDO:0019181 Disputed 2021-03-16T17:12:35.415Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d705685-78a3-4925-8a1b-e00d39d63f87-2021-03-16T171235.415Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:23761 biolink:gene_associated_with_condition MONDO:0030045 infores:clingen HGNC:8999 MONDO:0030045 Moderate 2024-10-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c79d65c7-3c7b-42fa-a84b-894bc865316d-2024-10-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23495 biolink:gene_associated_with_condition MONDO:0009413 infores:ubergraph knowledge_assertion manual_agent HGNC:18153 MONDO:0009413 NCBIGene:8565 biolink:gene_associated_with_condition MONDO:0012012 infores:ubergraph knowledge_assertion manual_agent HGNC:12840 MONDO:0012012 NCBIGene:79719 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79719 MONDO:0700096 No evidence available 0 true NCBIGene:83715 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83715 MONDO:0700096 No evidence available 0 true NCBIGene:3769 biolink:gene_associated_with_condition MONDO:0013613 infores:ubergraph knowledge_assertion manual_agent HGNC:6259 MONDO:0013613 NCBIGene:3849 biolink:gene_associated_with_condition MONDO:0007813 infores:ubergraph knowledge_assertion manual_agent HGNC:6439 MONDO:0007813 NCBIGene:7284 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:12420 MONDO:0044970 Moderate 2023-10-02T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da1707cf-80cd-4669-be96-b273ac96b8b4-2023-10-02T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:1528 biolink:gene_associated_with_condition MONDO:0009605 infores:ubergraph knowledge_assertion manual_agent HGNC:2570 MONDO:0009605 NCBIGene:64218 biolink:gene_associated_with_condition MONDO:0012464 infores:ubergraph knowledge_assertion manual_agent HGNC:10729 MONDO:0012464 NCBIGene:79693 biolink:gene_associated_with_condition MONDO:0030476 infores:ubergraph knowledge_assertion manual_agent HGNC:28905 MONDO:0030476 NCBIGene:84665 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:23246 MONDO:0005021 Limited 2025-03-05T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffd924ad-55ce-4b05-8a91-584ef49b4e80-2025-03-05T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:51633 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:24281 MONDO:0000508 Definitive 2024-08-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c60103c-7d9b-4dca-aa03-151130c5d6db-2024-08-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:526 biolink:gene_associated_with_condition MONDO:0014646 infores:ubergraph knowledge_assertion manual_agent HGNC:854 MONDO:0014646 NCBIGene:2617 biolink:gene_associated_with_condition MONDO:0011091 infores:ubergraph knowledge_assertion manual_agent HGNC:4162 MONDO:0011091 NCBIGene:221078 biolink:gene_associated_with_condition MONDO:0968944 infores:ubergraph knowledge_assertion manual_agent HGNC:23529 MONDO:0968944 NCBIGene:84225 biolink:gene_associated_with_condition MONDO:0014366 infores:clingen NCBIGene:84225 MONDO:0014366 Gene associated with autosomal recessive phenotype 30 NCBIGene:91942 biolink:gene_associated_with_condition MONDO:0032616 infores:ubergraph knowledge_assertion manual_agent HGNC:28086 MONDO:0032616 NCBIGene:3753 biolink:gene_associated_with_condition MONDO:0013372 infores:ubergraph knowledge_assertion manual_agent HGNC:6240 MONDO:0013372 NCBIGene:4070 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4070 MONDO:0700096 No evidence available 0 true NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:6215 MONDO:0019497 Limited 2018-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5239ac3-1506-4b0e-9055-632ba895ca0c-2018-02-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4774 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4774 MONDO:0700096 No evidence available 0 true NCBIGene:4158 biolink:gene_associated_with_condition MONDO:0024536 infores:clingen NCBIGene:4158 MONDO:0024536 Gene associated with autosomal recessive phenotype 30 NCBIGene:1296 biolink:gene_associated_with_condition MONDO:0012199 infores:ubergraph knowledge_assertion manual_agent HGNC:2216 MONDO:0012199 NCBIGene:212 biolink:gene_associated_with_condition MONDO:0020721 infores:ubergraph knowledge_assertion manual_agent HGNC:397 MONDO:0020721 NCBIGene:5663 biolink:gene_associated_with_condition MONDO:0013398 infores:ubergraph knowledge_assertion manual_agent HGNC:9508 MONDO:0013398 NCBIGene:146183 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:16378 MONDO:0019497 Definitive 2018-05-01T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87661be2-f024-49bb-a60e-a906f7f113b7-2018-05-01T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:10479 biolink:gene_associated_with_condition MONDO:0010278 infores:clingen NCBIGene:10479 MONDO:0010278 Definitive 2018-05-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d97fc8d-e744-449a-939c-386895c121cd-2018-05-02T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:85358 biolink:gene_associated_with_condition MONDO:0013498 infores:ubergraph knowledge_assertion manual_agent HGNC:14294 MONDO:0013498 NCBIGene:54768 biolink:gene_associated_with_condition MONDO:0012088 infores:clingen HGNC:19368 MONDO:0012088 Definitive 2022-02-22T18:34:11.247Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c491ab7-496f-43b9-9bca-500901cb686d-2022-02-22T183411.247Z AR Autosomal Recessive 0000007 NCBIGene:1513 biolink:gene_associated_with_condition MONDO:0009940 infores:ubergraph knowledge_assertion manual_agent HGNC:2536 MONDO:0009940 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0009406 infores:clingen HGNC:60 MONDO:0009406 Definitive 2025-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53f8043c-d672-4dfd-a1b7-c5fd6e1cdcae-2025-02-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4552 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4552 MONDO:0700096 No evidence available 0 true NCBIGene:6651 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6651 MONDO:0700096 No evidence available 0 true NCBIGene:60506 biolink:gene_associated_with_condition MONDO:0800407 infores:ubergraph knowledge_assertion manual_agent HGNC:8082 MONDO:0800407 NCBIGene:1738 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:2898 MONDO:0009723 Definitive 2021-03-11T17:12:46.198Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_990dd96f-16ec-4c0f-a46b-ce4a647b7a50-2021-03-11T171246.198Z AR Autosomal Recessive 0000007 NCBIGene:117581 biolink:gene_associated_with_condition MONDO:0008853 infores:ubergraph knowledge_assertion manual_agent HGNC:20670 MONDO:0008853 NCBIGene:6597 biolink:gene_associated_with_condition MONDO:0013821 infores:ubergraph knowledge_assertion manual_agent HGNC:11100 MONDO:0013821 NCBIGene:1497 biolink:gene_associated_with_condition MONDO:0016239 infores:clingen HGNC:2518 MONDO:0016239 Definitive 2022-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51c40c8e-b9e5-4f2e-a587-f75b029397af-2022-03-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2318 biolink:gene_associated_with_condition MONDO:0012289 infores:ubergraph knowledge_assertion manual_agent HGNC:3756 MONDO:0012289 NCBIGene:6622 biolink:gene_associated_with_condition MONDO:0011562 infores:ubergraph knowledge_assertion manual_agent HGNC:11138 MONDO:0011562 NCBIGene:51626 biolink:gene_associated_with_condition MONDO:0014907 infores:ubergraph knowledge_assertion manual_agent HGNC:24595 MONDO:0014907 NCBIGene:1716 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2858 MONDO:0044970 Definitive 2024-02-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd4c3ef2-6738-4770-ad64-4db31672ca9a-2024-02-22T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0019019 infores:clingen HGNC:2197 MONDO:0019019 Definitive 2022-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_adc78f61-1e90-4496-ab30-b1fb0d6dcf5b-2022-06-06T160000.000Z AD Autosomal Dominant 0000006 MONDO:0017326 biolink:gene_associated_with_condition MONDO:0859592 infores:ubergraph knowledge_assertion manual_agent NCIT:C129260 NCIT:C129318 NCBIGene:79709 biolink:gene_associated_with_condition MONDO:0100105 infores:ubergraph knowledge_assertion manual_agent HGNC:26182 MONDO:0100105 NCBIGene:2584 biolink:gene_associated_with_condition MONDO:0009255 infores:clingen NCBIGene:2584 MONDO:0009255 Definitive 2021-09-30T16:13:17.166Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecd4568c-966e-4ac3-b3d2-b4ac119a7d80-2021-09-30T161317.166Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51776 biolink:gene_associated_with_condition MONDO:0054695 infores:ubergraph knowledge_assertion manual_agent HGNC:17797 MONDO:0054695 NCBIGene:7092 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:11843 MONDO:0005453 Limited 2024-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37ed8aea-d2e0-4bab-9e21-4f5ac823ce99-2024-05-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23483 biolink:gene_associated_with_condition MONDO:0014507 infores:ubergraph knowledge_assertion manual_agent HGNC:20324 MONDO:0014507 NCBIGene:3664 biolink:gene_associated_with_condition MONDO:0007333 infores:ubergraph knowledge_assertion manual_agent HGNC:6121 MONDO:0007333 NCBIGene:3587 biolink:gene_associated_with_condition MONDO:0013153 infores:clingen NCBIGene:3587 MONDO:0013153 Definitive 2024-12-10T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec3a4174-5d67-46d8-9760-8bcbe274abce-2024-12-10T180000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1428 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2418 MONDO:0019497 Limited 2021-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d15cf48a-3696-467a-b3c8-a45ef5a577bf-2021-09-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7168 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7168 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9757 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9757 MONDO:0700096 No evidence available 0 true NCBIGene:5321 biolink:gene_associated_with_condition MONDO:0018794 infores:ubergraph knowledge_assertion manual_agent HGNC:9035 MONDO:0018794 NCBIGene:55054 biolink:gene_associated_with_condition MONDO:0012610 infores:ubergraph knowledge_assertion manual_agent HGNC:21498 MONDO:0012610 NCBIGene:166336 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:20340 MONDO:0100038 Limited 2022-12-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1713884-4e19-4810-b73f-871645cfc0c3-2022-12-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1545 biolink:gene_associated_with_condition MONDO:0800472 infores:ubergraph knowledge_assertion manual_agent HGNC:2597 MONDO:0800472 NCBIGene:713 biolink:gene_associated_with_condition MONDO:0013343 infores:clingen NCBIGene:713 MONDO:0013343 Definitive 2017-01-09T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3216 AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51119 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51119 MONDO:0700096 No evidence available 0 true NCBIGene:5723 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5723 MONDO:0700096 No evidence available 0 true NCBIGene:127833 biolink:gene_associated_with_condition MONDO:0030341 infores:ubergraph knowledge_assertion manual_agent HGNC:11510 MONDO:0030341 NCBIGene:8842 biolink:gene_associated_with_condition MONDO:1040053 infores:clingen HGNC:9454 MONDO:1040053 Definitive 2024-10-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b728d068-262a-4d66-b615-75a539005c82-2024-10-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2969 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2969 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4287 biolink:gene_associated_with_condition MONDO:0007182 infores:ubergraph knowledge_assertion manual_agent HGNC:7106 MONDO:0007182 NCBIGene:2775 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen NCBIGene:2775 MONDO:0100062 Definitive 2018-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b56856e2-8e6f-4f01-a6bd-1642fee71e5b-2018-12-18T170000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:2887 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2887 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9842 biolink:gene_associated_with_condition MONDO:0020848 infores:ubergraph knowledge_assertion manual_agent HGNC:29017 MONDO:0020848 NCBIGene:4913 biolink:gene_associated_with_condition MONDO:0014630 infores:ubergraph knowledge_assertion manual_agent HGNC:8028 MONDO:0014630 NCBIGene:5824 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:9713 MONDO:0019234 Definitive 2023-04-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa073c77-0623-4e82-b5b2-9fcd0eb0dc6e-2023-04-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:337 biolink:gene_associated_with_condition MONDO:0008264 infores:clingen HGNC:602 MONDO:0008264 Limited 2024-02-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_433a4c49-838e-4601-92af-caece99d62eb-2024-02-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:26227 biolink:gene_associated_with_condition MONDO:0009736 infores:ubergraph knowledge_assertion manual_agent HGNC:8923 MONDO:0009736 NCBIGene:5358 biolink:gene_associated_with_condition MONDO:0010606 infores:ubergraph knowledge_assertion manual_agent HGNC:9091 MONDO:0010606 NCBIGene:1736 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1736 MONDO:0700096 No evidence available 0 true NCBIGene:1841 biolink:gene_associated_with_condition MONDO:0859241 infores:ubergraph knowledge_assertion manual_agent HGNC:3061 MONDO:0859241 NCBIGene:80310 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:30620 MONDO:0015924 Limited 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5da6fc7-e3a0-4de1-b69d-b86f312b48a1-2022-11-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4553 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7475 MONDO:0044970 Definitive 2024-03-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222b73fe-4a05-457f-bc36-f32dc4877056-2024-03-04T170000.000Z MT Mitochondrial 0001427 NCBIGene:23334 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:29040 MONDO:0100062 Definitive 2021-02-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5c3ef40-481f-4e10-a99c-9d208ae9574b-2021-02-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:111 biolink:gene_associated_with_condition MONDO:0859211 infores:ubergraph knowledge_assertion manual_agent HGNC:236 MONDO:0859211 NCBIGene:4141 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:6898 MONDO:0015626 Limited 2020-10-05T16:06:51.479Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f042c42-893b-4c98-a719-0f778a54be43-2020-10-05T160651.479Z AD Autosomal Dominant 0000006 NCBIGene:3716 biolink:gene_associated_with_condition MONDO:0033558 infores:clingen HGNC:6190 MONDO:0033558 Definitive 2025-03-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c408f8f6-2b49-49b8-bccc-a5dbd7df1dab-2025-03-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2332 biolink:gene_associated_with_condition MONDO:0010383 infores:clingen NCBIGene:2332 MONDO:0010383 Definitive 2019-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e491d278-7123-434c-8de3-46e16afb4037-2019-06-03T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:148738 biolink:gene_associated_with_condition MONDO:0011216 infores:clingen NCBIGene:148738 MONDO:0011216 Definitive 2025-07-11T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75f1b8de-7c82-4cb1-923a-8fb8827c8b15-2025-07-11T070000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:83861 biolink:gene_associated_with_condition MONDO:0014657 infores:ubergraph knowledge_assertion manual_agent HGNC:21054 MONDO:0014657 NCBIGene:6328 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:10590 MONDO:0100062 Definitive 2022-05-09T23:31:02.697Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9750183-c66c-4dd8-855e-9509fc9c25c6-2022-05-09T233102.697Z AD Autosomal Dominant 0000006 NCBIGene:116369 biolink:gene_associated_with_condition MONDO:0011720 infores:ubergraph knowledge_assertion manual_agent HGNC:14468 MONDO:0011720 NCBIGene:3857 biolink:gene_associated_with_condition MONDO:0007758 infores:ubergraph knowledge_assertion manual_agent HGNC:6447 MONDO:0007758 NCBIGene:1778 biolink:gene_associated_with_condition MONDO:0018894 infores:clingen NCBIGene:1778 MONDO:0018894 true No evidence available 0 NCBIGene:10952 biolink:gene_associated_with_condition MONDO:0550003 infores:clingen HGNC:16993 MONDO:0550003 Limited 2023-08-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fc2c7f6-caef-4f23-82ba-2360a5eb0990-2023-08-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9455 biolink:gene_associated_with_condition MONDO:0014740 infores:ubergraph knowledge_assertion manual_agent HGNC:17513 MONDO:0014740 NCBIGene:51594 biolink:gene_associated_with_condition MONDO:0013889 infores:ubergraph knowledge_assertion manual_agent HGNC:15625 MONDO:0013889 NCBIGene:90624 biolink:gene_associated_with_condition MONDO:0014364 infores:ubergraph knowledge_assertion manual_agent HGNC:28072 MONDO:0014364 NCBIGene:727 biolink:gene_associated_with_condition MONDO:0012295 infores:ubergraph knowledge_assertion manual_agent HGNC:1331 MONDO:0012295 NCBIGene:3145 biolink:gene_associated_with_condition MONDO:0008294 infores:clingen NCBIGene:3145 MONDO:0008294 Definitive 2022-05-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eab4b1f6-2902-4ed3-9002-37c578aeaaba-2022-05-27T160000.000Z SD Semidominant 0032113 Sufficient evidence for dosage pathogenicity 3 NCBIGene:83552 biolink:gene_associated_with_condition MONDO:0012299 infores:ubergraph knowledge_assertion manual_agent HGNC:18121 MONDO:0012299 NCBIGene:6843 biolink:gene_associated_with_condition MONDO:0007164 infores:ubergraph knowledge_assertion manual_agent HGNC:12642 MONDO:0007164 NCBIGene:5925 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5925 MONDO:0700096 No evidence available 0 true NCBIGene:51 biolink:gene_associated_with_condition MONDO:0009919 infores:clingen HGNC:119 MONDO:0009919 Definitive 2022-11-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96026ae4-050d-4eb5-849c-178c703a556e-2022-11-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:546 biolink:gene_associated_with_condition MONDO:0010519 infores:clingen NCBIGene:546 MONDO:0010519 Sufficient evidence for dosage pathogenicity 3 NCBIGene:284086 biolink:gene_associated_with_condition MONDO:0014174 infores:ubergraph knowledge_assertion manual_agent HGNC:13387 MONDO:0014174 NCBIGene:3229 biolink:gene_associated_with_condition MONDO:0013976 infores:ubergraph knowledge_assertion manual_agent HGNC:5125 MONDO:0013976 NCBIGene:5000 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5000 MONDO:0700096 No evidence available 0 true NCBIGene:5192 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8851 MONDO:0019234 Definitive 2019-12-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f7f094-ac3b-4309-ad8f-8e604f006485-2019-12-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:286464 biolink:gene_associated_with_condition MONDO:0025354 infores:ubergraph knowledge_assertion manual_agent HGNC:26708 MONDO:0025354 NCBIGene:925 biolink:gene_associated_with_condition MONDO:0012161 infores:clingen NCBIGene:925 MONDO:0012161 Limited 2022-08-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f770ad34-1c95-4454-92c7-26bff4404cc2-2022-08-18T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:80270 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:80270 MONDO:0700096 No evidence available 0 true NCBIGene:84522 biolink:gene_associated_with_condition MONDO:0014456 infores:ubergraph knowledge_assertion manual_agent HGNC:26926 MONDO:0014456 NCBIGene:1756 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1756 MONDO:0700096 No evidence available 0 true NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0020835 infores:clingen HGNC:4823 MONDO:0020835 Limited 2024-03-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_599e57aa-17fd-40f4-9e13-a1968e57e9ed-2024-03-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1352 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:1352 MONDO:0009723 Moderate 2019-05-20T18:28:01.393Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48794019-db9d-47c2-9977-4dc76a7d07b3-2019-05-20T182801.393Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0017790 infores:clingen HGNC:583 MONDO:0017790 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22036d0d-71a8-4824-894b-0de40c412e15-2022-06-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:55329 biolink:gene_associated_with_condition MONDO:0030070 infores:ubergraph knowledge_assertion manual_agent HGNC:29636 MONDO:0030070 NCBIGene:4541 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7462 MONDO:0009723 Definitive 2021-05-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_836f975f-27f5-47c9-a58e-35089b6b39e6-2021-05-17T040000.000Z MT Mitochondrial 0001427 NCBIGene:4702 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7692 MONDO:0044970 Moderate 2024-01-18T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34368748-ec12-4b2a-8bfc-3d81b7583033-2024-01-18T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0100351 infores:clingen HGNC:9175 MONDO:0100351 Definitive 2023-07-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c064a017-9158-4eb5-8ea4-036e53798d2c-2023-07-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2542 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2542 MONDO:0700096 No evidence available 0 true NCBIGene:55553 biolink:gene_associated_with_condition MONDO:0033544 infores:ubergraph knowledge_assertion manual_agent HGNC:16421 MONDO:0033544 NCBIGene:55152 biolink:gene_associated_with_condition MONDO:0030054 infores:ubergraph knowledge_assertion manual_agent HGNC:25536 MONDO:0030054 NCBIGene:26053 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26053 MONDO:0700096 No evidence available 0 true NCBIGene:55005 biolink:gene_associated_with_condition MONDO:0013969 infores:clingen NCBIGene:55005 MONDO:0013969 Gene associated with autosomal recessive phenotype 30 NCBIGene:55366 biolink:gene_associated_with_condition MONDO:0859205 infores:ubergraph knowledge_assertion manual_agent HGNC:13299 MONDO:0859205 NCBIGene:1499 biolink:gene_associated_with_condition MONDO:0100571 infores:ubergraph knowledge_assertion manual_agent HGNC:2514 MONDO:0100571 NCBIGene:56270 biolink:gene_associated_with_condition MONDO:0060704 infores:ubergraph knowledge_assertion manual_agent HGNC:25072 MONDO:0060704 NCBIGene:54970 biolink:gene_associated_with_condition MONDO:0032924 infores:ubergraph knowledge_assertion manual_agent HGNC:23700 MONDO:0032924 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0007947 infores:clingen NCBIGene:2200 MONDO:0007947 Definitive 2019-03-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3fc0bea-4d6e-449e-885c-b204e6a0b2bf-2019-03-04T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10134 biolink:gene_associated_with_condition MONDO:0010334 infores:ubergraph knowledge_assertion manual_agent HGNC:16695 MONDO:0010334 NCBIGene:699 biolink:gene_associated_with_condition MONDO:0859342 infores:ubergraph knowledge_assertion manual_agent HGNC:1148 MONDO:0859342 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0018023 infores:ubergraph knowledge_assertion manual_agent HGNC:4827 MONDO:0018023 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010233 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010233 NCBIGene:4212 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:4212 MONDO:0000508 Definitive 2022-04-22T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe156246-6e64-4096-a4c5-a83a3e70dbb9-2022-04-22T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:348180 biolink:gene_associated_with_condition MONDO:0020647 infores:ubergraph knowledge_assertion manual_agent HGNC:28005 MONDO:0020647 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0100606 infores:ubergraph knowledge_assertion manual_agent HGNC:2198 MONDO:0100606 NCBIGene:10165 biolink:gene_associated_with_condition MONDO:0011326 infores:ubergraph knowledge_assertion manual_agent HGNC:10983 MONDO:0011326 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0007841 infores:clingen NCBIGene:9496 MONDO:0007841 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5277 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5277 MONDO:0700096 No evidence available 0 true NCBIGene:8930 biolink:gene_associated_with_condition MONDO:0011695 infores:ubergraph knowledge_assertion manual_agent HGNC:6919 MONDO:0011695 NCBIGene:23086 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23086 MONDO:0700096 No evidence available 0 true NCBIGene:2161 biolink:gene_associated_with_condition MONDO:0009315 infores:ubergraph knowledge_assertion manual_agent HGNC:3530 MONDO:0009315 NCBIGene:54676 biolink:gene_associated_with_condition MONDO:0060711 infores:clingen HGNC:4670 MONDO:0060711 Definitive 2024-08-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8e1f8d9-d8e8-428c-9860-f84bb96ff9ea-2024-08-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57582 biolink:gene_associated_with_condition MONDO:0014002 infores:ubergraph knowledge_assertion manual_agent HGNC:18865 MONDO:0014002 NCBIGene:4647 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7606 MONDO:0019497 Definitive 2018-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_598b33f0-cdad-4290-b6eb-f9c2304c7bb6-2018-03-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7577 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ec27d4f-70ea-4c6a-ad67-d6260ecadcde-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3643 biolink:gene_associated_with_condition MONDO:0009517 infores:ubergraph knowledge_assertion manual_agent HGNC:6091 MONDO:0009517 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0008974 infores:ubergraph knowledge_assertion manual_agent HGNC:6518 MONDO:0008974 NCBIGene:285489 biolink:gene_associated_with_condition MONDO:0100103 infores:ubergraph knowledge_assertion manual_agent HGNC:26594 MONDO:0100103 NCBIGene:64324 biolink:gene_associated_with_condition MONDO:0019349 infores:clingen NCBIGene:64324 MONDO:0019349 Definitive 2018-10-26T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa1a412a-ee7d-4517-81ba-0ceead9668d1-2018-10-26T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0007947 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0007947 NCBIGene:3604 biolink:gene_associated_with_condition MONDO:0859526 infores:clingen HGNC:11924 MONDO:0859526 Definitive 2025-04-15T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5baa1f6-63ef-46a7-8723-1c79844e0320-2025-04-15T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:55135 biolink:gene_associated_with_condition MONDO:0100137 infores:clingen HGNC:25522 MONDO:0100137 Moderate 2025-06-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8eb8438d-47db-4263-9ad6-fdabfcffc7a9-2025-06-17T160000.000Z SD Semidominant 0032113 NCBIGene:154881 biolink:gene_associated_with_condition MONDO:0012721 infores:ubergraph knowledge_assertion manual_agent HGNC:21957 MONDO:0012721 NCBIGene:57798 biolink:gene_associated_with_condition MONDO:0013848 infores:ubergraph knowledge_assertion manual_agent HGNC:29941 MONDO:0013848 NCBIGene:5880 biolink:gene_associated_with_condition MONDO:0011988 infores:ubergraph knowledge_assertion manual_agent HGNC:9802 MONDO:0011988 NCBIGene:11274 biolink:gene_associated_with_condition MONDO:0018828 infores:ubergraph knowledge_assertion manual_agent HGNC:12616 MONDO:0018828 NCBIGene:10481 biolink:gene_associated_with_condition MONDO:0012597 infores:ubergraph knowledge_assertion manual_agent HGNC:5112 MONDO:0012597 NCBIGene:7173 biolink:gene_associated_with_condition MONDO:0010133 infores:clingen NCBIGene:7173 MONDO:0010133 Gene associated with autosomal recessive phenotype 30 NCBIGene:5146 biolink:gene_associated_with_condition MONDO:1040028 infores:ubergraph knowledge_assertion manual_agent HGNC:8787 MONDO:1040028 NCBIGene:5318 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen HGNC:9024 MONDO:0017990 Disputed 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1231ec3b-3570-48dd-bea4-f7cd7fc54811-2021-01-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2202 biolink:gene_associated_with_condition MONDO:0005338 infores:clingen HGNC:3218 MONDO:0005338 Moderate 2024-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0363f777-b1d5-4c74-bee3-0bd783cf1db2-2024-12-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2334 biolink:gene_associated_with_condition MONDO:0010659 infores:ubergraph knowledge_assertion manual_agent HGNC:3776 MONDO:0010659 NCBIGene:10369 biolink:gene_associated_with_condition MONDO:0013657 infores:ubergraph knowledge_assertion manual_agent HGNC:1406 MONDO:0013657 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0017042 infores:clingen HGNC:3690 MONDO:0017042 Definitive 2022-01-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c00b5e7-5685-4f03-b9ac-1601b62e57c5-2022-01-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:37 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:37 MONDO:0700096 No evidence available 0 true NCBIGene:23469 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen NCBIGene:23469 MONDO:0005258 true Little evidence for dosage pathogenicity 1 NCBIGene:389434 biolink:gene_associated_with_condition MONDO:0010136 infores:ubergraph knowledge_assertion manual_agent HGNC:21071 MONDO:0010136 NCBIGene:1956 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1956 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:129880 biolink:gene_associated_with_condition MONDO:1040047 infores:clingen HGNC:970 MONDO:1040047 Definitive 2023-12-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdb1249e-ab95-4d34-a43f-1dbb09eb3d94-2023-12-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6487 biolink:gene_associated_with_condition MONDO:0012612 infores:ubergraph knowledge_assertion manual_agent HGNC:10866 MONDO:0012612 NCBIGene:9780 biolink:gene_associated_with_condition MONDO:0014797 infores:ubergraph knowledge_assertion manual_agent HGNC:28993 MONDO:0014797 NCBIGene:23332 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23332 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:23586 biolink:gene_associated_with_condition MONDO:0014575 infores:ubergraph knowledge_assertion manual_agent HGNC:19102 MONDO:0014575 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0013038 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0013038 NCBIGene:161742 biolink:gene_associated_with_condition MONDO:0012669 infores:clingen NCBIGene:161742 MONDO:0012669 Definitive 2019-01-24T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ba44430-8f71-4b94-a6f1-7f66d3a27897-2019-01-24T050000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:28976 biolink:gene_associated_with_condition MONDO:0012624 infores:ubergraph knowledge_assertion manual_agent HGNC:21497 MONDO:0012624 NCBIGene:4677 biolink:gene_associated_with_condition MONDO:0030837 infores:ubergraph knowledge_assertion manual_agent HGNC:7643 MONDO:0030837 NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0008146 infores:clingen NCBIGene:1277 MONDO:0008146 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23207 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:29131 MONDO:0005021 Moderate 2024-11-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c534b9-16d1-435b-9eca-fb7d1de6ea26-2024-11-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3954 biolink:gene_associated_with_condition MONDO:0008684 infores:clingen NCBIGene:3954 MONDO:0008684 true No evidence available 0 NCBIGene:64087 biolink:gene_associated_with_condition MONDO:0018950 infores:clingen HGNC:6937 MONDO:0018950 Definitive 2019-10-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3653ea30-b630-499a-a6f0-65152106ad8c-2019-10-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4643 biolink:gene_associated_with_condition MONDO:0013589 infores:ubergraph knowledge_assertion manual_agent HGNC:7599 MONDO:0013589 NCBIGene:91624 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:29557 MONDO:0005045 Limited 2023-03-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9456bdef-7708-45b2-a698-c897167d7f5b-2023-03-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:116150 biolink:gene_associated_with_condition MONDO:0014904 infores:ubergraph knowledge_assertion manual_agent HGNC:21042 MONDO:0014904 NCBIGene:28514 biolink:gene_associated_with_condition MONDO:0032877 infores:ubergraph knowledge_assertion manual_agent HGNC:2908 MONDO:0032877 NCBIGene:1630 biolink:gene_associated_with_condition MONDO:0100515 infores:clingen HGNC:2701 MONDO:0100515 Definitive 2022-07-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f923f025-a973-4af8-b2c2-00dc39ed3026-2022-07-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:65267 biolink:gene_associated_with_condition MONDO:0010667 infores:ubergraph knowledge_assertion manual_agent HGNC:14543 MONDO:0010667 NCBIGene:51750 biolink:gene_associated_with_condition MONDO:0014076 infores:ubergraph knowledge_assertion manual_agent HGNC:15888 MONDO:0014076 NCBIGene:9228 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:2906 MONDO:0100038 Limited 2021-10-13T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efeafdd5-9105-470f-b332-8c7a3dd65078-2021-10-13T220000.000Z AD Autosomal Dominant 0000006 NCBIGene:3978 biolink:gene_associated_with_condition MONDO:0030693 infores:clingen HGNC:6598 MONDO:0030693 Definitive 2025-09-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7b33b7e-2161-47f4-a20c-9bd1f735d3f7-2025-09-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9320 biolink:gene_associated_with_condition MONDO:0030914 infores:clingen NCBIGene:9320 MONDO:0030914 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10935 biolink:gene_associated_with_condition MONDO:0859245 infores:ubergraph knowledge_assertion manual_agent HGNC:9354 MONDO:0859245 NCBIGene:6712 biolink:gene_associated_with_condition MONDO:0010848 infores:ubergraph knowledge_assertion manual_agent HGNC:11276 MONDO:0010848 NCBIGene:51475 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:1385 MONDO:0019497 Definitive 2020-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20de88d2-6681-4522-9e11-26cdf66a2c15-2020-02-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:10083 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:12597 MONDO:0019497 Limited 2018-06-11T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4194490-1b41-4d6d-be63-4a2a8827bb85-2018-06-11T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:987 biolink:gene_associated_with_condition MONDO:0013863 infores:ubergraph knowledge_assertion manual_agent HGNC:1742 MONDO:0013863 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0012394 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0012394 NCBIGene:5476 biolink:gene_associated_with_condition MONDO:0009737 infores:clingen HGNC:9251 MONDO:0009737 Definitive 2022-09-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b46b7e30-216e-4f8a-a4b9-67d59b9ca655-2022-09-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0100082 infores:ubergraph knowledge_assertion manual_agent HGNC:9644 MONDO:0100082 NCBIGene:9896 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:16873 MONDO:0015626 Definitive 2025-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbc44812-5fe4-4e11-ac89-58e4175d4463-2025-01-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:60529 biolink:gene_associated_with_condition MONDO:0012309 infores:clingen NCBIGene:60529 MONDO:0012309 Sufficient evidence for dosage pathogenicity 3 NCBIGene:56160 biolink:gene_associated_with_condition MONDO:0014984 infores:ubergraph knowledge_assertion manual_agent HGNC:7677 MONDO:0014984 NCBIGene:2068 biolink:gene_associated_with_condition MONDO:0010212 infores:ubergraph knowledge_assertion manual_agent HGNC:3434 MONDO:0010212 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7576 MONDO:0005021 Limited 2025-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d55ac7b-e9d8-4a97-bb20-92beeffaed96-2025-03-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23019 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23019 MONDO:0100038 Definitive 2023-09-19T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0684b8e2-5552-44d3-a72e-2022e273e24f-2023-09-19T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:389856 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen HGNC:13486 MONDO:0100284 Limited 2023-02-01T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6aeec40-3974-4c03-8ac3-8f0fdd614d41-2023-02-01T190000.000Z XL X-linked 0001417 NCBIGene:4595 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:7527 MONDO:0016419 Disputed 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73e67e8c-0d12-44b1-a0d7-9fcc459b6773-2023-12-21T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:81615 biolink:gene_associated_with_condition MONDO:0859378 infores:ubergraph knowledge_assertion manual_agent HGNC:25380 MONDO:0859378 NCBIGene:7100 biolink:gene_associated_with_condition MONDO:0011138 infores:clingen HGNC:11851 MONDO:0011138 Limited 2025-02-12T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19220ed6-6724-43bc-9915-9de277183429-2025-02-12T200000.000Z UD Undetermined Mode of Inheritance NCBIGene:2979 biolink:gene_associated_with_condition MONDO:0013447 infores:ubergraph knowledge_assertion manual_agent HGNC:4679 MONDO:0013447 NCBIGene:83987 biolink:gene_associated_with_condition MONDO:0013627 infores:clingen NCBIGene:83987 MONDO:0013627 Gene associated with autosomal recessive phenotype 30 NCBIGene:23545 biolink:gene_associated_with_condition MONDO:0018163 infores:ubergraph knowledge_assertion manual_agent HGNC:18481 MONDO:0018163 NCBIGene:286676 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:28741 MONDO:0019497 Definitive 2017-11-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5e1a608-edc3-405c-805f-a7ed162c2bbc-2017-11-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4538 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7459 MONDO:0044970 Definitive 2023-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14ad3d43-a07b-4420-bc18-f10e71b5f974-2023-03-06T170000.000Z MT Mitochondrial 0001427 NCBIGene:23193 biolink:gene_associated_with_condition MONDO:0010916 infores:ubergraph knowledge_assertion manual_agent HGNC:4138 MONDO:0010916 NCBIGene:6601 biolink:gene_associated_with_condition MONDO:0032702 infores:ubergraph knowledge_assertion manual_agent HGNC:11105 MONDO:0032702 NCBIGene:1041 biolink:gene_associated_with_condition MONDO:0024548 infores:ubergraph knowledge_assertion manual_agent HGNC:1802 MONDO:0024548 NCBIGene:7439 biolink:gene_associated_with_condition MONDO:0700240 infores:ubergraph knowledge_assertion manual_agent HGNC:12703 MONDO:0700240 NCBIGene:367 biolink:gene_associated_with_condition MONDO:0010384 infores:ubergraph knowledge_assertion manual_agent HGNC:644 MONDO:0010384 NCBIGene:22897 biolink:gene_associated_with_condition MONDO:0013917 infores:clingen NCBIGene:22897 MONDO:0013917 Gene associated with autosomal recessive phenotype 30 NCBIGene:9690 biolink:gene_associated_with_condition MONDO:0859519 infores:ubergraph knowledge_assertion manual_agent HGNC:16803 MONDO:0859519 NCBIGene:4337 biolink:gene_associated_with_condition MONDO:0009643 infores:ubergraph knowledge_assertion manual_agent HGNC:7190 MONDO:0009643 NCBIGene:9517 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:11278 MONDO:0004976 Strong 2024-06-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402cf65d-02f1-4cc1-a45e-b3bd3ad48b86-2024-06-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4286 MONDO:0700096 No evidence available 0 true NCBIGene:6326 biolink:gene_associated_with_condition MONDO:0030064 infores:ubergraph knowledge_assertion manual_agent HGNC:10588 MONDO:0030064 NCBIGene:1968 biolink:gene_associated_with_condition MONDO:0010258 infores:ubergraph knowledge_assertion manual_agent HGNC:3267 MONDO:0010258 NCBIGene:728294 biolink:gene_associated_with_condition MONDO:0024554 infores:ubergraph knowledge_assertion manual_agent HGNC:28358 MONDO:0024554 NCBIGene:54538 biolink:gene_associated_with_condition MONDO:0032783 infores:ubergraph knowledge_assertion manual_agent HGNC:17985 MONDO:0032783 NCBIGene:5932 biolink:gene_associated_with_condition MONDO:0011715 infores:clingen NCBIGene:5932 MONDO:0011715 Gene associated with autosomal recessive phenotype 30 NCBIGene:7264 biolink:gene_associated_with_condition MONDO:0015286 infores:clingen HGNC:12390 MONDO:0015286 Limited 2025-08-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e0c344b-23cd-4a66-92ea-660cde8af203-2025-08-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:462 biolink:gene_associated_with_condition MONDO:0013144 infores:clingen HGNC:775 MONDO:0013144 Definitive 2020-02-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd6376b1-1593-461f-bfc8-cec5cfb1c3f8-2020-02-26T170000.000Z SD Semidominant 0032113 NCBIGene:253738 biolink:gene_associated_with_condition MONDO:0015021 infores:clingen NCBIGene:253738 MONDO:0015021 Definitive 2023-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c194cac3-00f5-44b5-9993-64cf7aca9cf4-2023-05-16T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:100151683 biolink:gene_associated_with_condition MONDO:0100558 infores:ubergraph knowledge_assertion manual_agent HGNC:34016 MONDO:0100558 NCBIGene:89891 biolink:gene_associated_with_condition MONDO:0014287 infores:clingen HGNC:28296 MONDO:0014287 Definitive 2025-02-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7dc00865-a061-41ff-94ef-5eb6c1d1a1ef-2025-02-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:64359 biolink:gene_associated_with_condition MONDO:0032800 infores:ubergraph knowledge_assertion manual_agent HGNC:18008 MONDO:0032800 NCBIGene:27034 biolink:gene_associated_with_condition MONDO:0012648 infores:ubergraph knowledge_assertion manual_agent HGNC:87 MONDO:0012648 NCBIGene:1120 biolink:gene_associated_with_condition MONDO:0011246 infores:ubergraph knowledge_assertion manual_agent HGNC:1938 MONDO:0011246 NCBIGene:57572 biolink:gene_associated_with_condition MONDO:0007034 infores:clingen HGNC:19189 MONDO:0007034 Definitive 2022-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea64d74c-583d-4ed1-af91-6a7c6f80a1d3-2022-06-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10157 biolink:gene_associated_with_condition MONDO:0009388 infores:clingen NCBIGene:10157 MONDO:0009388 Definitive 2022-10-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92e04f9e-f03e-4295-baac-e9fb6b48a258-2022-10-14T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10472 biolink:gene_associated_with_condition MONDO:0012869 infores:clingen NCBIGene:10472 MONDO:0012869 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4723 biolink:gene_associated_with_condition MONDO:0032609 infores:ubergraph knowledge_assertion manual_agent HGNC:7716 MONDO:0032609 NCBIGene:8738 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:2340 MONDO:0000508 Definitive 2021-06-16T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f64ee7f-13a7-4a2d-b1a2-ad6c9e63cab3-2021-06-16T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:6874 biolink:gene_associated_with_condition MONDO:0957536 infores:ubergraph knowledge_assertion manual_agent HGNC:11537 MONDO:0957536 NCBIGene:51010 biolink:gene_associated_with_condition MONDO:0013853 infores:ubergraph knowledge_assertion manual_agent HGNC:17944 MONDO:0013853 NCBIGene:6663 biolink:gene_associated_with_condition MONDO:0012198 infores:ubergraph knowledge_assertion manual_agent HGNC:11190 MONDO:0012198 NCBIGene:57502 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen NCBIGene:57502 MONDO:0100148 Definitive 2025-10-10T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bed32aec-b1a6-41ff-9607-b4172888c46a-2025-10-10T100000.000Z XL X-linked 0001417 Some evidence for dosage pathogenicity 2 NCBIGene:763 biolink:gene_associated_with_condition MONDO:0014332 infores:clingen NCBIGene:763 MONDO:0014332 Definitive 2018-09-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7c5731a-866e-4a96-abb0-f0747f89280b-2018-09-10T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57217 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57217 MONDO:0700096 No evidence available 0 true NCBIGene:1201 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:2074 MONDO:0016295 Definitive 2023-04-04T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6be652b4-092f-4d1c-9606-4dfeb689c4b9-2023-04-04T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:51181 biolink:gene_associated_with_condition MONDO:0009846 infores:clingen NCBIGene:51181 MONDO:0009846 Gene associated with autosomal recessive phenotype 30 NCBIGene:6016 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6016 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2582 biolink:gene_associated_with_condition MONDO:0958333 infores:ubergraph knowledge_assertion manual_agent HGNC:4116 MONDO:0958333 NCBIGene:3082 biolink:gene_associated_with_condition MONDO:0012003 infores:clingen NCBIGene:3082 MONDO:0012003 Gene associated with autosomal recessive phenotype 30 NCBIGene:4913 biolink:gene_associated_with_condition MONDO:0014630 infores:clingen NCBIGene:4913 MONDO:0014630 Gene associated with autosomal recessive phenotype 30 NCBIGene:8242 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen NCBIGene:8242 MONDO:0020119 Definitive 2018-09-19T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36896d71-1c04-4176-8cd9-16f5b283ef9c-2018-09-19T100000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1690 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2180 MONDO:0019497 Definitive 2018-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_998da390-3e32-4b80-a733-d64d87d5357b-2018-01-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84061 biolink:gene_associated_with_condition MONDO:0010455 infores:clingen NCBIGene:84061 MONDO:0010455 Sufficient evidence for dosage pathogenicity 3 NCBIGene:84033 biolink:gene_associated_with_condition MONDO:0859371 infores:ubergraph knowledge_assertion manual_agent HGNC:15719 MONDO:0859371 NCBIGene:6391 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6391 MONDO:0700096 No evidence available 0 true NCBIGene:4285 biolink:gene_associated_with_condition MONDO:0014976 infores:ubergraph knowledge_assertion manual_agent HGNC:7104 MONDO:0014976 NCBIGene:5092 biolink:gene_associated_with_condition MONDO:0009908 infores:ubergraph knowledge_assertion manual_agent HGNC:8646 MONDO:0009908 NCBIGene:5324 biolink:gene_associated_with_condition MONDO:0008401 infores:ubergraph knowledge_assertion manual_agent HGNC:9045 MONDO:0008401 NCBIGene:538 biolink:gene_associated_with_condition MONDO:0010338 infores:clingen HGNC:869 MONDO:0010338 Moderate 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec7c42f3-3cad-4020-aa75-cf103c5381ba-2023-01-10T170000.000Z XL X-linked 0001417 NCBIGene:10142 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:379 MONDO:0002442 Disputed 2020-12-15T00:26:07.349Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_786eac72-8014-4fdf-b279-10a5faaa09b8-2020-12-15T002607.349Z AD Autosomal Dominant 0000006 NCBIGene:5311 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5311 MONDO:0700096 No evidence available 0 true NCBIGene:64093 biolink:gene_associated_with_condition MONDO:0008800 infores:ubergraph knowledge_assertion manual_agent HGNC:20318 MONDO:0008800 NCBIGene:7249 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7249 MONDO:0700096 No evidence available 0 true NCBIGene:6655 biolink:gene_associated_with_condition MONDO:0014691 infores:ubergraph knowledge_assertion manual_agent HGNC:11188 MONDO:0014691 NCBIGene:64919 biolink:gene_associated_with_condition MONDO:0014981 infores:ubergraph knowledge_assertion manual_agent HGNC:13222 MONDO:0014981 NCBIGene:7849 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7849 MONDO:0700096 No evidence available 0 true NCBIGene:8560 biolink:gene_associated_with_condition MONDO:0032730 infores:clingen HGNC:13709 MONDO:0032730 Strong 2024-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a3090a0-8f88-4114-9438-87f8645ea133-2024-09-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51057 biolink:gene_associated_with_condition MONDO:0009008 infores:ubergraph knowledge_assertion manual_agent HGNC:28027 MONDO:0009008 NCBIGene:23322 biolink:gene_associated_with_condition MONDO:0030862 infores:ubergraph knowledge_assertion manual_agent HGNC:29168 MONDO:0030862 NCBIGene:4604 biolink:gene_associated_with_condition MONDO:0013698 infores:ubergraph knowledge_assertion manual_agent HGNC:7549 MONDO:0013698 NCBIGene:7507 biolink:gene_associated_with_condition MONDO:0010210 infores:clingen NCBIGene:7507 MONDO:0010210 Definitive 2018-11-02T21:36:51.734Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd298eb-1e1a-4283-851e-2dd24059ba22-2018-11-02T213651.734Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:29761 biolink:gene_associated_with_condition MONDO:0976128 infores:ubergraph knowledge_assertion manual_agent HGNC:12624 MONDO:0976128 NCBIGene:345895 biolink:gene_associated_with_condition MONDO:0012978 infores:clingen NCBIGene:345895 MONDO:0012978 Definitive 2022-04-05T15:04:44.668Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f876804-e14a-4c7e-a826-232c7f445c7f-2022-04-05T150444.668Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3460 biolink:gene_associated_with_condition MONDO:0017903 infores:ubergraph knowledge_assertion manual_agent HGNC:5440 MONDO:0017903 NCBIGene:5498 biolink:gene_associated_with_condition MONDO:0008297 infores:ubergraph knowledge_assertion manual_agent HGNC:9280 MONDO:0008297 NCBIGene:8050 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21350 MONDO:0044970 Definitive 2024-10-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a14c7cd-d88f-43c3-87c2-f3f4111788fd-2024-10-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10846 biolink:gene_associated_with_condition MONDO:0014835 infores:ubergraph knowledge_assertion manual_agent HGNC:8772 MONDO:0014835 NCBIGene:6687 biolink:gene_associated_with_condition MONDO:0011803 infores:ubergraph knowledge_assertion manual_agent HGNC:11237 MONDO:0011803 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen NCBIGene:7137 MONDO:0005045 Definitive 2017-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a7e6901-d478-44c4-bd03-2c344029d4bb-2017-09-05T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:567 biolink:gene_associated_with_condition MONDO:0971010 infores:ubergraph knowledge_assertion manual_agent HGNC:914 MONDO:0971010 NCBIGene:29926 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29926 MONDO:0700096 No evidence available 0 true NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0011775 infores:ubergraph knowledge_assertion manual_agent HGNC:11998 MONDO:0011775 NCBIGene:4041 biolink:gene_associated_with_condition MONDO:0700228 infores:clingen HGNC:6697 MONDO:0700228 Definitive 2023-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c46e0508-399f-48d0-9dbc-55f10cf8460d-2023-03-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84343 biolink:gene_associated_with_condition MONDO:0013555 infores:clingen NCBIGene:84343 MONDO:0013555 Definitive 2020-02-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80370671-df62-4330-89f4-216d350e5958-2020-02-26T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10806 biolink:gene_associated_with_condition MONDO:0014444 infores:clingen NCBIGene:10806 MONDO:0014444 Definitive 2024-08-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_515a5937-a075-4bb7-97d6-a8712720c10f-2024-08-01T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51741 biolink:gene_associated_with_condition MONDO:0014533 infores:ubergraph knowledge_assertion manual_agent HGNC:12799 MONDO:0014533 NCBIGene:3008 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:4718 MONDO:0000508 Definitive 2023-05-03T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd0a9f58-4fb1-4904-9c38-c3e4b70c536e-2023-05-03T060000.000Z AD Autosomal Dominant 0000006 NCBIGene:6091 biolink:gene_associated_with_condition MONDO:0957210 infores:ubergraph knowledge_assertion manual_agent HGNC:10249 MONDO:0957210 NCBIGene:23291 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23291 MONDO:0700096 Little evidence for dosage pathogenicity 1 true No evidence available 0 NCBIGene:51524 biolink:gene_associated_with_condition MONDO:0013764 infores:ubergraph knowledge_assertion manual_agent HGNC:26944 MONDO:0013764 NCBIGene:57582 biolink:gene_associated_with_condition MONDO:0013989 infores:ubergraph knowledge_assertion manual_agent HGNC:18865 MONDO:0013989 NCBIGene:10749 biolink:gene_associated_with_condition MONDO:0012651 infores:clingen NCBIGene:10749 MONDO:0012651 Gene associated with autosomal recessive phenotype 30 NCBIGene:26123 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:24519 MONDO:0005308 Definitive 2022-11-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2d88e7f-2d6d-423f-8602-c89b76849bef-2022-11-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:867 biolink:gene_associated_with_condition MONDO:0013308 infores:ubergraph knowledge_assertion manual_agent HGNC:1541 MONDO:0013308 NCBIGene:159686 biolink:gene_associated_with_condition MONDO:0030868 infores:ubergraph knowledge_assertion manual_agent HGNC:26676 MONDO:0030868 NCBIGene:3757 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:6251 MONDO:0015263 Disputed 2025-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78a9eafc-a8d8-4091-9d1a-13a11804b496-2025-06-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10125 biolink:gene_associated_with_condition MONDO:0032803 infores:ubergraph knowledge_assertion manual_agent HGNC:9878 MONDO:0032803 NCBIGene:22930 biolink:gene_associated_with_condition MONDO:0010822 infores:clingen NCBIGene:22930 MONDO:0010822 Gene associated with autosomal recessive phenotype 30 NCBIGene:10715 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:14253 MONDO:0020074 Moderate 2024-07-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b06288c1-72ae-4ed0-8a27-f886547a8808-2024-07-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7874 biolink:gene_associated_with_condition MONDO:0014805 infores:clingen NCBIGene:7874 MONDO:0014805 Definitive 2021-09-03T18:21:45.545Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e4961fa-f972-4e82-ac29-a511ff954529-2021-09-03T182145.545Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7128 biolink:gene_associated_with_condition MONDO:0800045 infores:ubergraph knowledge_assertion manual_agent HGNC:11896 MONDO:0800045 NCBIGene:6710 biolink:gene_associated_with_condition MONDO:0000913 infores:ubergraph knowledge_assertion manual_agent HGNC:11274 MONDO:0000913 NCBIGene:54820 biolink:gene_associated_with_condition MONDO:0700116 infores:clingen HGNC:17619 MONDO:0700116 Definitive 2024-12-10T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1661eceb-99dd-41d1-9253-6378595732cb-2024-12-10T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:6789 biolink:gene_associated_with_condition MONDO:0013934 infores:ubergraph knowledge_assertion manual_agent HGNC:11408 MONDO:0013934 NCBIGene:23189 biolink:gene_associated_with_condition MONDO:0013033 infores:ubergraph knowledge_assertion manual_agent HGNC:19309 MONDO:0013033 NCBIGene:3082 biolink:gene_associated_with_condition MONDO:0012003 infores:ubergraph knowledge_assertion manual_agent HGNC:4893 MONDO:0012003 NCBIGene:347344 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen HGNC:13156 MONDO:0100284 Disputed 2021-01-26T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3ada757-6500-46a1-a89e-42668bbdb934-2021-01-26T170000.000Z XL X-linked 0001417 NCBIGene:826 biolink:gene_associated_with_condition MONDO:0958334 infores:ubergraph knowledge_assertion manual_agent HGNC:1481 MONDO:0958334 NCBIGene:80326 biolink:gene_associated_with_condition MONDO:0100358 infores:ubergraph knowledge_assertion manual_agent HGNC:13829 MONDO:0100358 NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0008197 infores:clingen NCBIGene:4488 MONDO:0008197 true Little evidence for dosage pathogenicity 1 NCBIGene:4739 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:4739 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:26503 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26503 MONDO:0700096 No evidence available 0 true NCBIGene:27010 biolink:gene_associated_with_condition MONDO:0013761 infores:clingen NCBIGene:27010 MONDO:0013761 Gene associated with autosomal recessive phenotype 30 NCBIGene:64065 biolink:gene_associated_with_condition MONDO:0030961 infores:ubergraph knowledge_assertion manual_agent HGNC:17637 MONDO:0030961 NCBIGene:3251 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3251 MONDO:0700096 No evidence available 0 true NCBIGene:400916 biolink:gene_associated_with_condition MONDO:0014395 infores:clingen HGNC:15559 MONDO:0014395 Moderate 2022-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d154f67a-25ce-40d3-9de3-1f001753843a-2022-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4016 biolink:gene_associated_with_condition MONDO:0008327 infores:ubergraph knowledge_assertion manual_agent HGNC:6665 MONDO:0008327 NCBIGene:1111 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1111 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6440 biolink:gene_associated_with_condition MONDO:0024465 infores:ubergraph knowledge_assertion manual_agent HGNC:10802 MONDO:0024465 NCBIGene:55240 biolink:gene_associated_with_condition MONDO:0014094 infores:clingen HGNC:24592 MONDO:0014094 Disputed 2025-04-25T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81153e33-d848-4657-92d0-0c09ea4254ac-2025-04-25T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:4001 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4001 MONDO:0700096 true No evidence available 0 NCBIGene:2138 biolink:gene_associated_with_condition MONDO:0024532 infores:ubergraph knowledge_assertion manual_agent HGNC:3519 MONDO:0024532 NCBIGene:4487 biolink:gene_associated_with_condition MONDO:0012142 infores:ubergraph knowledge_assertion manual_agent HGNC:7391 MONDO:0012142 NCBIGene:5654 biolink:gene_associated_with_condition MONDO:0012419 infores:ubergraph knowledge_assertion manual_agent HGNC:9476 MONDO:0012419 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0054665 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0054665 NCBIGene:55005 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21176 MONDO:0044970 Definitive 2022-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e709765-beac-4f19-bcc0-181d0ce36f1b-2022-09-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7454 biolink:gene_associated_with_condition MONDO:0010743 infores:ubergraph knowledge_assertion manual_agent HGNC:12731 MONDO:0010743 NCBIGene:64094 biolink:gene_associated_with_condition MONDO:0007436 infores:clingen NCBIGene:64094 MONDO:0007436 Gene associated with autosomal recessive phenotype 30 NCBIGene:9128 biolink:gene_associated_with_condition MONDO:0014400 infores:ubergraph knowledge_assertion manual_agent HGNC:17349 MONDO:0014400 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0800183 infores:clingen HGNC:8620 MONDO:0800183 Definitive 2022-06-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e83f7da-f70f-4f06-a9f9-52bd20219088-2022-06-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0008234 infores:clingen HGNC:9967 MONDO:0008234 Definitive 2020-05-14T00:59:52.060Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5f3c875-2438-4bfe-b785-b86d7d3e6507-2020-05-14T005952.060Z AD Autosomal Dominant 0000006 NCBIGene:7473 biolink:gene_associated_with_condition MONDO:0060764 infores:ubergraph knowledge_assertion manual_agent HGNC:12782 MONDO:0060764 NCBIGene:161725 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:20718 MONDO:0100038 Limited 2023-06-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d6ba704-2333-4f70-9f74-54dfea711e5b-2023-06-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:120227 biolink:gene_associated_with_condition MONDO:0010810 infores:ubergraph knowledge_assertion manual_agent HGNC:20580 MONDO:0010810 NCBIGene:1806 biolink:gene_associated_with_condition MONDO:0010130 infores:clingen NCBIGene:1806 MONDO:0010130 Gene associated with autosomal recessive phenotype 30 NCBIGene:6338 biolink:gene_associated_with_condition MONDO:0859317 infores:ubergraph knowledge_assertion manual_agent HGNC:10600 MONDO:0859317 NCBIGene:6709 biolink:gene_associated_with_condition MONDO:0013277 infores:ubergraph knowledge_assertion manual_agent HGNC:11273 MONDO:0013277 NCBIGene:7030 biolink:gene_associated_with_condition MONDO:1040018 infores:clingen HGNC:11752 MONDO:1040018 Definitive 2024-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d36998f-4d2a-4485-bf51-ce5275fb86d7-2024-03-19T160000.000Z XL X-linked 0001417 NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0100506 infores:clingen HGNC:3438 MONDO:0100506 Definitive 2022-08-18T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9dbf99e-d648-465c-8aa5-0840e76c0aeb-2022-08-18T100000.000Z AR Autosomal Recessive 0000007 NCBIGene:286676 biolink:gene_associated_with_condition MONDO:0012326 infores:ubergraph knowledge_assertion manual_agent HGNC:28741 MONDO:0012326 NCBIGene:355 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:355 MONDO:0700096 No evidence available 0 true NCBIGene:335 biolink:gene_associated_with_condition MONDO:0971008 infores:ubergraph knowledge_assertion manual_agent HGNC:600 MONDO:0971008 NCBIGene:7012 biolink:gene_associated_with_condition MONDO:0007485 infores:ubergraph knowledge_assertion manual_agent HGNC:11727 MONDO:0007485 NCBIGene:26040 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26040 MONDO:0700096 No evidence available 0 true NCBIGene:10555 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10555 MONDO:0700096 No evidence available 0 true NCBIGene:6121 biolink:gene_associated_with_condition MONDO:0100368 infores:clingen NCBIGene:6121 MONDO:0100368 Definitive 2022-05-24T21:41:58.160Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_375ffa04-a8d9-427e-8948-f913bc8ff68d-2022-05-24T214158.160Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:83473 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:83473 MONDO:0100038 Disputed 2020-05-19T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eddbdd3e-2f6b-4b55-a951-988ee214b08b-2020-05-19T220000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:2657 biolink:gene_associated_with_condition MONDO:0013463 infores:ubergraph knowledge_assertion manual_agent HGNC:4214 MONDO:0013463 NCBIGene:10159 biolink:gene_associated_with_condition MONDO:0100146 infores:clingen HGNC:18305 MONDO:0100146 Definitive 2020-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac33652a-dd98-46f4-ba4e-d3d5a482a22e-2020-09-14T160000.000Z XL X-linked 0001417 NCBIGene:7305 biolink:gene_associated_with_condition MONDO:0020749 infores:clingen NCBIGene:7305 MONDO:0020749 Gene associated with autosomal recessive phenotype 30 NCBIGene:10295 biolink:gene_associated_with_condition MONDO:0013970 infores:ubergraph knowledge_assertion manual_agent HGNC:16902 MONDO:0013970 NCBIGene:55607 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55607 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:79925 biolink:gene_associated_with_condition MONDO:0032898 infores:ubergraph knowledge_assertion manual_agent HGNC:26293 MONDO:0032898 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0013211 infores:ubergraph knowledge_assertion manual_agent HGNC:11947 MONDO:0013211 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0800442 infores:clingen HGNC:7576 MONDO:0800442 Definitive 2023-05-09T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4a5ee-8b1d-44b7-87ca-967968d8c0c4-2023-05-09T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:10058 biolink:gene_associated_with_condition MONDO:0014169 infores:ubergraph knowledge_assertion manual_agent HGNC:47 MONDO:0014169 NCBIGene:1917 biolink:gene_associated_with_condition MONDO:0014625 infores:ubergraph knowledge_assertion manual_agent HGNC:3192 MONDO:0014625 NCBIGene:2073 biolink:gene_associated_with_condition MONDO:0010216 infores:clingen NCBIGene:2073 MONDO:0010216 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc08c954-8ded-449b-8f67-e4f044b26cda-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4704 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7693 MONDO:0009723 Moderate 2019-11-25T16:28:51.567Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87c6c5c5-7bf7-4bd2-94f0-2d529a512e74-2019-11-25T162851.567Z AR Autosomal Recessive 0000007 NCBIGene:56172 biolink:gene_associated_with_condition MONDO:0007319 infores:ubergraph knowledge_assertion manual_agent HGNC:15492 MONDO:0007319 NCBIGene:1380 biolink:gene_associated_with_condition MONDO:0013862 infores:ubergraph knowledge_assertion manual_agent HGNC:2336 MONDO:0013862 NCBIGene:1761 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1761 MONDO:0700096 No evidence available 0 true NCBIGene:10555 biolink:gene_associated_with_condition MONDO:0006573 infores:clingen HGNC:325 MONDO:0006573 Definitive 2024-11-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dfa30e7e-e750-4b65-bcd5-9421cc34fc43-2024-11-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:50485 biolink:gene_associated_with_condition MONDO:0009458 infores:ubergraph knowledge_assertion manual_agent HGNC:11102 MONDO:0009458 NCBIGene:10058 biolink:gene_associated_with_condition MONDO:0013783 infores:clingen HGNC:47 MONDO:0013783 Limited 2024-04-26T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45ec3fba-48fd-4bf4-b865-2c2d7216e8eb-2024-04-26T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:339983 biolink:gene_associated_with_condition MONDO:0013549 infores:ubergraph knowledge_assertion manual_agent HGNC:26742 MONDO:0013549 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0014701 infores:clingen HGNC:2200 MONDO:0014701 Moderate 2016-12-01T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4843 AD Autosomal Dominant 0000006 NCBIGene:23529 biolink:gene_associated_with_condition MONDO:0012467 infores:clingen NCBIGene:23529 MONDO:0012467 Gene associated with autosomal recessive phenotype 30 NCBIGene:10472 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:13030 MONDO:0100038 Definitive 2023-12-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8ea518c-64da-4d4f-8551-66a005307e94-2023-12-14T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:54757 biolink:gene_associated_with_condition MONDO:0008771 infores:ubergraph knowledge_assertion manual_agent HGNC:23015 MONDO:0008771 NCBIGene:1540 biolink:gene_associated_with_condition MONDO:0011512 infores:clingen NCBIGene:1540 MONDO:0011512 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_434ddb72-ee88-47af-9fa2-8dee9fa0a388-2019-04-19T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:3052 MONDO:0005045 Disputed 2022-06-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83a9ea83-5dec-4496-a5d8-9b5fdf9373d7-2022-06-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:285527 biolink:gene_associated_with_condition MONDO:0975953 infores:ubergraph knowledge_assertion manual_agent HGNC:29127 MONDO:0975953 NCBIGene:9640 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9640 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:65993 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:16618 MONDO:0009723 Moderate 2020-08-27T16:22:59.700Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41d20487-f150-41b6-947c-ce77e405e8de-2020-08-27T162259.700Z AR Autosomal Recessive 0000007 NCBIGene:5430 biolink:gene_associated_with_condition MONDO:0032829 infores:ubergraph knowledge_assertion manual_agent HGNC:9187 MONDO:0032829 NCBIGene:80347 biolink:gene_associated_with_condition MONDO:0032643 infores:ubergraph knowledge_assertion manual_agent HGNC:29932 MONDO:0032643 NCBIGene:3675 biolink:gene_associated_with_condition MONDO:0013881 infores:clingen NCBIGene:3675 MONDO:0013881 Definitive 2022-05-09T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dc277da-52f8-4f64-91a8-cd6c4f68db3a-2022-05-09T023000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:56997 biolink:gene_associated_with_condition MONDO:0012784 infores:ubergraph knowledge_assertion manual_agent HGNC:16812 MONDO:0012784 NCBIGene:51604 biolink:gene_associated_with_condition MONDO:0014165 infores:ubergraph knowledge_assertion manual_agent HGNC:14938 MONDO:0014165 NCBIGene:79728 biolink:gene_associated_with_condition MONDO:0012565 infores:ubergraph knowledge_assertion manual_agent HGNC:26144 MONDO:0012565 NCBIGene:64840 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64840 MONDO:0700096 No evidence available 0 true NCBIGene:10008 biolink:gene_associated_with_condition MONDO:0013145 infores:ubergraph knowledge_assertion manual_agent HGNC:6243 MONDO:0013145 NCBIGene:3265 biolink:gene_associated_with_condition MONDO:0009026 infores:clingen HGNC:5173 MONDO:0009026 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4868 biolink:gene_associated_with_condition MONDO:0009732 infores:ubergraph knowledge_assertion manual_agent HGNC:7908 MONDO:0009732 NCBIGene:472 biolink:gene_associated_with_condition MONDO:0700270 infores:ubergraph knowledge_assertion manual_agent HGNC:795 MONDO:0700270 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0007906 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0007906 NCBIGene:25861 biolink:gene_associated_with_condition MONDO:0011767 infores:clingen NCBIGene:25861 MONDO:0011767 Gene associated with autosomal recessive phenotype 30 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0014227 infores:clingen HGNC:3356 MONDO:0014227 Limited 2022-06-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed97faaf-d5ce-4da2-8367-b6fb51a57cbf-2022-06-17T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:11141 biolink:gene_associated_with_condition MONDO:0010256 infores:ubergraph knowledge_assertion manual_agent HGNC:5996 MONDO:0010256 NCBIGene:5130 biolink:gene_associated_with_condition MONDO:0958023 infores:ubergraph knowledge_assertion manual_agent HGNC:8754 MONDO:0958023 NCBIGene:6773 biolink:gene_associated_with_condition MONDO:0014715 infores:ubergraph knowledge_assertion manual_agent HGNC:11363 MONDO:0014715 NCBIGene:11019 biolink:gene_associated_with_condition MONDO:0013762 infores:ubergraph knowledge_assertion manual_agent HGNC:16429 MONDO:0013762 NCBIGene:56616 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:21528 MONDO:0019497 Limited 2021-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5903c3b-b2d7-4c14-b196-37533187d807-2021-09-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9320 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:12306 MONDO:0100038 Definitive 2022-04-05T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_011b99b3-0d17-4615-800e-36f4bacd8117-2022-04-05T060000.000Z AD Autosomal Dominant 0000006 NCBIGene:2898 biolink:gene_associated_with_condition MONDO:0012614 infores:ubergraph knowledge_assertion manual_agent HGNC:4580 MONDO:0012614 NCBIGene:55605 biolink:gene_associated_with_condition MONDO:0007614 infores:clingen HGNC:19349 MONDO:0007614 Definitive 2021-10-26T14:48:54.679Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc32bbc2-de76-42d0-8a6b-b3c3393ddd30-2021-10-26T144854.679Z AD Autosomal Dominant 0000006 NCBIGene:51135 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51135 MONDO:0700096 No evidence available 0 true NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6262 MONDO:0700096 No evidence available 0 true NCBIGene:6609 biolink:gene_associated_with_condition MONDO:0100464 infores:clingen HGNC:11120 MONDO:0100464 Definitive 2022-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccda7e6a-1cd6-45e2-971f-528a13589e1c-2022-07-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51284 biolink:gene_associated_with_condition MONDO:0026767 infores:ubergraph knowledge_assertion manual_agent HGNC:15631 MONDO:0026767 NCBIGene:9739 biolink:gene_associated_with_condition MONDO:0030005 infores:ubergraph knowledge_assertion manual_agent HGNC:29010 MONDO:0030005 NCBIGene:5337 biolink:gene_associated_with_condition MONDO:0008913 infores:ubergraph knowledge_assertion manual_agent HGNC:9067 MONDO:0008913 NCBIGene:8940 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8940 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:55367 biolink:gene_associated_with_condition MONDO:0030785 infores:ubergraph knowledge_assertion manual_agent HGNC:16491 MONDO:0030785 NCBIGene:410 biolink:gene_associated_with_condition MONDO:0009591 infores:ubergraph knowledge_assertion manual_agent HGNC:713 MONDO:0009591 NCBIGene:801 biolink:gene_associated_with_condition MONDO:0013966 infores:ubergraph knowledge_assertion manual_agent HGNC:1442 MONDO:0013966 NCBIGene:2693 biolink:gene_associated_with_condition MONDO:0014403 infores:ubergraph knowledge_assertion manual_agent HGNC:4267 MONDO:0014403 NCBIGene:729920 biolink:gene_associated_with_condition MONDO:0100530 infores:ubergraph knowledge_assertion manual_agent HGNC:37276 MONDO:0100530 NCBIGene:64241 biolink:gene_associated_with_condition MONDO:0008863 infores:clingen NCBIGene:64241 MONDO:0008863 Definitive 2020-07-14T20:28:06.911Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:8831 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:8831 MONDO:0100038 Definitive 2019-04-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b19f2a30-5538-4339-9018-150fd1bcd9c8-2019-04-02T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22954 biolink:gene_associated_with_condition MONDO:0014439 infores:clingen HGNC:16380 MONDO:0014439 Limited 2024-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4140e7c5-ac53-4748-b20f-07d3877ea0d6-2024-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5892 biolink:gene_associated_with_condition MONDO:0013669 infores:ubergraph knowledge_assertion manual_agent HGNC:9823 MONDO:0013669 NCBIGene:57688 biolink:gene_associated_with_condition MONDO:0011359 infores:clingen HGNC:29316 MONDO:0011359 Definitive 2023-08-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed4457bf-9200-46b3-8e3d-ac09e9d5be9f-2023-08-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5625 biolink:gene_associated_with_condition MONDO:0010943 infores:ubergraph knowledge_assertion manual_agent HGNC:9453 MONDO:0010943 NCBIGene:617 biolink:gene_associated_with_condition MONDO:0007415 infores:ubergraph knowledge_assertion manual_agent HGNC:1020 MONDO:0007415 NCBIGene:9325 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9325 MONDO:0700096 No evidence available 0 true NCBIGene:114548 biolink:gene_associated_with_condition MONDO:0007849 infores:ubergraph knowledge_assertion manual_agent HGNC:16400 MONDO:0007849 NCBIGene:57192 biolink:gene_associated_with_condition MONDO:0009653 infores:clingen HGNC:13356 MONDO:0009653 Definitive 2022-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baf3301d-214e-46b5-8053-5217b52fe6c2-2022-09-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79633 biolink:gene_associated_with_condition MONDO:0014454 infores:ubergraph knowledge_assertion manual_agent HGNC:23109 MONDO:0014454 NCBIGene:4644 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4644 MONDO:0700096 No evidence available 0 true NCBIGene:51004 biolink:gene_associated_with_condition MONDO:0013836 infores:ubergraph knowledge_assertion manual_agent HGNC:20233 MONDO:0013836 NCBIGene:4358 biolink:gene_associated_with_condition MONDO:0032728 infores:ubergraph knowledge_assertion manual_agent HGNC:7224 MONDO:0032728 NCBIGene:27247 biolink:gene_associated_with_condition MONDO:0011582 infores:ubergraph knowledge_assertion manual_agent HGNC:16287 MONDO:0011582 NCBIGene:3394 biolink:gene_associated_with_condition MONDO:0009194 infores:ubergraph knowledge_assertion manual_agent HGNC:5358 MONDO:0009194 NCBIGene:6426 biolink:gene_associated_with_condition MONDO:0957583 infores:clingen NCBIGene:6426 MONDO:0957583 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8541 biolink:gene_associated_with_condition MONDO:1040014 infores:ubergraph knowledge_assertion manual_agent HGNC:9247 MONDO:1040014 NCBIGene:7468 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:7468 MONDO:0000508 Definitive 2021-06-02T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de3c113b-0a7d-454d-88e3-faf4f1fdb9ac-2021-06-02T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54463 biolink:gene_associated_with_condition MONDO:0013142 infores:clingen NCBIGene:54463 MONDO:0013142 Gene associated with autosomal recessive phenotype 30 NCBIGene:653509 biolink:gene_associated_with_condition MONDO:0030608 infores:ubergraph knowledge_assertion manual_agent HGNC:10798 MONDO:0030608 NCBIGene:5925 biolink:gene_associated_with_condition MONDO:0018160 infores:ubergraph knowledge_assertion manual_agent HGNC:9884 MONDO:0018160 NCBIGene:57728 biolink:gene_associated_with_condition MONDO:0013717 infores:ubergraph knowledge_assertion manual_agent HGNC:18340 MONDO:0013717 NCBIGene:84231 biolink:gene_associated_with_condition MONDO:0032572 infores:ubergraph knowledge_assertion manual_agent HGNC:20456 MONDO:0032572 NCBIGene:9719 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9719 MONDO:0700096 No evidence available 0 true NCBIGene:400569 biolink:gene_associated_with_condition MONDO:0957225 infores:ubergraph knowledge_assertion manual_agent HGNC:32687 MONDO:0957225 NCBIGene:652 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:652 MONDO:0700096 No evidence available 0 true NCBIGene:2158 biolink:gene_associated_with_condition MONDO:0010604 infores:clingen NCBIGene:2158 MONDO:0010604 Definitive 2019-05-22T19:02:26.728Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d56d08d-48d0-4523-b433-dbd44c5b9e45-2019-05-22T190226.728Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4508 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7414 MONDO:0009723 Definitive 2021-06-28T14:53:50.161Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e492464b-cb98-4bf4-a12e-169b59576b04-2021-06-28T145350.161Z MT Mitochondrial 0001427 NCBIGene:2542 biolink:gene_associated_with_condition MONDO:0030437 infores:ubergraph knowledge_assertion manual_agent HGNC:4061 MONDO:0030437 NCBIGene:55081 biolink:gene_associated_with_condition MONDO:0054770 infores:ubergraph knowledge_assertion manual_agent HGNC:17367 MONDO:0054770 NCBIGene:2108 biolink:gene_associated_with_condition MONDO:0009282 infores:clingen HGNC:3481 MONDO:0009282 Definitive 2018-05-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d6848e7-6e9e-4545-9f97-69480face058-2018-05-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7466 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4569 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7492 MONDO:0044970 Definitive 2022-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56195896-f357-403b-b7db-118314bcec94-2022-12-19T170000.000Z MT Mitochondrial 0001427 NCBIGene:131405 biolink:gene_associated_with_condition MONDO:0032862 infores:ubergraph knowledge_assertion manual_agent HGNC:32669 MONDO:0032862 NCBIGene:2584 biolink:gene_associated_with_condition MONDO:0009255 infores:ubergraph knowledge_assertion manual_agent HGNC:4118 MONDO:0009255 NCBIGene:8831 biolink:gene_associated_with_condition MONDO:0012960 infores:ubergraph knowledge_assertion manual_agent HGNC:11497 MONDO:0012960 NCBIGene:55654 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55654 MONDO:0700096 No evidence available 0 true NCBIGene:1583 biolink:gene_associated_with_condition MONDO:0013400 infores:ubergraph knowledge_assertion manual_agent HGNC:2590 MONDO:0013400 NCBIGene:84295 biolink:gene_associated_with_condition MONDO:0010537 infores:ubergraph knowledge_assertion manual_agent HGNC:18145 MONDO:0010537 NCBIGene:84317 biolink:gene_associated_with_condition MONDO:0014789 infores:clingen HGNC:28178 MONDO:0014789 Moderate 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a15c4c38-77c7-4bad-95f8-b2d2a163d05a-2024-09-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4723 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:4723 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:7700 biolink:gene_associated_with_condition MONDO:0014090 infores:clingen NCBIGene:7700 MONDO:0014090 Gene associated with autosomal recessive phenotype 30 NCBIGene:128178 biolink:gene_associated_with_condition MONDO:0013983 infores:ubergraph knowledge_assertion manual_agent HGNC:14341 MONDO:0013983 NCBIGene:861 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:861 MONDO:0700096 No evidence available 0 true NCBIGene:130589 biolink:gene_associated_with_condition MONDO:0030105 infores:ubergraph knowledge_assertion manual_agent HGNC:24063 MONDO:0030105 NCBIGene:4952 biolink:gene_associated_with_condition MONDO:0010645 infores:clingen NCBIGene:4952 MONDO:0010645 Definitive 2020-07-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5140c756-fac0-435b-8f59-a5d4a0b0adb3-2020-07-10T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5428 biolink:gene_associated_with_condition MONDO:0013350 infores:ubergraph knowledge_assertion manual_agent HGNC:9179 MONDO:0013350 NCBIGene:4688 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4688 MONDO:0700096 No evidence available 0 true NCBIGene:4983 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4983 MONDO:0700096 No evidence available 0 true NCBIGene:7546 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7546 MONDO:0700096 No evidence available 0 true NCBIGene:64478 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64478 MONDO:0700096 No evidence available 0 true NCBIGene:1967 biolink:gene_associated_with_condition MONDO:0020507 infores:clingen HGNC:3257 MONDO:0020507 Definitive 2025-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35e2ff63-0a4f-4425-9330-cc70fbe9954d-2025-02-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4534 biolink:gene_associated_with_condition MONDO:0010683 infores:ubergraph knowledge_assertion manual_agent HGNC:7448 MONDO:0010683 NCBIGene:9295 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:9295 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:2301 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:3808 MONDO:0019625 Moderate 2016-06-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8261 AD Autosomal Dominant 0000006 NCBIGene:1188 biolink:gene_associated_with_condition MONDO:0011822 infores:ubergraph knowledge_assertion manual_agent HGNC:2027 MONDO:0011822 NCBIGene:1406 biolink:gene_associated_with_condition MONDO:1040064 infores:ubergraph knowledge_assertion manual_agent HGNC:2383 MONDO:1040064 NCBIGene:9256 biolink:gene_associated_with_condition MONDO:0957539 infores:ubergraph knowledge_assertion manual_agent HGNC:16831 MONDO:0957539 NCBIGene:86 biolink:gene_associated_with_condition MONDO:0700121 infores:ubergraph knowledge_assertion manual_agent HGNC:24124 MONDO:0700121 NCBIGene:79048 biolink:gene_associated_with_condition MONDO:0800046 infores:ubergraph knowledge_assertion manual_agent HGNC:30972 MONDO:0800046 NCBIGene:6091 biolink:gene_associated_with_condition MONDO:0957208 infores:ubergraph knowledge_assertion manual_agent HGNC:10249 MONDO:0957208 NCBIGene:5631 biolink:gene_associated_with_condition MONDO:0010395 infores:clingen HGNC:9462 MONDO:0010395 Limited 2020-02-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76dc3f8d-e1c9-4506-9381-d2b5ab3df300-2020-02-14T170000.000Z XL X-linked 0001417 NCBIGene:55294 biolink:gene_associated_with_condition MONDO:0859280 infores:ubergraph knowledge_assertion manual_agent HGNC:16712 MONDO:0859280 NCBIGene:123263 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:123263 MONDO:0700096 No evidence available 0 true NCBIGene:54084 biolink:gene_associated_with_condition MONDO:0032584 infores:ubergraph knowledge_assertion manual_agent HGNC:1268 MONDO:0032584 NCBIGene:5298 biolink:gene_associated_with_condition MONDO:0859525 infores:ubergraph knowledge_assertion manual_agent HGNC:8984 MONDO:0859525 NCBIGene:10486 biolink:gene_associated_with_condition MONDO:0957545 infores:ubergraph knowledge_assertion manual_agent HGNC:20039 MONDO:0957545 NCBIGene:6572 biolink:gene_associated_with_condition MONDO:0014983 infores:ubergraph knowledge_assertion manual_agent HGNC:10936 MONDO:0014983 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0006573 infores:clingen HGNC:1527 MONDO:0006573 Limited 2025-07-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7278df5e-7003-4ff8-bcb6-f043cf2fcb60-2025-07-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3187 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:5041 MONDO:0000508 Definitive 2024-10-16T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2118bc4-a101-4c93-b7b7-72c202a73e20-2024-10-16T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:2706 biolink:gene_associated_with_condition MONDO:0011103 infores:ubergraph knowledge_assertion manual_agent HGNC:4284 MONDO:0011103 NCBIGene:23469 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23469 MONDO:0700096 No evidence available 0 true NCBIGene:4729 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7717 MONDO:0009723 Limited 2019-11-25T14:57:48.766Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1266aed1-8c25-4b28-bf8a-a0e16d9b3da9-2019-11-25T145748.766Z AR Autosomal Recessive 0000007 NCBIGene:64175 biolink:gene_associated_with_condition MONDO:0012581 infores:ubergraph knowledge_assertion manual_agent HGNC:19316 MONDO:0012581 NCBIGene:1298 biolink:gene_associated_with_condition MONDO:0010844 infores:ubergraph knowledge_assertion manual_agent HGNC:2218 MONDO:0010844 NCBIGene:5250 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10989 MONDO:0044970 Moderate 2023-07-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0fc01e9-4239-45e6-8680-9b8566283337-2023-07-24T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:10558 biolink:gene_associated_with_condition MONDO:0859529 infores:ubergraph knowledge_assertion manual_agent HGNC:11277 MONDO:0859529 NCBIGene:11146 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11146 MONDO:0700096 No evidence available 0 true NCBIGene:23287 biolink:gene_associated_with_condition MONDO:0032650 infores:ubergraph knowledge_assertion manual_agent HGNC:17258 MONDO:0032650 NCBIGene:54585 biolink:gene_associated_with_condition MONDO:1040046 infores:clingen HGNC:6741 MONDO:1040046 Definitive 2024-01-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e352868c-b5d8-451d-89ef-61a147ea7b4f-2024-01-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4292 biolink:gene_associated_with_condition MONDO:0012249 infores:ubergraph knowledge_assertion manual_agent HGNC:7127 MONDO:0012249 NCBIGene:1654 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1654 MONDO:0700096 No evidence available 0 true NCBIGene:4653 biolink:gene_associated_with_condition MONDO:0005338 infores:clingen HGNC:7610 MONDO:0005338 Definitive 2022-02-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe5896cf-ec59-431e-bf95-02de61729269-2022-02-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:33 biolink:gene_associated_with_condition MONDO:0020531 infores:clingen HGNC:88 MONDO:0020531 Disputed 2024-04-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d95637bf-c628-4d23-a0d5-656db55a09a4-2024-04-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:440 biolink:gene_associated_with_condition MONDO:0014258 infores:ubergraph knowledge_assertion manual_agent HGNC:753 MONDO:0014258 NCBIGene:50939 biolink:gene_associated_with_condition MONDO:0700241 infores:clingen HGNC:18362 MONDO:0700241 Definitive 2023-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66bf5526-6f74-473b-b2f9-3e3270164bc8-2023-08-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84163 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84163 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9131 MONDO:0700096 No evidence available 0 true NCBIGene:4853 biolink:gene_associated_with_condition MONDO:0012439 infores:clingen NCBIGene:4853 MONDO:0012439 true No evidence available 0 NCBIGene:5308 biolink:gene_associated_with_condition MONDO:0008387 infores:ubergraph knowledge_assertion manual_agent HGNC:9005 MONDO:0008387 NCBIGene:81614 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:81614 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3798 biolink:gene_associated_with_condition MONDO:0060670 infores:ubergraph knowledge_assertion manual_agent HGNC:6323 MONDO:0060670 NCBIGene:4574 biolink:gene_associated_with_condition MONDO:0800037 infores:ubergraph knowledge_assertion manual_agent HGNC:7497 MONDO:0800037 NCBIGene:5281 biolink:gene_associated_with_condition MONDO:0859161 infores:ubergraph knowledge_assertion manual_agent HGNC:8962 MONDO:0859161 NCBIGene:186 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:338 MONDO:0100148 Disputed 2020-06-01T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7cfa2a0-e6a7-49b8-a773-b32a1dfbcd57-2020-06-01T220000.000Z XL X-linked 0001417 NCBIGene:1000 biolink:gene_associated_with_condition MONDO:0030065 infores:ubergraph knowledge_assertion manual_agent HGNC:1759 MONDO:0030065 NCBIGene:5078 biolink:gene_associated_with_condition MONDO:0100180 infores:ubergraph knowledge_assertion manual_agent HGNC:8618 MONDO:0100180 NCBIGene:4790 biolink:gene_associated_with_condition MONDO:0014697 infores:ubergraph knowledge_assertion manual_agent HGNC:7794 MONDO:0014697 NCBIGene:117144 biolink:gene_associated_with_condition MONDO:0013070 infores:ubergraph knowledge_assertion manual_agent HGNC:17116 MONDO:0013070 NCBIGene:8493 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:8493 MONDO:0000508 Definitive 2022-02-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a93ec2cb-1632-4439-bdd9-4bcae1bb779f-2022-02-15T170000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:51079 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:17194 MONDO:0009723 Moderate 2021-01-21T00:54:11.435Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bc56951-c454-4e79-95f3-7ffda20482b7-2021-01-21T005411.435Z AR Autosomal Recessive 0000007 NCBIGene:51021 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14048 MONDO:0044970 Limited 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bc34eb8-8f60-4fad-892b-11929760cae6-2022-06-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5624 biolink:gene_associated_with_condition MONDO:0012860 infores:ubergraph knowledge_assertion manual_agent HGNC:9451 MONDO:0012860 NCBIGene:11280 biolink:gene_associated_with_condition MONDO:0014244 infores:ubergraph knowledge_assertion manual_agent HGNC:10583 MONDO:0014244 NCBIGene:4868 biolink:gene_associated_with_condition MONDO:0009732 infores:clingen NCBIGene:4868 MONDO:0009732 Definitive 2022-01-10T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b474ea36-3ba2-4a2e-b6f6-eaa0f05c05b8-2022-01-10T013000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2203 biolink:gene_associated_with_condition MONDO:0009251 infores:clingen NCBIGene:2203 MONDO:0009251 Gene associated with autosomal recessive phenotype 30 NCBIGene:79792 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79792 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:86 biolink:gene_associated_with_condition MONDO:0700121 infores:clingen HGNC:24124 MONDO:0700121 Moderate 2023-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9278e3c0-9174-4aed-8c13-b34618e88825-2023-07-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0970994 infores:ubergraph knowledge_assertion manual_agent HGNC:9175 MONDO:0970994 NCBIGene:28514 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:28514 MONDO:0700096 No evidence available 0 true NCBIGene:1666 biolink:gene_associated_with_condition MONDO:0014464 infores:clingen HGNC:2753 MONDO:0014464 No Known Disease Relationship 2021-01-25T19:49:21.121Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d25dfe8-8d0b-4b45-b04c-b315ebdceaaa-2021-01-25T194921.121Z UD Undetermined Mode of Inheritance NCBIGene:112755 biolink:gene_associated_with_condition MONDO:0018214 infores:clingen HGNC:18539 MONDO:0018214 Definitive 2023-06-20T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b9a9e0e-b3d5-4340-8853-0ae6e7c390fd-2023-06-20T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:57057 biolink:gene_associated_with_condition MONDO:0012654 infores:ubergraph knowledge_assertion manual_agent HGNC:11598 MONDO:0012654 NCBIGene:121391 biolink:gene_associated_with_condition MONDO:0013975 infores:ubergraph knowledge_assertion manual_agent HGNC:28929 MONDO:0013975 NCBIGene:26060 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:24035 MONDO:0015967 Limited 2021-12-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e2bc680-f1d4-4b65-baaa-22b4ff22b56e-2021-12-15T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3858 biolink:gene_associated_with_condition MONDO:0007809 infores:ubergraph knowledge_assertion manual_agent HGNC:6413 MONDO:0007809 NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0013749 infores:ubergraph knowledge_assertion manual_agent HGNC:2488 MONDO:0013749 NCBIGene:83959 biolink:gene_associated_with_condition MONDO:0009019 infores:ubergraph knowledge_assertion manual_agent HGNC:16438 MONDO:0009019 NCBIGene:7290 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7290 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9451 biolink:gene_associated_with_condition MONDO:0009192 infores:clingen NCBIGene:9451 MONDO:0009192 Gene associated with autosomal recessive phenotype 30 NCBIGene:3075 biolink:gene_associated_with_condition MONDO:0007472 infores:ubergraph knowledge_assertion manual_agent HGNC:4883 MONDO:0007472 NCBIGene:57688 biolink:gene_associated_with_condition MONDO:0011359 infores:ubergraph knowledge_assertion manual_agent HGNC:29316 MONDO:0011359 NCBIGene:148789 biolink:gene_associated_with_condition MONDO:0014071 infores:clingen NCBIGene:148789 MONDO:0014071 Gene associated with autosomal recessive phenotype 30 NCBIGene:9258 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9258 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:25836 biolink:gene_associated_with_condition MONDO:0016033 infores:clingen HGNC:28862 MONDO:0016033 Definitive 2025-08-11T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4ecc430-6562-4d58-9118-c5253dc95ae9-2025-08-11T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:3937 biolink:gene_associated_with_condition MONDO:0030302 infores:clingen HGNC:6529 MONDO:0030302 Definitive 2024-02-15T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f14a481-2d4c-4cd0-a930-03db5bff6b9b-2024-02-15T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:10491 biolink:gene_associated_with_condition MONDO:0012536 infores:clingen NCBIGene:10491 MONDO:0012536 Gene associated with autosomal recessive phenotype 30 NCBIGene:7155 biolink:gene_associated_with_condition MONDO:0012243 infores:ubergraph knowledge_assertion manual_agent HGNC:11990 MONDO:0012243 NCBIGene:1947 biolink:gene_associated_with_condition MONDO:0010570 infores:ubergraph knowledge_assertion manual_agent HGNC:3226 MONDO:0010570 NCBIGene:3735 biolink:gene_associated_with_condition MONDO:0013338 infores:ubergraph knowledge_assertion manual_agent HGNC:6215 MONDO:0013338 NCBIGene:55869 biolink:gene_associated_with_condition MONDO:0010471 infores:ubergraph knowledge_assertion manual_agent HGNC:13315 MONDO:0010471 NCBIGene:773 biolink:gene_associated_with_condition MONDO:0007163 infores:clingen NCBIGene:773 MONDO:0007163 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29119 biolink:gene_associated_with_condition MONDO:0000908 infores:ubergraph knowledge_assertion manual_agent HGNC:2511 MONDO:0000908 NCBIGene:5873 biolink:gene_associated_with_condition MONDO:0011872 infores:clingen NCBIGene:5873 MONDO:0011872 Definitive 2023-10-31T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85b7d8d2-1d22-44f3-9b24-580b42d69300-2023-10-31T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3914 biolink:gene_associated_with_condition MONDO:0009180 infores:ubergraph knowledge_assertion manual_agent HGNC:6490 MONDO:0009180 NCBIGene:1785 biolink:gene_associated_with_condition MONDO:0014149 infores:ubergraph knowledge_assertion manual_agent HGNC:2974 MONDO:0014149 NCBIGene:55186 biolink:gene_associated_with_condition MONDO:0859362 infores:ubergraph knowledge_assertion manual_agent HGNC:25554 MONDO:0859362 NCBIGene:3703 biolink:gene_associated_with_condition MONDO:0014270 infores:ubergraph knowledge_assertion manual_agent HGNC:6172 MONDO:0014270 NCBIGene:4920 biolink:gene_associated_with_condition MONDO:0007220 infores:ubergraph knowledge_assertion manual_agent HGNC:10257 MONDO:0007220 NCBIGene:5573 biolink:gene_associated_with_condition MONDO:0012509 infores:ubergraph knowledge_assertion manual_agent HGNC:9388 MONDO:0012509 NCBIGene:4437 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:7326 MONDO:0005835 Disputed 2024-08-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9216399-2779-43fa-8b95-b10020753f43-2024-08-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3764 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:6269 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10155 AD Autosomal Dominant 0000006 NCBIGene:2796 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2796 MONDO:0700096 No evidence available 0 true NCBIGene:1740 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:1740 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:3745 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:6231 MONDO:0100038 Definitive 2019-04-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_986348ad-e8bb-4391-9478-7834a19415cb-2019-04-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6445 biolink:gene_associated_with_condition MONDO:0009677 infores:clingen NCBIGene:6445 MONDO:0009677 Gene associated with autosomal recessive phenotype 30 NCBIGene:3691 biolink:gene_associated_with_condition MONDO:0030768 infores:ubergraph knowledge_assertion manual_agent HGNC:6158 MONDO:0030768 NCBIGene:83548 biolink:gene_associated_with_condition MONDO:0015286 infores:clingen HGNC:18619 MONDO:0015286 Limited 2024-09-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d2120a6-1287-4cba-9f94-f071f0b1abd4-2024-09-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:817 biolink:gene_associated_with_condition MONDO:1040008 infores:ubergraph knowledge_assertion manual_agent HGNC:1462 MONDO:1040008 NCBIGene:2188 biolink:gene_associated_with_condition MONDO:0011325 infores:ubergraph knowledge_assertion manual_agent HGNC:3587 MONDO:0011325 NCBIGene:5621 biolink:gene_associated_with_condition MONDO:0010808 infores:ubergraph knowledge_assertion manual_agent HGNC:9449 MONDO:0010808 NCBIGene:9321 biolink:gene_associated_with_condition MONDO:1040009 infores:clingen HGNC:12305 MONDO:1040009 Definitive 2024-09-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6867387e-63e6-43f1-83e4-e988db17b661-2024-09-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3909 biolink:gene_associated_with_condition MONDO:0017612 infores:clingen NCBIGene:3909 MONDO:0017612 Gene associated with autosomal recessive phenotype 30 NCBIGene:122481 biolink:gene_associated_with_condition MONDO:0054731 infores:ubergraph knowledge_assertion manual_agent HGNC:20091 MONDO:0054731 NCBIGene:6523 biolink:gene_associated_with_condition MONDO:0011731 infores:clingen NCBIGene:6523 MONDO:0011731 Gene associated with autosomal recessive phenotype 30 NCBIGene:3690 biolink:gene_associated_with_condition MONDO:0031009 infores:ubergraph knowledge_assertion manual_agent HGNC:6156 MONDO:0031009 NCBIGene:134701 biolink:gene_associated_with_condition MONDO:0014694 infores:ubergraph knowledge_assertion manual_agent HGNC:21390 MONDO:0014694 NCBIGene:9083 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9083 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4634 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4634 MONDO:0700096 No evidence available 0 true NCBIGene:2182 biolink:gene_associated_with_condition MONDO:0010313 infores:ubergraph knowledge_assertion manual_agent HGNC:3571 MONDO:0010313 NCBIGene:8929 biolink:gene_associated_with_condition MONDO:0700041 infores:ubergraph knowledge_assertion manual_agent HGNC:9143 MONDO:0700041 NCBIGene:10309 biolink:gene_associated_with_condition MONDO:0014378 infores:ubergraph knowledge_assertion manual_agent HGNC:18576 MONDO:0014378 NCBIGene:4072 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:11529 MONDO:0016419 Refuted 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efe1b152-d818-49bd-9f6f-cebe944b3404-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:1387 biolink:gene_associated_with_condition MONDO:0019188 infores:clingen HGNC:2348 MONDO:0019188 Definitive 2018-04-27T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d16df64b-26ed-4f1c-b8dc-f27be773b102-2018-04-27T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:53834 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:53834 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7097 biolink:gene_associated_with_condition MONDO:0009518 infores:ubergraph knowledge_assertion manual_agent HGNC:11848 MONDO:0009518 NCBIGene:54617 biolink:gene_associated_with_condition MONDO:0011864 infores:clingen HGNC:26956 MONDO:0011864 Disputed 2021-01-22T01:48:26.188Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16d9f828-f6fa-4e35-bc23-c9f1b1138b9a-2021-01-22T014826.188Z AR Autosomal Recessive 0000007 NCBIGene:4784 biolink:gene_associated_with_condition MONDO:0011244 infores:ubergraph knowledge_assertion manual_agent HGNC:7788 MONDO:0011244 NCBIGene:171546 biolink:gene_associated_with_condition MONDO:0957308 infores:ubergraph knowledge_assertion manual_agent HGNC:20361 MONDO:0957308 NCBIGene:283209 biolink:gene_associated_with_condition MONDO:0859347 infores:ubergraph knowledge_assertion manual_agent HGNC:20898 MONDO:0859347 NCBIGene:27086 biolink:gene_associated_with_condition MONDO:0013352 infores:clingen NCBIGene:27086 MONDO:0013352 Definitive 2019-05-09T16:27:56.956Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db1c240c-7ffb-4a95-92ad-da9e8af2adc6-2019-05-09T162756.956Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:998 biolink:gene_associated_with_condition MONDO:0014757 infores:ubergraph knowledge_assertion manual_agent HGNC:1736 MONDO:0014757 NCBIGene:1828 biolink:gene_associated_with_condition MONDO:0014218 infores:ubergraph knowledge_assertion manual_agent HGNC:3048 MONDO:0014218 NCBIGene:157570 biolink:gene_associated_with_condition MONDO:0008992 infores:ubergraph knowledge_assertion manual_agent HGNC:27230 MONDO:0008992 NCBIGene:10463 biolink:gene_associated_with_condition MONDO:0044726 infores:clingen HGNC:1329 MONDO:0044726 Definitive 2025-03-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f068a626-3d4b-47dd-94f9-d7ac8430274f-2025-03-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:374654 biolink:gene_associated_with_condition MONDO:0800463 infores:ubergraph knowledge_assertion manual_agent HGNC:30497 MONDO:0800463 NCBIGene:708 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:1243 MONDO:0044970 Definitive 2022-08-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e98e3a8-77f2-4011-96cb-6bcc54f36a8b-2022-08-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51135 biolink:gene_associated_with_condition MONDO:0011888 infores:clingen NCBIGene:51135 MONDO:0011888 Gene associated with autosomal recessive phenotype 30 NCBIGene:9790 biolink:gene_associated_with_condition MONDO:0007145 infores:ubergraph knowledge_assertion manual_agent HGNC:23505 MONDO:0007145 NCBIGene:57094 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57094 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4771 biolink:gene_associated_with_condition MONDO:0007039 infores:ubergraph knowledge_assertion manual_agent HGNC:7773 MONDO:0007039 NCBIGene:367 biolink:gene_associated_with_condition MONDO:0019154 infores:ubergraph knowledge_assertion manual_agent HGNC:644 MONDO:0019154 NCBIGene:23067 biolink:gene_associated_with_condition MONDO:0033559 infores:ubergraph knowledge_assertion manual_agent HGNC:29187 MONDO:0033559 NCBIGene:79087 biolink:gene_associated_with_condition MONDO:0011783 infores:ubergraph knowledge_assertion manual_agent HGNC:19358 MONDO:0011783 NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0008198 infores:ubergraph knowledge_assertion manual_agent HGNC:7392 MONDO:0008198 NCBIGene:147183 biolink:gene_associated_with_condition MONDO:0014765 infores:ubergraph knowledge_assertion manual_agent HGNC:30839 MONDO:0014765 NCBIGene:8048 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:2472 MONDO:0005045 Definitive 2023-08-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_012b9b15-798a-46e2-8164-61a829ceeda1-2023-08-09T160000.000Z SD Semidominant 0032113 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:11947 MONDO:0005021 Strong 2025-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_668087ea-0d2f-42c2-a291-f73400d34023-2025-04-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2300 biolink:gene_associated_with_condition MONDO:0957928 infores:ubergraph knowledge_assertion manual_agent HGNC:3817 MONDO:0957928 NCBIGene:8910 biolink:gene_associated_with_condition MONDO:0008044 infores:ubergraph knowledge_assertion manual_agent HGNC:10808 MONDO:0008044 NCBIGene:83959 biolink:gene_associated_with_condition MONDO:0013204 infores:ubergraph knowledge_assertion manual_agent HGNC:16438 MONDO:0013204 NCBIGene:4047 biolink:gene_associated_with_condition MONDO:0030009 infores:ubergraph knowledge_assertion manual_agent HGNC:6708 MONDO:0030009 NCBIGene:2312 biolink:gene_associated_with_condition MONDO:0015947 infores:clingen NCBIGene:2312 MONDO:0015947 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79087 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79087 MONDO:0700096 No evidence available 0 true NCBIGene:51360 biolink:gene_associated_with_condition MONDO:0100213 infores:ubergraph knowledge_assertion manual_agent HGNC:15455 MONDO:0100213 NCBIGene:116442 biolink:gene_associated_with_condition MONDO:0010289 infores:clingen NCBIGene:116442 MONDO:0010289 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1307 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1307 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:10479 biolink:gene_associated_with_condition MONDO:0976236 infores:ubergraph knowledge_assertion manual_agent HGNC:11079 MONDO:0976236 NCBIGene:183 biolink:gene_associated_with_condition MONDO:0009970 infores:clingen NCBIGene:183 MONDO:0009970 Gene associated with autosomal recessive phenotype 30 NCBIGene:2071 biolink:gene_associated_with_condition MONDO:0014615 infores:ubergraph knowledge_assertion manual_agent HGNC:3435 MONDO:0014615 NCBIGene:27349 biolink:gene_associated_with_condition MONDO:0957935 infores:clingen HGNC:29622 MONDO:0957935 Limited 2024-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_427c818a-1705-4013-a5ba-d977540535d5-2024-05-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:124590 biolink:gene_associated_with_condition MONDO:0010168 infores:clingen HGNC:16356 MONDO:0010168 Definitive 2017-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5660 AR Autosomal Recessive 0000007 NCBIGene:440193 biolink:gene_associated_with_condition MONDO:0014475 infores:ubergraph knowledge_assertion manual_agent HGNC:19967 MONDO:0014475 NCBIGene:83696 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83696 MONDO:0700096 No evidence available 0 true NCBIGene:2956 biolink:gene_associated_with_condition MONDO:0030841 infores:ubergraph knowledge_assertion manual_agent HGNC:7329 MONDO:0030841 NCBIGene:2908 biolink:gene_associated_with_condition MONDO:0014421 infores:ubergraph knowledge_assertion manual_agent HGNC:7978 MONDO:0014421 NCBIGene:11200 biolink:gene_associated_with_condition MONDO:0700271 infores:ubergraph knowledge_assertion manual_agent HGNC:16627 MONDO:0700271 NCBIGene:10058 biolink:gene_associated_with_condition MONDO:0014169 infores:clingen HGNC:47 MONDO:0014169 Moderate 2024-04-26T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93bbbc0a-5f6f-4d80-b560-3265d7b89ed3-2024-04-26T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:7137 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:11947 MONDO:0016587 No Known Disease Relationship 2019-07-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21c990ca-e407-4a21-a3e2-237700a75d43-2019-07-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2132 biolink:gene_associated_with_condition MONDO:0007586 infores:clingen NCBIGene:2132 MONDO:0007586 Definitive 2018-12-21T15:31:26.680Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e6829ce-3e0b-44c5-a214-756f33b1e948-2018-12-21T153126.680Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:221421 biolink:gene_associated_with_condition MONDO:0012979 infores:ubergraph knowledge_assertion manual_agent HGNC:21057 MONDO:0012979 NCBIGene:1910 biolink:gene_associated_with_condition MONDO:0010192 infores:clingen NCBIGene:1910 MONDO:0010192 Limited 2018-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73ee9727-60c1-40fd-830f-08c2b513d2ee-2018-05-08T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:2120 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2120 MONDO:0700096 No evidence available 0 true NCBIGene:26123 biolink:gene_associated_with_condition MONDO:0013896 infores:ubergraph knowledge_assertion manual_agent HGNC:24519 MONDO:0013896 NCBIGene:3763 biolink:gene_associated_with_condition MONDO:0013572 infores:ubergraph knowledge_assertion manual_agent HGNC:6267 MONDO:0013572 NCBIGene:546 biolink:gene_associated_with_condition MONDO:0010663 infores:ubergraph knowledge_assertion manual_agent HGNC:886 MONDO:0010663 NCBIGene:10735 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen NCBIGene:10735 MONDO:0020119 Sufficient evidence for dosage pathogenicity 3 NCBIGene:64446 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64446 MONDO:0700096 No evidence available 0 true NCBIGene:29925 biolink:gene_associated_with_condition MONDO:0700084 infores:ubergraph knowledge_assertion manual_agent HGNC:22932 MONDO:0700084 NCBIGene:85378 biolink:gene_associated_with_condition MONDO:0009624 infores:ubergraph knowledge_assertion manual_agent HGNC:18127 MONDO:0009624 NCBIGene:8659 biolink:gene_associated_with_condition MONDO:0009401 infores:clingen NCBIGene:8659 MONDO:0009401 Definitive 2020-10-23T17:16:43.432Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5edc3f72-31e0-47f8-bcec-e3e5b81c97ae-2020-10-23T171643.432Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1890 biolink:gene_associated_with_condition MONDO:0011283 infores:ubergraph knowledge_assertion manual_agent HGNC:3148 MONDO:0011283 NCBIGene:9581 biolink:gene_associated_with_condition MONDO:0044299 infores:ubergraph knowledge_assertion manual_agent HGNC:30228 MONDO:0044299 NCBIGene:23400 biolink:gene_associated_with_condition MONDO:0011706 infores:ubergraph knowledge_assertion manual_agent HGNC:30213 MONDO:0011706 NCBIGene:801 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen HGNC:1442 MONDO:0017990 Moderate 2021-06-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ca1d8df-10fa-48ef-aea4-fb4dc6564dd0-2021-06-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:59 biolink:gene_associated_with_condition MONDO:0013452 infores:ubergraph knowledge_assertion manual_agent HGNC:130 MONDO:0013452 NCBIGene:63894 biolink:gene_associated_with_condition MONDO:0013255 infores:clingen HGNC:20347 MONDO:0013255 Definitive 2020-12-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b87d2443-a34d-41b1-8712-bcd346e3cf52-2020-12-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79718 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:29529 MONDO:0100038 Definitive 2020-07-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8352a921-43c0-4097-9147-2618a4165b57-2020-07-07T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23189 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23189 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9217 biolink:gene_associated_with_condition MONDO:0012077 infores:clingen HGNC:12649 MONDO:0012077 Definitive 2021-12-15T18:30:34.352Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da78d57d-1525-47b3-a649-743186d28eff-2021-12-15T183034.352Z AD Autosomal Dominant 0000006 NCBIGene:1675 biolink:gene_associated_with_condition MONDO:0013487 infores:ubergraph knowledge_assertion manual_agent HGNC:2771 MONDO:0013487 NCBIGene:79947 biolink:gene_associated_with_condition MONDO:1040054 infores:ubergraph knowledge_assertion manual_agent HGNC:20603 MONDO:1040054 NCBIGene:6392 biolink:gene_associated_with_condition MONDO:0008192 infores:ubergraph knowledge_assertion manual_agent HGNC:10683 MONDO:0008192 NCBIGene:3845 biolink:gene_associated_with_condition MONDO:0014112 infores:ubergraph knowledge_assertion manual_agent HGNC:6407 MONDO:0014112 NCBIGene:7125 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:11944 MONDO:0005045 No Known Disease Relationship 2023-04-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1048e478-9177-4086-8bcc-7a2ef8f46894-2023-04-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:375387 biolink:gene_associated_with_condition MONDO:0030033 infores:clingen HGNC:24613 MONDO:0030033 Definitive 2023-09-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf06969-1af8-411f-bc64-7f1563851363-2023-09-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4633 biolink:gene_associated_with_condition MONDO:0012112 infores:ubergraph knowledge_assertion manual_agent HGNC:7583 MONDO:0012112 NCBIGene:79577 biolink:gene_associated_with_condition MONDO:0007768 infores:clingen NCBIGene:79577 MONDO:0007768 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5bd498b-dc86-4f2d-a51b-48baf7017a02-2019-04-19T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:387082 biolink:gene_associated_with_condition MONDO:0010863 infores:ubergraph knowledge_assertion manual_agent HGNC:21181 MONDO:0010863 NCBIGene:5500 biolink:gene_associated_with_condition MONDO:0011899 infores:clingen HGNC:9282 MONDO:0011899 Definitive 2020-04-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16bcb316-090f-420d-9c89-b7642d3dc725-2020-04-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0007232 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0007232 NCBIGene:64093 biolink:gene_associated_with_condition MONDO:0008800 infores:clingen NCBIGene:64093 MONDO:0008800 Gene associated with autosomal recessive phenotype 30 NCBIGene:54903 biolink:gene_associated_with_condition MONDO:1040068 infores:ubergraph knowledge_assertion manual_agent HGNC:7121 MONDO:1040068 NCBIGene:8604 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8604 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9524 biolink:gene_associated_with_condition MONDO:0013528 infores:ubergraph knowledge_assertion manual_agent HGNC:4551 MONDO:0013528 NCBIGene:5257 biolink:gene_associated_with_condition MONDO:0009868 infores:clingen NCBIGene:5257 MONDO:0009868 Definitive 2024-03-17T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bc221ef-fafa-41c6-9b59-fab2b34241c4-2024-03-17T070000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23224 biolink:gene_associated_with_condition MONDO:0013072 infores:ubergraph knowledge_assertion manual_agent HGNC:17084 MONDO:0013072 NCBIGene:51206 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51206 MONDO:0700096 No evidence available 0 true NCBIGene:1000 biolink:gene_associated_with_condition MONDO:0030062 infores:ubergraph knowledge_assertion manual_agent HGNC:1759 MONDO:0030062 NCBIGene:22901 biolink:gene_associated_with_condition MONDO:0029141 infores:ubergraph knowledge_assertion manual_agent HGNC:24102 MONDO:0029141 NCBIGene:7784 biolink:gene_associated_with_condition MONDO:0021574 infores:ubergraph knowledge_assertion manual_agent HGNC:13189 MONDO:0021574 NCBIGene:486 biolink:gene_associated_with_condition MONDO:0007937 infores:clingen HGNC:4026 MONDO:0007937 Moderate 2023-06-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef2e6fc-52d8-4077-a5c9-0f70bbebea36-2023-06-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:644096 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:33867 MONDO:0044970 Definitive 2023-12-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e421e4d0-9618-4fad-bf20-a509d8d527ed-2023-12-04T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:54551 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54551 MONDO:0700096 No evidence available 0 true NCBIGene:22820 biolink:gene_associated_with_condition MONDO:0800136 infores:ubergraph knowledge_assertion manual_agent HGNC:2236 MONDO:0800136 NCBIGene:80311 biolink:gene_associated_with_condition MONDO:0010508 infores:ubergraph knowledge_assertion manual_agent HGNC:29347 MONDO:0010508 NCBIGene:3587 biolink:gene_associated_with_condition MONDO:0013153 infores:ubergraph knowledge_assertion manual_agent HGNC:5964 MONDO:0013153 NCBIGene:3663 biolink:gene_associated_with_condition MONDO:0012834 infores:ubergraph knowledge_assertion manual_agent HGNC:6120 MONDO:0012834 NCBIGene:11141 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11141 MONDO:0700096 No evidence available 0 true NCBIGene:9898 biolink:gene_associated_with_condition MONDO:0957588 infores:ubergraph knowledge_assertion manual_agent HGNC:29877 MONDO:0957588 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0007556 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0007556 NCBIGene:54413 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54413 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1184 biolink:gene_associated_with_condition MONDO:0010358 infores:ubergraph knowledge_assertion manual_agent HGNC:2023 MONDO:0010358 NCBIGene:79728 biolink:gene_associated_with_condition MONDO:0012565 infores:clingen HGNC:26144 MONDO:0012565 Definitive 2019-08-18T16:03:12.829Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ebabbf1-1a43-4a57-b0b8-2b29bb57ade1-2019-08-18T160312.829Z AR Autosomal Recessive 0000007 NCBIGene:9759 biolink:gene_associated_with_condition MONDO:0859232 infores:ubergraph knowledge_assertion manual_agent HGNC:14063 MONDO:0859232 NCBIGene:6905 biolink:gene_associated_with_condition MONDO:0009426 infores:ubergraph knowledge_assertion manual_agent HGNC:11582 MONDO:0009426 NCBIGene:22807 biolink:gene_associated_with_condition MONDO:0800139 infores:clingen HGNC:13177 MONDO:0800139 Moderate 2025-03-11T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c007dec-2ef6-49a6-ba07-5f495c7794ae-2025-03-11T180000.000Z SD Semidominant 0032113 NCBIGene:51259 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen NCBIGene:51259 MONDO:0005308 Definitive 2024-09-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69639963-17ee-4cbb-a7e5-33c48bca114b-2024-09-09T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57104 biolink:gene_associated_with_condition MONDO:0012545 infores:clingen HGNC:30802 MONDO:0012545 Definitive 2022-07-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd21d68b-7688-4164-ba13-1ced669c4dfa-2022-07-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:64324 biolink:gene_associated_with_condition MONDO:0019349 infores:ubergraph knowledge_assertion manual_agent HGNC:14234 MONDO:0019349 NCBIGene:2218 biolink:gene_associated_with_condition MONDO:0012704 infores:ubergraph knowledge_assertion manual_agent HGNC:3622 MONDO:0012704 NCBIGene:1493 biolink:gene_associated_with_condition MONDO:0007699 infores:ubergraph knowledge_assertion manual_agent HGNC:2505 MONDO:0007699 NCBIGene:5447 biolink:gene_associated_with_condition MONDO:0008726 infores:clingen NCBIGene:5447 MONDO:0008726 Definitive 2022-03-23T19:37:29.312Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6275d46a-f005-45f8-b3ec-e9722f8dd39e-2022-03-23T193729.312Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:445 biolink:gene_associated_with_condition MONDO:0008988 infores:clingen HGNC:758 MONDO:0008988 Definitive 2018-12-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dc5ef32-81ca-478e-be42-436da3416e4d-2018-12-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0024507 infores:clingen NCBIGene:5080 MONDO:0024507 Sufficient evidence for dosage pathogenicity 3 NCBIGene:443 biolink:gene_associated_with_condition MONDO:0010079 infores:clingen NCBIGene:443 MONDO:0010079 Definitive 2020-10-08T16:17:01.633Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66306eff-659f-4508-a41b-1820e47e0e1d-2020-10-08T161701.633Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5837 biolink:gene_associated_with_condition MONDO:0009293 infores:ubergraph knowledge_assertion manual_agent HGNC:9726 MONDO:0009293 NCBIGene:11020 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:18626 MONDO:0005308 Definitive 2025-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b081d9f6-bf18-4b13-bae4-8a7ed697a350-2025-02-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:219285 biolink:gene_associated_with_condition MONDO:1060111 infores:ubergraph knowledge_assertion manual_agent HGNC:1349 MONDO:1060111 NCBIGene:4914 biolink:gene_associated_with_condition MONDO:0009746 infores:ubergraph knowledge_assertion manual_agent HGNC:8031 MONDO:0009746 NCBIGene:55154 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:29678 MONDO:0044970 Definitive 2023-05-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10089a58-c9b4-497a-afb0-d249220eb2aa-2023-05-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:291 biolink:gene_associated_with_condition MONDO:0014175 infores:clingen HGNC:10990 MONDO:0014175 Definitive 2017-08-30T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10062 AR Autosomal Recessive 0000007 NCBIGene:79577 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79577 MONDO:0700096 No evidence available 0 true NCBIGene:3918 biolink:gene_associated_with_condition MONDO:0017612 infores:clingen NCBIGene:3918 MONDO:0017612 Gene associated with autosomal recessive phenotype 30 NCBIGene:3612 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3612 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5908 biolink:gene_associated_with_condition MONDO:0958000 infores:ubergraph knowledge_assertion manual_agent HGNC:9857 MONDO:0958000 NCBIGene:64327 biolink:gene_associated_with_condition MONDO:0008515 infores:ubergraph knowledge_assertion manual_agent HGNC:13243 MONDO:0008515 NCBIGene:26353 biolink:gene_associated_with_condition MONDO:0012096 infores:ubergraph knowledge_assertion manual_agent HGNC:30171 MONDO:0012096 NCBIGene:10382 biolink:gene_associated_with_condition MONDO:0800470 infores:ubergraph knowledge_assertion manual_agent HGNC:20774 MONDO:0800470 NCBIGene:6496 biolink:gene_associated_with_condition MONDO:0007999 infores:ubergraph knowledge_assertion manual_agent HGNC:10889 MONDO:0007999 NCBIGene:65057 biolink:gene_associated_with_condition MONDO:0100569 infores:clingen HGNC:25070 MONDO:0100569 Definitive 2024-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c29b6517-54ab-414e-a3ab-e5aa006e0d54-2024-02-20T170000.000Z SD Semidominant 0032113 NCBIGene:10651 biolink:gene_associated_with_condition MONDO:0030880 infores:clingen HGNC:7506 MONDO:0030880 Definitive 2024-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95b2738d-c934-401b-8665-dd6a19ec6a05-2024-06-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6571 biolink:gene_associated_with_condition MONDO:0018130 infores:ubergraph knowledge_assertion manual_agent HGNC:10935 MONDO:0018130 NCBIGene:54902 biolink:gene_associated_with_condition MONDO:0014063 infores:clingen NCBIGene:54902 MONDO:0014063 Gene associated with autosomal recessive phenotype 30 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0012923 infores:clingen HGNC:1527 MONDO:0012923 Definitive 2025-06-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c3e1365-0b20-43c6-87a5-3c15951a2acf-2025-06-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:219972 biolink:gene_associated_with_condition MONDO:0030973 infores:ubergraph knowledge_assertion manual_agent HGNC:29619 MONDO:0030973 NCBIGene:5294 biolink:gene_associated_with_condition MONDO:0030717 infores:clingen HGNC:8978 MONDO:0030717 Moderate 2023-07-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c042f849-508e-4125-be10-cfa6750408ef-2023-07-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1020 biolink:gene_associated_with_condition MONDO:0014596 infores:ubergraph knowledge_assertion manual_agent HGNC:1774 MONDO:0014596 NCBIGene:2770 biolink:gene_associated_with_condition MONDO:0859243 infores:ubergraph knowledge_assertion manual_agent HGNC:4384 MONDO:0859243 NCBIGene:83943 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83943 MONDO:0700096 No evidence available 0 true NCBIGene:1794 biolink:gene_associated_with_condition MONDO:0014637 infores:clingen HGNC:2988 MONDO:0014637 Definitive 2022-11-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63c0fb9c-33a6-4590-91a1-8ebe3967c4a6-2022-11-17T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:1013 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen HGNC:1754 MONDO:0001071 Disputed 2021-02-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9295bddb-d61c-47c2-b186-97296b9c4d94-2021-02-17T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3853 biolink:gene_associated_with_condition MONDO:0014324 infores:ubergraph knowledge_assertion manual_agent HGNC:6443 MONDO:0014324 NCBIGene:10771 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10771 MONDO:0700096 No evidence available 0 true NCBIGene:91147 biolink:gene_associated_with_condition MONDO:0800103 infores:ubergraph knowledge_assertion manual_agent HGNC:28396 MONDO:0800103 NCBIGene:55280 biolink:gene_associated_with_condition MONDO:0015244 infores:clingen HGNC:25613 MONDO:0015244 Definitive 2025-05-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ebc1a4b-1a41-40df-832f-904cd4bb88f9-2025-05-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4286 biolink:gene_associated_with_condition MONDO:0008671 infores:clingen NCBIGene:4286 MONDO:0008671 Sufficient evidence for dosage pathogenicity 3 NCBIGene:22907 biolink:gene_associated_with_condition MONDO:0060622 infores:ubergraph knowledge_assertion manual_agent HGNC:16716 MONDO:0060622 NCBIGene:54974 biolink:gene_associated_with_condition MONDO:0032923 infores:ubergraph knowledge_assertion manual_agent HGNC:26053 MONDO:0032923 NCBIGene:2002 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2002 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2733 biolink:gene_associated_with_condition MONDO:0012750 infores:ubergraph knowledge_assertion manual_agent HGNC:4315 MONDO:0012750 NCBIGene:6007 biolink:gene_associated_with_condition MONDO:0859172 infores:ubergraph knowledge_assertion manual_agent HGNC:10009 MONDO:0859172 NCBIGene:26610 biolink:gene_associated_with_condition MONDO:0700246 infores:clingen HGNC:1171 MONDO:0700246 Moderate 2023-11-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_095db206-85a6-491a-929c-bb4db8d1240a-2023-11-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:57697 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57697 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:22861 biolink:gene_associated_with_condition MONDO:0011684 infores:ubergraph knowledge_assertion manual_agent HGNC:14374 MONDO:0011684 NCBIGene:5885 biolink:gene_associated_with_condition MONDO:0016033 infores:clingen NCBIGene:5885 MONDO:0016033 Definitive 2020-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30ad5023-6c68-42ab-b8ea-a601a134eaf6-2020-01-08T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2563 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:4084 MONDO:0005027 Limited 2023-07-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64f743b4-408d-40d6-855b-ef9d67fc172e-2023-07-18T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:50846 biolink:gene_associated_with_condition MONDO:0009301 infores:ubergraph knowledge_assertion manual_agent HGNC:2865 MONDO:0009301 NCBIGene:948 biolink:gene_associated_with_condition MONDO:0012585 infores:ubergraph knowledge_assertion manual_agent HGNC:1663 MONDO:0012585 NCBIGene:11146 biolink:gene_associated_with_condition MONDO:0007672 infores:clingen NCBIGene:11146 MONDO:0007672 Sufficient evidence for dosage pathogenicity 3 NCBIGene:84433 biolink:gene_associated_with_condition MONDO:0014081 infores:clingen HGNC:16393 MONDO:0014081 Definitive 2022-03-15T13:14:09.712Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ce06b6f-cf7f-43f3-bf9c-5d3978f1db61-2022-03-15T131409.712Z AR Autosomal Recessive 0000007 NCBIGene:6125 biolink:gene_associated_with_condition MONDO:0012937 infores:clingen HGNC:10360 MONDO:0012937 Definitive 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edb6a96b-92d7-4c57-8613-e055d1bdd678-2023-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79029 biolink:gene_associated_with_condition MONDO:0100551 infores:ubergraph knowledge_assertion manual_agent HGNC:28762 MONDO:0100551 NCBIGene:55572 biolink:gene_associated_with_condition MONDO:0032624 infores:ubergraph knowledge_assertion manual_agent HGNC:26927 MONDO:0032624 NCBIGene:4086 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6767 MONDO:0005453 Limited 2024-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44a6fa0b-b6e7-422e-9d01-b74aad2a8b29-2024-05-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1798 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1798 MONDO:0700096 No evidence available 0 true NCBIGene:83538 biolink:gene_associated_with_condition MONDO:0014910 infores:clingen HGNC:25280 MONDO:0014910 Definitive 2022-12-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_547fed6e-47df-44b5-bf4a-e31f7b045862-2022-12-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5191 biolink:gene_associated_with_condition MONDO:0013945 infores:clingen NCBIGene:5191 MONDO:0013945 Gene associated with autosomal recessive phenotype 30 NCBIGene:1493 biolink:gene_associated_with_condition MONDO:0014493 infores:clingen HGNC:2505 MONDO:0014493 Definitive 2020-12-15T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e79675bd-3eef-4925-b4ef-3b7c48734f30-2020-12-15T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:4210 biolink:gene_associated_with_condition MONDO:0018088 infores:clingen HGNC:6998 MONDO:0018088 Definitive 2022-02-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d811d62e-7063-481a-922e-a3d1eb884971-2022-02-23T170000.000Z SD Semidominant 0032113 NCBIGene:3911 biolink:gene_associated_with_condition MONDO:0033856 infores:ubergraph knowledge_assertion manual_agent HGNC:6485 MONDO:0033856 NCBIGene:2811 biolink:gene_associated_with_condition MONDO:0007930 infores:ubergraph knowledge_assertion manual_agent HGNC:4439 MONDO:0007930 NCBIGene:175 biolink:gene_associated_with_condition MONDO:0008830 infores:ubergraph knowledge_assertion manual_agent HGNC:318 MONDO:0008830 NCBIGene:22861 biolink:gene_associated_with_condition MONDO:0060457 infores:ubergraph knowledge_assertion manual_agent HGNC:14374 MONDO:0060457 NCBIGene:54084 biolink:gene_associated_with_condition MONDO:0013929 infores:clingen NCBIGene:54084 MONDO:0013929 Gene associated with autosomal recessive phenotype 30 NCBIGene:6328 biolink:gene_associated_with_condition MONDO:0033371 infores:ubergraph knowledge_assertion manual_agent HGNC:10590 MONDO:0033371 NCBIGene:346007 biolink:gene_associated_with_condition MONDO:0800391 infores:ubergraph knowledge_assertion manual_agent HGNC:21555 MONDO:0800391 NCBIGene:7169 biolink:gene_associated_with_condition MONDO:0100196 infores:clingen NCBIGene:7169 MONDO:0100196 Definitive 2021-01-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f137b6cf-247a-4af0-b41f-6cb976239175-2021-01-04T170000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:27010 biolink:gene_associated_with_condition MONDO:0013761 infores:ubergraph knowledge_assertion manual_agent HGNC:17358 MONDO:0013761 NCBIGene:1767 biolink:gene_associated_with_condition MONDO:0012085 infores:ubergraph knowledge_assertion manual_agent HGNC:2950 MONDO:0012085 NCBIGene:51206 biolink:gene_associated_with_condition MONDO:0013623 infores:clingen NCBIGene:51206 MONDO:0013623 Definitive 2019-10-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76262cf5-f2cd-4466-b542-bf2334a96c73-2019-10-23T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4976 biolink:gene_associated_with_condition MONDO:0008134 infores:ubergraph knowledge_assertion manual_agent HGNC:8140 MONDO:0008134 NCBIGene:3630 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:6081 MONDO:0015967 Definitive 2020-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c21ba4d-785f-486f-84f8-511b9c89c137-2020-05-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:287 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:493 MONDO:0002442 Disputed 2020-12-15T00:27:19.834Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd577817-d668-413c-95f9-d3e08a8cf5d3-2020-12-15T002719.834Z AD Autosomal Dominant 0000006 NCBIGene:11020 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11020 MONDO:0700096 No evidence available 0 true NCBIGene:10660 biolink:gene_associated_with_condition MONDO:0009525 infores:clingen NCBIGene:10660 MONDO:0009525 No evidence available 0 true NCBIGene:27031 biolink:gene_associated_with_condition MONDO:0008833 infores:ubergraph knowledge_assertion manual_agent HGNC:7907 MONDO:0008833 NCBIGene:23112 biolink:gene_associated_with_condition MONDO:0030995 infores:ubergraph knowledge_assertion manual_agent HGNC:29190 MONDO:0030995 NCBIGene:22827 biolink:gene_associated_with_condition MONDO:0014263 infores:ubergraph knowledge_assertion manual_agent HGNC:17042 MONDO:0014263 NCBIGene:5293 biolink:gene_associated_with_condition MONDO:0023655 infores:ubergraph knowledge_assertion manual_agent HGNC:8977 MONDO:0023655 NCBIGene:1174 biolink:gene_associated_with_condition MONDO:0012251 infores:clingen HGNC:559 MONDO:0012251 Definitive 2022-06-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9559de4-1945-47fa-bea5-336d376eec0e-2022-06-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10243 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10243 MONDO:0700096 No evidence available 0 true NCBIGene:55120 biolink:gene_associated_with_condition MONDO:0013566 infores:ubergraph knowledge_assertion manual_agent HGNC:20748 MONDO:0013566 NCBIGene:84842 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:28242 MONDO:0009723 Moderate 2021-06-30T21:57:54.231Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1a484ba-cba2-4a63-8c81-7a8a41c93f9c-2021-06-30T215754.231Z AR Autosomal Recessive 0000007 NCBIGene:2664 biolink:gene_associated_with_condition MONDO:0010451 infores:clingen NCBIGene:2664 MONDO:0010451 true Little evidence for dosage pathogenicity 1 NCBIGene:4677 biolink:gene_associated_with_condition MONDO:0030837 infores:clingen HGNC:7643 MONDO:0030837 Moderate 2024-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42f31685-bea9-4543-9aef-ed80859be363-2024-03-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3081 biolink:gene_associated_with_condition MONDO:0008753 infores:clingen HGNC:4892 MONDO:0008753 Definitive 2020-06-29T17:41:25.541Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5186836d-d9c6-4829-a0c9-59548460d6f2-2020-06-29T174125.541Z AR Autosomal Recessive 0000007 NCBIGene:90 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:171 MONDO:0005453 Limited 2023-08-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a34f19aa-a12e-483c-ae09-a0fce770647b-2023-08-14T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10939 biolink:gene_associated_with_condition MONDO:0013776 infores:ubergraph knowledge_assertion manual_agent HGNC:315 MONDO:0013776 NCBIGene:1373 biolink:gene_associated_with_condition MONDO:0009376 infores:ubergraph knowledge_assertion manual_agent HGNC:2323 MONDO:0009376 NCBIGene:6237 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:10447 MONDO:0018997 Limited 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96280a14-d8cd-4c9b-b3e0-d5fcd8bf9ef6-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:29127 biolink:gene_associated_with_condition MONDO:0030711 infores:ubergraph knowledge_assertion manual_agent HGNC:9804 MONDO:0030711 NCBIGene:22909 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22909 MONDO:0700096 No evidence available 0 true NCBIGene:4907 biolink:gene_associated_with_condition MONDO:0008895 infores:ubergraph knowledge_assertion manual_agent HGNC:8021 MONDO:0008895 NCBIGene:54892 biolink:gene_associated_with_condition MONDO:0032764 infores:clingen HGNC:21904 MONDO:0032764 Limited 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47881134-f959-48b9-a66c-25bb1456e5a8-2023-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3074 biolink:gene_associated_with_condition MONDO:0010006 infores:ubergraph knowledge_assertion manual_agent HGNC:4879 MONDO:0010006 NCBIGene:286464 biolink:gene_associated_with_condition MONDO:0025354 infores:clingen HGNC:26708 MONDO:0025354 Limited 2023-02-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d2e51e3-fec5-4aa8-a093-d316c4feec02-2023-02-09T170000.000Z XL X-linked 0001417 NCBIGene:57104 biolink:gene_associated_with_condition MONDO:0012545 infores:ubergraph knowledge_assertion manual_agent HGNC:30802 MONDO:0012545 NCBIGene:7508 biolink:gene_associated_with_condition MONDO:0010211 infores:clingen NCBIGene:7508 MONDO:0010211 Definitive 2018-11-02T21:42:21.860Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8352d38c-7fb3-4a82-8f8b-7cd08fded1f4-2018-11-02T214221.860Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:55034 biolink:gene_associated_with_condition MONDO:0011346 infores:clingen HGNC:18234 MONDO:0011346 Definitive 2022-08-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04a1363e-0d51-4797-9358-0e48e362ea5f-2022-08-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:84225 biolink:gene_associated_with_condition MONDO:0014366 infores:ubergraph knowledge_assertion manual_agent HGNC:20997 MONDO:0014366 NCBIGene:22858 biolink:gene_associated_with_condition MONDO:0060671 infores:ubergraph knowledge_assertion manual_agent HGNC:21219 MONDO:0060671 NCBIGene:22978 biolink:gene_associated_with_condition MONDO:0013165 infores:ubergraph knowledge_assertion manual_agent HGNC:8022 MONDO:0013165 NCBIGene:6529 biolink:gene_associated_with_condition MONDO:0014633 infores:ubergraph knowledge_assertion manual_agent HGNC:11042 MONDO:0014633 NCBIGene:56999 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:13202 MONDO:0005308 Limited 2022-05-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a31b47e0-c9a5-4bdd-99d7-2d7f0d2a3bc8-2022-05-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4646 biolink:gene_associated_with_condition MONDO:0011660 infores:ubergraph knowledge_assertion manual_agent HGNC:7605 MONDO:0011660 NCBIGene:50484 biolink:gene_associated_with_condition MONDO:0012792 infores:ubergraph knowledge_assertion manual_agent HGNC:17296 MONDO:0012792 NCBIGene:79703 biolink:gene_associated_with_condition MONDO:0032747 infores:ubergraph knowledge_assertion manual_agent HGNC:26197 MONDO:0032747 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0024540 infores:ubergraph knowledge_assertion manual_agent HGNC:6294 MONDO:0024540 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0013545 infores:ubergraph knowledge_assertion manual_agent HGNC:60 MONDO:0013545 NCBIGene:367 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:367 MONDO:0700096 No evidence available 0 true NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0012313 infores:ubergraph knowledge_assertion manual_agent HGNC:6294 MONDO:0012313 NCBIGene:7450 biolink:gene_associated_with_condition MONDO:0015629 infores:clingen HGNC:12726 MONDO:0015629 Definitive 2020-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecfe8bc1-5a4b-4d41-80d1-217af5b5b77f-2020-09-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:79651 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79651 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4318 biolink:gene_associated_with_condition MONDO:0013113 infores:ubergraph knowledge_assertion manual_agent HGNC:7176 MONDO:0013113 NCBIGene:10312 biolink:gene_associated_with_condition MONDO:0009138 infores:clingen HGNC:11647 MONDO:0009138 Limited 2023-12-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_510894e0-bd9e-4929-aae1-ac548138ab6c-2023-12-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9894 biolink:gene_associated_with_condition MONDO:0014848 infores:clingen HGNC:29099 MONDO:0014848 Definitive 2022-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6995e858-919b-4a08-be40-54a56371a408-2022-06-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2780 biolink:gene_associated_with_condition MONDO:0800392 infores:clingen HGNC:4394 MONDO:0800392 Definitive 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6888747f-55ae-4f8e-a3a8-c77bcd543689-2022-11-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8328 biolink:gene_associated_with_condition MONDO:0008553 infores:clingen NCBIGene:8328 MONDO:0008553 Definitive 2019-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62841ea9-5bd8-4250-ab41-31d7cf82d2e3-2019-11-27T170000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:523 biolink:gene_associated_with_condition MONDO:0020632 infores:ubergraph knowledge_assertion manual_agent HGNC:851 MONDO:0020632 NCBIGene:171023 biolink:gene_associated_with_condition MONDO:0011510 infores:ubergraph knowledge_assertion manual_agent HGNC:18318 MONDO:0011510 NCBIGene:23114 biolink:gene_associated_with_condition MONDO:0032698 infores:ubergraph knowledge_assertion manual_agent HGNC:29866 MONDO:0032698 NCBIGene:547 biolink:gene_associated_with_condition MONDO:0013634 infores:ubergraph knowledge_assertion manual_agent HGNC:888 MONDO:0013634 NCBIGene:55687 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:25481 MONDO:0009723 Moderate 2021-01-21T00:47:55.799Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d9d958-be13-4018-ab9c-305788171d1e-2021-01-21T004755.799Z AR Autosomal Recessive 0000007 NCBIGene:11149 biolink:gene_associated_with_condition MONDO:0015152 infores:clingen HGNC:1152 MONDO:0015152 Definitive 2024-08-29T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31a0db34-cad3-4746-a40f-2912318dfbd2-2024-08-29T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:658 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:1077 MONDO:0015924 Disputed 2022-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21917a1-31d3-42dd-b6d3-ea5fa6edd6c1-2022-10-18T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:2512 biolink:gene_associated_with_condition MONDO:0011638 infores:ubergraph knowledge_assertion manual_agent HGNC:3999 MONDO:0011638 NCBIGene:1605 biolink:gene_associated_with_condition MONDO:0013440 infores:ubergraph knowledge_assertion manual_agent HGNC:2666 MONDO:0013440 NCBIGene:1300 biolink:gene_associated_with_condition MONDO:0007983 infores:ubergraph knowledge_assertion manual_agent HGNC:2185 MONDO:0007983 NCBIGene:686 biolink:gene_associated_with_condition MONDO:0009665 infores:ubergraph knowledge_assertion manual_agent HGNC:1122 MONDO:0009665 NCBIGene:9227 biolink:gene_associated_with_condition MONDO:0013231 infores:ubergraph knowledge_assertion manual_agent HGNC:6685 MONDO:0013231 NCBIGene:56203 biolink:gene_associated_with_condition MONDO:0014513 infores:clingen HGNC:6649 MONDO:0014513 Definitive 2019-09-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af248a78-5ef6-4c0b-b174-f43cc4688ec9-2019-09-09T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10935 biolink:gene_associated_with_condition MONDO:0859248 infores:ubergraph knowledge_assertion manual_agent HGNC:9354 MONDO:0859248 NCBIGene:966 biolink:gene_associated_with_condition MONDO:0012858 infores:ubergraph knowledge_assertion manual_agent HGNC:1689 MONDO:0012858 NCBIGene:89910 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:89910 MONDO:0700096 No evidence available 0 true NCBIGene:285600 biolink:gene_associated_with_condition MONDO:0032785 infores:ubergraph knowledge_assertion manual_agent HGNC:28532 MONDO:0032785 NCBIGene:2896 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:4601 MONDO:0016295 Definitive 2023-01-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49eb0915-acff-423d-a70f-d00d4319d404-2023-01-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9653 biolink:gene_associated_with_condition MONDO:0030966 infores:ubergraph knowledge_assertion manual_agent HGNC:5193 MONDO:0030966 NCBIGene:5351 biolink:gene_associated_with_condition MONDO:0016002 infores:clingen NCBIGene:5351 MONDO:0016002 Gene associated with autosomal recessive phenotype 30 NCBIGene:3747 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:6234 MONDO:0100062 Definitive 2023-12-14T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_560c09c7-b58c-4d81-a5e1-d4a76ade613f-2023-12-14T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:57728 biolink:gene_associated_with_condition MONDO:0013719 infores:ubergraph knowledge_assertion manual_agent HGNC:18340 MONDO:0013719 NCBIGene:79695 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79695 MONDO:0700096 No evidence available 0 true NCBIGene:3630 biolink:gene_associated_with_condition MONDO:0013240 infores:ubergraph knowledge_assertion manual_agent HGNC:6081 MONDO:0013240 NCBIGene:3034 biolink:gene_associated_with_condition MONDO:0009345 infores:ubergraph knowledge_assertion manual_agent HGNC:4806 MONDO:0009345 NCBIGene:3690 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3690 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51761 biolink:gene_associated_with_condition MONDO:0014104 infores:ubergraph knowledge_assertion manual_agent HGNC:13533 MONDO:0014104 NCBIGene:4149 biolink:gene_associated_with_condition MONDO:0958227 infores:ubergraph knowledge_assertion manual_agent HGNC:6913 MONDO:0958227 NCBIGene:56945 biolink:gene_associated_with_condition MONDO:0020857 infores:ubergraph knowledge_assertion manual_agent HGNC:14508 MONDO:0020857 NCBIGene:64127 biolink:gene_associated_with_condition MONDO:0015019 infores:ubergraph knowledge_assertion manual_agent HGNC:5331 MONDO:0015019 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0009266 infores:ubergraph knowledge_assertion manual_agent HGNC:4177 MONDO:0009266 NCBIGene:84173 biolink:gene_associated_with_condition MONDO:0014182 infores:ubergraph knowledge_assertion manual_agent HGNC:26158 MONDO:0014182 NCBIGene:1768 biolink:gene_associated_with_condition MONDO:0004983 infores:clingen HGNC:2951 MONDO:0004983 Strong 2025-02-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8654311-1904-48c5-951d-0fa8b6e61caa-2025-02-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:9054 biolink:gene_associated_with_condition MONDO:0030311 infores:ubergraph knowledge_assertion manual_agent HGNC:15910 MONDO:0030311 NCBIGene:10718 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10718 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:8632 biolink:gene_associated_with_condition MONDO:0032845 infores:clingen HGNC:2946 MONDO:0032845 Definitive 2022-09-08T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef0cbb29-220d-45ae-828c-ab233dcf4824-2022-09-08T110000.000Z AR Autosomal Recessive 0000007 NCBIGene:10524 biolink:gene_associated_with_condition MONDO:0030852 infores:ubergraph knowledge_assertion manual_agent HGNC:5275 MONDO:0030852 NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0007244 infores:ubergraph knowledge_assertion manual_agent HGNC:2197 MONDO:0007244 NCBIGene:23019 biolink:gene_associated_with_condition MONDO:0033618 infores:ubergraph knowledge_assertion manual_agent HGNC:7877 MONDO:0033618 NCBIGene:54822 biolink:gene_associated_with_condition MONDO:0031447 infores:clingen HGNC:17994 MONDO:0031447 Moderate 2024-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54c99d3f-327b-46d6-9f3b-701fdc65eab9-2024-06-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5515 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:9299 MONDO:0100038 Definitive 2025-05-07T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3b4ae44-dba7-493a-8ee8-786063e2d304-2025-05-07T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:10577 biolink:gene_associated_with_condition MONDO:0011873 infores:clingen HGNC:14537 MONDO:0011873 Definitive 2022-04-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82bb23dd-d3bc-478d-bb3d-d1928e810029-2022-04-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1490 biolink:gene_associated_with_condition MONDO:0008881 infores:ubergraph knowledge_assertion manual_agent HGNC:2500 MONDO:0008881 NCBIGene:6927 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6927 MONDO:0700096 No evidence available 0 true NCBIGene:4292 biolink:gene_associated_with_condition MONDO:0010159 infores:ubergraph knowledge_assertion manual_agent HGNC:7127 MONDO:0010159 NCBIGene:735 biolink:gene_associated_with_condition MONDO:0014266 infores:ubergraph knowledge_assertion manual_agent HGNC:1358 MONDO:0014266 NCBIGene:8738 biolink:gene_associated_with_condition MONDO:0013785 infores:clingen NCBIGene:8738 MONDO:0013785 Gene associated with autosomal recessive phenotype 30 NCBIGene:54902 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:26006 MONDO:0009723 Definitive 2019-09-19T16:01:32.570Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc9dcb6-1f63-41b1-80f1-a0f2a87b5ec4-2019-09-19T160132.570Z AR Autosomal Recessive 0000007 NCBIGene:3762 biolink:gene_associated_with_condition MONDO:0013279 infores:ubergraph knowledge_assertion manual_agent HGNC:6266 MONDO:0013279 NCBIGene:5156 biolink:gene_associated_with_condition MONDO:0011719 infores:clingen HGNC:8803 MONDO:0011719 Definitive 2020-01-13T19:55:09.878Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08bbf13f-bc04-47a7-a3c5-1ec6abfc9190-2020-01-13T195509.878Z AD Autosomal Dominant 0000006 NCBIGene:5425 biolink:gene_associated_with_condition MONDO:0800145 infores:clingen HGNC:9176 MONDO:0800145 Limited 2023-02-16T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dac83899-5bf3-4b5e-ba39-868b54cea34a-2023-02-16T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:6748 biolink:gene_associated_with_condition MONDO:0010490 infores:ubergraph knowledge_assertion manual_agent HGNC:11326 MONDO:0010490 NCBIGene:3075 biolink:gene_associated_with_condition MONDO:0012540 infores:ubergraph knowledge_assertion manual_agent HGNC:4883 MONDO:0012540 NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0010378 infores:clingen NCBIGene:9131 MONDO:0010378 true No evidence available 0 NCBIGene:210 biolink:gene_associated_with_condition MONDO:0013000 infores:clingen NCBIGene:210 MONDO:0013000 Moderate 2025-01-14T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac683af-ca8d-46ab-8641-66ab9b537d16-2025-01-14T200000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7358 biolink:gene_associated_with_condition MONDO:0032918 infores:ubergraph knowledge_assertion manual_agent HGNC:12525 MONDO:0032918 NCBIGene:287 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:493 MONDO:0015263 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10145 AD Autosomal Dominant 0000006 NCBIGene:28957 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14513 MONDO:0044970 Limited 2024-06-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6267db05-fe30-4c0c-a221-63229d2a88e7-2024-06-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10714 biolink:gene_associated_with_condition MONDO:0971151 infores:clingen HGNC:20932 MONDO:0971151 Limited 2025-06-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0541ce71-475d-408f-84ad-4fe966a101d6-2025-06-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2903 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:2903 MONDO:0100038 Definitive 2019-07-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c405372-b99b-42fc-836d-65d7c0cbd279-2019-07-16T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:60386 biolink:gene_associated_with_condition MONDO:0000152 infores:clingen NCBIGene:60386 MONDO:0000152 Gene associated with autosomal recessive phenotype 30 NCBIGene:2782 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2782 MONDO:0700096 No evidence available 0 true NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3784 MONDO:0700096 No evidence available 0 true NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0007173 infores:ubergraph knowledge_assertion manual_agent HGNC:2488 MONDO:0007173 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0011732 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0011732 NCBIGene:9342 biolink:gene_associated_with_condition MONDO:0012290 infores:ubergraph knowledge_assertion manual_agent HGNC:11133 MONDO:0012290 NCBIGene:200424 biolink:gene_associated_with_condition MONDO:0032922 infores:ubergraph knowledge_assertion manual_agent HGNC:28313 MONDO:0032922 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0018214 infores:clingen HGNC:10586 MONDO:0018214 Definitive 2022-12-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91fb4b50-478b-4e3a-ac8a-a5cb7634a492-2022-12-13T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:26580 biolink:gene_associated_with_condition MONDO:0030860 infores:ubergraph knowledge_assertion manual_agent HGNC:15832 MONDO:0030860 NCBIGene:5191 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8860 MONDO:0019234 Definitive 2020-02-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0796d69-b304-4670-b4a2-8785ff6fd161-2020-02-14T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:859 biolink:gene_associated_with_condition MONDO:0016146 infores:clingen HGNC:1529 MONDO:0016146 Definitive 2022-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a314687e-b35d-4bb4-8b93-efcc83d1fa9b-2022-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:10484 MONDO:0016587 Refuted 2019-07-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52fa7dee-4daa-4685-9461-f39c57a22f05-2019-07-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6392 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10683 MONDO:0044970 Limited 2022-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9010c629-a86c-4f55-a45b-212b7aabdb6f-2022-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0010909 infores:ubergraph knowledge_assertion manual_agent HGNC:3438 MONDO:0010909 NCBIGene:2558 biolink:gene_associated_with_condition MONDO:0032813 infores:ubergraph knowledge_assertion manual_agent HGNC:4079 MONDO:0032813 NCBIGene:6392 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6392 MONDO:0700096 No evidence available 0 true NCBIGene:10112 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:9787 MONDO:0005453 Limited 2024-06-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6933da23-6904-43da-bd0e-5a4b65ad323d-2024-06-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:607 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:1008 MONDO:0005453 Limited 2023-09-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f45b6e5-4286-40d2-aadf-9b15a62c26df-2023-09-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23090 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:16762 MONDO:0005308 Moderate 2024-06-26T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c61623dd-07b1-41c5-b445-3f9f8575cc06-2024-06-26T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:51196 biolink:gene_associated_with_condition MONDO:0012546 infores:ubergraph knowledge_assertion manual_agent HGNC:17175 MONDO:0012546 NCBIGene:1181 biolink:gene_associated_with_condition MONDO:0014292 infores:ubergraph knowledge_assertion manual_agent HGNC:2020 MONDO:0014292 NCBIGene:83552 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83552 MONDO:0700096 No evidence available 0 true NCBIGene:8443 biolink:gene_associated_with_condition MONDO:0100273 infores:clingen HGNC:4416 MONDO:0100273 Definitive 2020-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba96f922-5ec9-4404-b2e4-66c31c2dcda6-2020-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6117 biolink:gene_associated_with_condition MONDO:0030690 infores:ubergraph knowledge_assertion manual_agent HGNC:10289 MONDO:0030690 NCBIGene:948 biolink:gene_associated_with_condition MONDO:0012031 infores:clingen NCBIGene:948 MONDO:0012031 Gene associated with autosomal recessive phenotype 30 NCBIGene:84100 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84100 MONDO:0700096 No evidence available 0 true NCBIGene:5604 biolink:gene_associated_with_condition MONDO:0007970 infores:ubergraph knowledge_assertion manual_agent HGNC:6840 MONDO:0007970 NCBIGene:284111 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:284111 MONDO:0700096 No evidence available 0 true NCBIGene:6809 biolink:gene_associated_with_condition MONDO:0859170 infores:ubergraph knowledge_assertion manual_agent HGNC:11438 MONDO:0859170 NCBIGene:26013 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26013 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:8200 biolink:gene_associated_with_condition MONDO:0008703 infores:ubergraph knowledge_assertion manual_agent HGNC:4220 MONDO:0008703 NCBIGene:54897 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:26002 MONDO:0005453 Limited 2024-08-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_754d56b3-0749-4292-b6c8-96ab61232076-2024-08-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2978 biolink:gene_associated_with_condition MONDO:0011193 infores:ubergraph knowledge_assertion manual_agent HGNC:4678 MONDO:0011193 NCBIGene:85007 biolink:gene_associated_with_condition MONDO:0014008 infores:ubergraph knowledge_assertion manual_agent HGNC:28249 MONDO:0014008 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0007688 infores:clingen HGNC:6770 MONDO:0007688 Definitive 2025-10-29T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5a082cc-c214-4bfa-8cb8-caead239d129-2025-10-29T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0014163 infores:ubergraph knowledge_assertion manual_agent HGNC:7551 MONDO:0014163 NCBIGene:51300 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:1321 MONDO:0009723 Limited 2021-06-30T22:00:13.257Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83d26d62-2863-46d9-ad7d-96c086e65e8e-2021-06-30T220013.257Z AR Autosomal Recessive 0000007 NCBIGene:4153 biolink:gene_associated_with_condition MONDO:0013714 infores:ubergraph knowledge_assertion manual_agent HGNC:6922 MONDO:0013714 NCBIGene:6223 biolink:gene_associated_with_condition MONDO:0007110 infores:ubergraph knowledge_assertion manual_agent HGNC:10402 MONDO:0007110 NCBIGene:2120 biolink:gene_associated_with_condition MONDO:0014536 infores:ubergraph knowledge_assertion manual_agent HGNC:3495 MONDO:0014536 NCBIGene:10290 biolink:gene_associated_with_condition MONDO:0014418 infores:clingen NCBIGene:10290 MONDO:0014418 Definitive 2020-01-12T21:34:16.305Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a8f91f1-da1e-489d-84e1-46aa543b3df9-2020-01-12T213416.305Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23261 biolink:gene_associated_with_condition MONDO:0013886 infores:clingen NCBIGene:23261 MONDO:0013886 Definitive 2023-05-16T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c099ca83-11be-4d06-b8d7-f2cd8efca1a5-2023-05-16T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23139 biolink:gene_associated_with_condition MONDO:0000831 infores:clingen HGNC:19035 MONDO:0000831 Limited 2025-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0a83bd7-b175-4dbd-81e8-04e3f43c9380-2025-06-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1106 biolink:gene_associated_with_condition MONDO:0014150 infores:ubergraph knowledge_assertion manual_agent HGNC:1917 MONDO:0014150 NCBIGene:402381 biolink:gene_associated_with_condition MONDO:0054666 infores:ubergraph knowledge_assertion manual_agent HGNC:27845 MONDO:0054666 NCBIGene:84987 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:28216 MONDO:0044970 Limited 2022-03-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8899dbb6-9769-4d93-83fb-e95b6775962c-2022-03-21T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:9725 biolink:gene_associated_with_condition MONDO:0032871 infores:ubergraph knowledge_assertion manual_agent HGNC:29118 MONDO:0032871 NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0011493 infores:ubergraph knowledge_assertion manual_agent HGNC:2186 MONDO:0011493 NCBIGene:1300 biolink:gene_associated_with_condition MONDO:0007983 infores:clingen HGNC:2185 MONDO:0007983 Definitive 2024-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5529304a-e8aa-4e44-a544-6864b8afe78a-2024-06-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:93210 biolink:gene_associated_with_condition MONDO:0014318 infores:ubergraph knowledge_assertion manual_agent HGNC:23719 MONDO:0014318 NCBIGene:51475 biolink:gene_associated_with_condition MONDO:0013963 infores:clingen NCBIGene:51475 MONDO:0013963 Gene associated with autosomal recessive phenotype 30 NCBIGene:4627 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4627 MONDO:0700096 No evidence available 0 true NCBIGene:23431 biolink:gene_associated_with_condition MONDO:0100176 infores:clingen HGNC:573 MONDO:0100176 Definitive 2020-12-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be93d2e7-f302-41a7-9675-032510e46ad2-2020-12-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3020 biolink:gene_associated_with_condition MONDO:0030606 infores:ubergraph knowledge_assertion manual_agent HGNC:4764 MONDO:0030606 NCBIGene:65055 biolink:gene_associated_with_condition MONDO:0013884 infores:ubergraph knowledge_assertion manual_agent HGNC:25786 MONDO:0013884 NCBIGene:5459 biolink:gene_associated_with_condition MONDO:0011226 infores:ubergraph knowledge_assertion manual_agent HGNC:9220 MONDO:0011226 NCBIGene:338 biolink:gene_associated_with_condition MONDO:0014252 infores:ubergraph knowledge_assertion manual_agent HGNC:603 MONDO:0014252 NCBIGene:8314 biolink:gene_associated_with_condition MONDO:0013692 infores:ubergraph knowledge_assertion manual_agent HGNC:950 MONDO:0013692 NCBIGene:5073 biolink:gene_associated_with_condition MONDO:0014612 infores:clingen HGNC:8609 MONDO:0014612 Definitive 2024-10-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41fad60d-6ec1-4888-9072-f5135b68aad6-2024-10-25T160000.000Z SD Semidominant 0032113 NCBIGene:10128 biolink:gene_associated_with_condition MONDO:0009069 infores:clingen NCBIGene:10128 MONDO:0009069 Gene associated with autosomal recessive phenotype 30 NCBIGene:4638 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:7590 MONDO:0019625 Strong 2016-12-18T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8257 AD Autosomal Dominant 0000006 NCBIGene:2661 biolink:gene_associated_with_condition MONDO:0044777 infores:ubergraph knowledge_assertion manual_agent HGNC:4224 MONDO:0044777 NCBIGene:3265 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3265 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2260 MONDO:0700096 No evidence available 0 true NCBIGene:92745 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:92745 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7415 biolink:gene_associated_with_condition MONDO:0008178 infores:ubergraph knowledge_assertion manual_agent HGNC:12666 MONDO:0008178 NCBIGene:164781 biolink:gene_associated_with_condition MONDO:0018677 infores:clingen HGNC:26383 MONDO:0018677 Moderate 2024-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_999c6072-d9c6-4339-aea7-8247941748a6-2024-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3861 biolink:gene_associated_with_condition MONDO:0008059 infores:ubergraph knowledge_assertion manual_agent HGNC:6416 MONDO:0008059 NCBIGene:5728 biolink:gene_associated_with_condition MONDO:0007924 infores:ubergraph knowledge_assertion manual_agent HGNC:9588 MONDO:0007924 NCBIGene:6927 biolink:gene_associated_with_condition MONDO:0007718 infores:ubergraph knowledge_assertion manual_agent HGNC:11621 MONDO:0007718 NCBIGene:9896 biolink:gene_associated_with_condition MONDO:0012986 infores:ubergraph knowledge_assertion manual_agent HGNC:16873 MONDO:0012986 NCBIGene:8642 biolink:gene_associated_with_condition MONDO:0017813 infores:clingen HGNC:13681 MONDO:0017813 Moderate 2024-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c551a092-b6ed-406d-828d-58446b5aa1cf-2024-07-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4297 biolink:gene_associated_with_condition MONDO:0011518 infores:ubergraph knowledge_assertion manual_agent HGNC:7132 MONDO:0011518 NCBIGene:8517 biolink:gene_associated_with_condition MONDO:0100162 infores:ubergraph knowledge_assertion manual_agent HGNC:5961 MONDO:0100162 NCBIGene:8642 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:13681 MONDO:0005453 Disputed 2024-04-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff470254-615c-4f86-8893-0431889c1472-2024-04-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4089 biolink:gene_associated_with_condition MONDO:0008276 infores:ubergraph knowledge_assertion manual_agent HGNC:6770 MONDO:0008276 NCBIGene:10522 biolink:gene_associated_with_condition MONDO:0014952 infores:ubergraph knowledge_assertion manual_agent HGNC:14677 MONDO:0014952 NCBIGene:3827 biolink:gene_associated_with_condition MONDO:0009234 infores:ubergraph knowledge_assertion manual_agent HGNC:6383 MONDO:0009234 NCBIGene:5972 biolink:gene_associated_with_condition MONDO:0013128 infores:ubergraph knowledge_assertion manual_agent HGNC:9958 MONDO:0013128 NCBIGene:1540 biolink:gene_associated_with_condition MONDO:0011512 infores:ubergraph knowledge_assertion manual_agent HGNC:2584 MONDO:0011512 NCBIGene:4038 biolink:gene_associated_with_condition MONDO:0014578 infores:clingen HGNC:6696 MONDO:0014578 Limited 2023-04-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73e799e4-91c7-4ccc-a55f-10a80f619e08-2023-04-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6794 biolink:gene_associated_with_condition MONDO:0008280 infores:clingen NCBIGene:6794 MONDO:0008280 Definitive 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89685102-ac40-4932-96e7-c2e9e9280858-2023-12-20T180000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5557 biolink:gene_associated_with_condition MONDO:0859276 infores:clingen HGNC:9369 MONDO:0859276 Moderate 2025-03-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56859937-d536-48e8-915d-2f2b7ff07c74-2025-03-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:161582 biolink:gene_associated_with_condition MONDO:0014203 infores:ubergraph knowledge_assertion manual_agent HGNC:21493 MONDO:0014203 NCBIGene:2006 biolink:gene_associated_with_condition MONDO:0007411 infores:clingen HGNC:3327 MONDO:0007411 Definitive 2024-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bfdc253-320e-4c03-959f-57348fe403fd-2024-10-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:26090 biolink:gene_associated_with_condition MONDO:0012984 infores:ubergraph knowledge_assertion manual_agent HGNC:15868 MONDO:0012984 NCBIGene:57545 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:29253 MONDO:0005308 Definitive 2022-08-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0acbae16-a383-4345-978c-9d28dda80d02-2022-08-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23093 biolink:gene_associated_with_condition MONDO:0014372 infores:clingen NCBIGene:23093 MONDO:0014372 Gene associated with autosomal recessive phenotype 30 NCBIGene:91807 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:29826 MONDO:0005021 Moderate 2025-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_713bb7fc-2ae0-488f-acfa-4c0bf963e8bc-2025-07-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10087 biolink:gene_associated_with_condition MONDO:0014599 infores:ubergraph knowledge_assertion manual_agent HGNC:2205 MONDO:0014599 NCBIGene:1020 biolink:gene_associated_with_condition MONDO:0019450 infores:clingen HGNC:1774 MONDO:0019450 Moderate 2024-04-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f6ba2ff-6567-493e-bf39-f05c03013e20-2024-04-29T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:718 biolink:gene_associated_with_condition MONDO:0013417 infores:ubergraph knowledge_assertion manual_agent HGNC:1318 MONDO:0013417 NCBIGene:2189 biolink:gene_associated_with_condition MONDO:0013565 infores:clingen NCBIGene:2189 MONDO:0013565 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1913bd10-1355-4067-93b6-9068924d77df-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1462 biolink:gene_associated_with_condition MONDO:0007740 infores:clingen HGNC:2464 MONDO:0007740 Definitive 2021-07-26T18:39:19.943Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1ea2623-463f-40f1-befb-5dfde7abc784-2021-07-26T183919.943Z AD Autosomal Dominant 0000006 NCBIGene:134218 biolink:gene_associated_with_condition MONDO:0014887 infores:clingen NCBIGene:134218 MONDO:0014887 Definitive 2025-03-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff6cd8ae-86bd-4dc5-a2ca-ddca284c826c-2025-03-11T160000.000Z AR Autosomal Recessive 0000007 true Little evidence for dosage pathogenicity 1 NCBIGene:63895 biolink:gene_associated_with_condition MONDO:0007158 infores:ubergraph knowledge_assertion manual_agent HGNC:26270 MONDO:0007158 NCBIGene:6663 biolink:gene_associated_with_condition MONDO:0013202 infores:ubergraph knowledge_assertion manual_agent HGNC:11190 MONDO:0013202 NCBIGene:57817 biolink:gene_associated_with_condition MONDO:0013220 infores:clingen HGNC:15598 MONDO:0013220 Definitive 2025-10-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b814eee-9d88-4a9b-88bf-3e9b4e6613b1-2025-10-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6334 biolink:gene_associated_with_condition MONDO:0014903 infores:ubergraph knowledge_assertion manual_agent HGNC:10596 MONDO:0014903 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:1527 MONDO:0004976 Limited 2023-12-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cab41529-d295-466c-8821-75a16bb12c38-2023-12-21T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1718 biolink:gene_associated_with_condition MONDO:0011217 infores:ubergraph knowledge_assertion manual_agent HGNC:2859 MONDO:0011217 NCBIGene:29119 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:2511 MONDO:0005453 Disputed 2023-10-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d30ce558-9009-45d3-9eb3-9b5c7594d1b8-2023-10-17T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:23514 biolink:gene_associated_with_condition MONDO:0030506 infores:ubergraph knowledge_assertion manual_agent HGNC:28971 MONDO:0030506 NCBIGene:79796 biolink:gene_associated_with_condition MONDO:0700000 infores:clingen HGNC:15672 MONDO:0700000 Definitive 2023-09-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38d817af-0a28-4453-a00f-ffccadbd9936-2023-09-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:78995 biolink:gene_associated_with_condition MONDO:0971176 infores:ubergraph knowledge_assertion manual_agent HGNC:28460 MONDO:0971176 NCBIGene:55135 biolink:gene_associated_with_condition MONDO:0013520 infores:ubergraph knowledge_assertion manual_agent HGNC:25522 MONDO:0013520 NCBIGene:54834 biolink:gene_associated_with_condition MONDO:0032706 infores:ubergraph knowledge_assertion manual_agent HGNC:18010 MONDO:0032706 NCBIGene:79631 biolink:gene_associated_with_condition MONDO:0044205 infores:ubergraph knowledge_assertion manual_agent HGNC:25789 MONDO:0044205 NCBIGene:63035 biolink:gene_associated_with_condition MONDO:0026727 infores:ubergraph knowledge_assertion manual_agent HGNC:25657 MONDO:0026727 NCBIGene:54949 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54949 MONDO:0700096 No evidence available 0 true NCBIGene:308 biolink:gene_associated_with_condition MONDO:0013729 infores:ubergraph knowledge_assertion manual_agent HGNC:543 MONDO:0013729 NCBIGene:55775 biolink:gene_associated_with_condition MONDO:0011801 infores:ubergraph knowledge_assertion manual_agent HGNC:18884 MONDO:0011801 NCBIGene:4864 biolink:gene_associated_with_condition MONDO:0009757 infores:ubergraph knowledge_assertion manual_agent HGNC:7897 MONDO:0009757 NCBIGene:9516 biolink:gene_associated_with_condition MONDO:0010995 infores:ubergraph knowledge_assertion manual_agent HGNC:16841 MONDO:0010995 NCBIGene:57505 biolink:gene_associated_with_condition MONDO:0014387 infores:ubergraph knowledge_assertion manual_agent HGNC:21022 MONDO:0014387 NCBIGene:50511 biolink:gene_associated_with_condition MONDO:0010052 infores:ubergraph knowledge_assertion manual_agent HGNC:18130 MONDO:0010052 NCBIGene:1908 biolink:gene_associated_with_condition MONDO:0013201 infores:ubergraph knowledge_assertion manual_agent HGNC:3178 MONDO:0013201 NCBIGene:7168 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:12010 MONDO:0016587 No Known Disease Relationship 2019-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e69d885-a5c6-48de-bb65-0943a6c2268d-2019-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:390594 biolink:gene_associated_with_condition MONDO:0012237 infores:clingen HGNC:37227 MONDO:0012237 Definitive 2025-01-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff2f157e-741b-447d-a6c5-1d003e2e98e1-2025-01-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:163183 biolink:gene_associated_with_condition MONDO:0014237 infores:clingen NCBIGene:163183 MONDO:0014237 Gene associated with autosomal recessive phenotype 30 NCBIGene:54344 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54344 MONDO:0700096 No evidence available 0 true NCBIGene:10269 biolink:gene_associated_with_condition MONDO:0800042 infores:ubergraph knowledge_assertion manual_agent HGNC:12877 MONDO:0800042 NCBIGene:1056 biolink:gene_associated_with_condition MONDO:0012348 infores:clingen HGNC:1848 MONDO:0012348 Moderate 2023-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06571680-3730-4075-8e65-f6de7ddd3e62-2023-09-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1969 biolink:gene_associated_with_condition MONDO:0007288 infores:ubergraph knowledge_assertion manual_agent HGNC:3386 MONDO:0007288 NCBIGene:8891 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8891 MONDO:0700096 No evidence available 0 true NCBIGene:57728 biolink:gene_associated_with_condition MONDO:0030809 infores:ubergraph knowledge_assertion manual_agent HGNC:18340 MONDO:0030809 NCBIGene:25942 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:25942 MONDO:0700096 No evidence available 0 true NCBIGene:49855 biolink:gene_associated_with_condition MONDO:0032594 infores:ubergraph knowledge_assertion manual_agent HGNC:13081 MONDO:0032594 NCBIGene:54766 biolink:gene_associated_with_condition MONDO:0033564 infores:ubergraph knowledge_assertion manual_agent HGNC:13862 MONDO:0033564 NCBIGene:3859 biolink:gene_associated_with_condition MONDO:0020791 infores:ubergraph knowledge_assertion manual_agent HGNC:6414 MONDO:0020791 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:7551 MONDO:0016587 Limited 2019-08-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0639d989-8415-425c-ab89-e8a3a0b6ea49-2019-08-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2688 biolink:gene_associated_with_condition MONDO:0008250 infores:ubergraph knowledge_assertion manual_agent HGNC:4261 MONDO:0008250 NCBIGene:4487 biolink:gene_associated_with_condition MONDO:0007129 infores:clingen NCBIGene:4487 MONDO:0007129 Definitive 2024-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6624512d-c0c5-4620-9d36-47fa7f1fbee6-2024-02-08T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7707 biolink:gene_associated_with_condition MONDO:0014994 infores:ubergraph knowledge_assertion manual_agent HGNC:12933 MONDO:0014994 NCBIGene:55914 biolink:gene_associated_with_condition MONDO:0958120 infores:clingen HGNC:15842 MONDO:0958120 Limited 2025-02-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7b31c5a-f637-41f6-ba84-dde5e3dc7738-2025-02-20T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:7143 biolink:gene_associated_with_condition MONDO:0859212 infores:clingen HGNC:11953 MONDO:0859212 Definitive 2025-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe529d03-c7e4-4638-8ce5-de4400a34fb0-2025-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:11014 biolink:gene_associated_with_condition MONDO:0030861 infores:ubergraph knowledge_assertion manual_agent HGNC:6305 MONDO:0030861 NCBIGene:9662 biolink:gene_associated_with_condition MONDO:0013849 infores:ubergraph knowledge_assertion manual_agent HGNC:29086 MONDO:0013849 NCBIGene:1977 biolink:gene_associated_with_condition MONDO:0014041 infores:ubergraph knowledge_assertion manual_agent HGNC:3287 MONDO:0014041 NCBIGene:85476 biolink:gene_associated_with_condition MONDO:0012191 infores:clingen NCBIGene:85476 MONDO:0012191 Gene associated with autosomal recessive phenotype 30 NCBIGene:10273 biolink:gene_associated_with_condition MONDO:0032526 infores:ubergraph knowledge_assertion manual_agent HGNC:11427 MONDO:0032526 NCBIGene:51428 biolink:gene_associated_with_condition MONDO:0014809 infores:ubergraph knowledge_assertion manual_agent HGNC:18674 MONDO:0014809 NCBIGene:10892 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10892 MONDO:0700096 No evidence available 0 true NCBIGene:85365 biolink:gene_associated_with_condition MONDO:0011933 infores:clingen HGNC:23159 MONDO:0011933 Strong 2023-11-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7cb8bd0-58b2-4644-a041-76f42f564fbc-2023-11-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:54714 biolink:gene_associated_with_condition MONDO:0100446 infores:clingen HGNC:2153 MONDO:0100446 Definitive 2022-05-24T17:13:17.094Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa7bad05-3d4d-4a69-b4e9-82f9224a77f4-2022-05-24T171317.094Z AR Autosomal Recessive 0000007 NCBIGene:11152 biolink:gene_associated_with_condition MONDO:0010476 infores:ubergraph knowledge_assertion manual_agent HGNC:28912 MONDO:0010476 NCBIGene:9570 biolink:gene_associated_with_condition MONDO:0859336 infores:ubergraph knowledge_assertion manual_agent HGNC:4431 MONDO:0859336 NCBIGene:79813 biolink:gene_associated_with_condition MONDO:0027407 infores:ubergraph knowledge_assertion manual_agent HGNC:24650 MONDO:0027407 NCBIGene:5019 biolink:gene_associated_with_condition MONDO:0009492 infores:clingen NCBIGene:5019 MONDO:0009492 Gene associated with autosomal recessive phenotype 30 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0008478 infores:ubergraph knowledge_assertion manual_agent HGNC:2200 MONDO:0008478 NCBIGene:64518 biolink:gene_associated_with_condition MONDO:0859522 infores:ubergraph knowledge_assertion manual_agent HGNC:14293 MONDO:0859522 NCBIGene:23395 biolink:gene_associated_with_condition MONDO:0014126 infores:ubergraph knowledge_assertion manual_agent HGNC:17095 MONDO:0014126 NCBIGene:92345 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:92345 MONDO:0700096 No evidence available 0 true NCBIGene:55823 biolink:gene_associated_with_condition MONDO:0100617 infores:clingen HGNC:14583 MONDO:0100617 Definitive 2025-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7f8aa3e-b2c0-4607-8ceb-a5585cff29ea-2025-04-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:53904 biolink:gene_associated_with_condition MONDO:0011774 infores:clingen NCBIGene:53904 MONDO:0011774 Gene associated with autosomal recessive phenotype 30 NCBIGene:1028 biolink:gene_associated_with_condition MONDO:0013873 infores:ubergraph knowledge_assertion manual_agent HGNC:1786 MONDO:0013873 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0008513 infores:clingen NCBIGene:3239 MONDO:0008513 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10008 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:6243 MONDO:0015263 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10152 AD Autosomal Dominant 0000006 NCBIGene:6785 biolink:gene_associated_with_condition MONDO:0700227 infores:ubergraph knowledge_assertion manual_agent HGNC:14415 MONDO:0700227 NCBIGene:55596 biolink:gene_associated_with_condition MONDO:0032865 infores:clingen HGNC:25265 MONDO:0032865 Moderate 2024-10-17T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a97a49-6f40-4009-9215-2c61901d8087-2024-10-17T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:80308 biolink:gene_associated_with_condition MONDO:0009703 infores:ubergraph knowledge_assertion manual_agent HGNC:24671 MONDO:0009703 NCBIGene:1161 biolink:gene_associated_with_condition MONDO:0013829 infores:ubergraph knowledge_assertion manual_agent HGNC:3439 MONDO:0013829 NCBIGene:55775 biolink:gene_associated_with_condition MONDO:0011801 infores:clingen NCBIGene:55775 MONDO:0011801 Gene associated with autosomal recessive phenotype 30 NCBIGene:201294 biolink:gene_associated_with_condition MONDO:0012146 infores:ubergraph knowledge_assertion manual_agent HGNC:23147 MONDO:0012146 NCBIGene:91452 biolink:gene_associated_with_condition MONDO:0030026 infores:ubergraph knowledge_assertion manual_agent HGNC:23338 MONDO:0030026 NCBIGene:1736 biolink:gene_associated_with_condition MONDO:0100152 infores:clingen NCBIGene:1736 MONDO:0100152 Definitive 2020-09-13T15:33:38.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd6a4ca-7a1c-42ef-a9cf-bef557128f12-2020-09-13T153338.000Z XL X-linked 0001417 true Little evidence for dosage pathogenicity 1 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1278 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2917 biolink:gene_associated_with_condition MONDO:0030063 infores:ubergraph knowledge_assertion manual_agent HGNC:4599 MONDO:0030063 NCBIGene:2673 biolink:gene_associated_with_condition MONDO:0012518 infores:ubergraph knowledge_assertion manual_agent HGNC:4241 MONDO:0012518 NCBIGene:5591 biolink:gene_associated_with_condition MONDO:0014423 infores:clingen HGNC:9413 MONDO:0014423 Definitive 2022-02-01T15:16:58.605Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fff25ca1-bbe5-47d3-b672-4b675a9fa6f7-2022-02-01T151658.605Z AR Autosomal Recessive 0000007 NCBIGene:126792 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:126792 MONDO:0700096 No evidence available 0 true NCBIGene:1103 biolink:gene_associated_with_condition MONDO:0009689 infores:clingen NCBIGene:1103 MONDO:0009689 Definitive 2025-03-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e6d5128-7f30-407b-9d0b-88bf8a719eb8-2025-03-24T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:63924 biolink:gene_associated_with_condition MONDO:0014098 infores:ubergraph knowledge_assertion manual_agent HGNC:24229 MONDO:0014098 NCBIGene:215 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:215 MONDO:0700096 No evidence available 0 true NCBIGene:1147 biolink:gene_associated_with_condition MONDO:0013334 infores:ubergraph knowledge_assertion manual_agent HGNC:1974 MONDO:0013334 NCBIGene:6901 biolink:gene_associated_with_condition MONDO:0010543 infores:clingen HGNC:11577 MONDO:0010543 Definitive 2021-02-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1629e6ab-9749-4949-bf54-fe1addf4dcfd-2021-02-12T170000.000Z XL X-linked 0001417 NCBIGene:7102 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7102 MONDO:0700096 No evidence available 0 true NCBIGene:54332 biolink:gene_associated_with_condition MONDO:0012014 infores:ubergraph knowledge_assertion manual_agent HGNC:15968 MONDO:0012014 NCBIGene:51293 biolink:gene_associated_with_condition MONDO:0013341 infores:clingen HGNC:16692 MONDO:0013341 Definitive 2022-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d98515f5-4296-4d41-95a9-adac90c00349-2022-09-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4784 biolink:gene_associated_with_condition MONDO:0013885 infores:ubergraph knowledge_assertion manual_agent HGNC:7788 MONDO:0013885 NCBIGene:1855 biolink:gene_associated_with_condition MONDO:0014591 infores:ubergraph knowledge_assertion manual_agent HGNC:3084 MONDO:0014591 NCBIGene:23241 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:23794 MONDO:0100062 Definitive 2024-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec03c5b9-b82a-4a4e-a4f5-41dba55ac50f-2024-05-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:28952 biolink:gene_associated_with_condition MONDO:0010499 infores:clingen HGNC:28909 MONDO:0010499 Moderate 2023-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d62f7f8-4a91-4e0c-86b2-3f1d5d38d54b-2023-06-07T160000.000Z XL X-linked 0001417 NCBIGene:10765 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen NCBIGene:10765 MONDO:0001071 Moderate 2022-03-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2ae3441f-82f6-4985-ba48-fd1de8ea6ce4-2022-03-01T170000.000Z AR Autosomal Recessive 0000007 true Little evidence for dosage pathogenicity 1 NCBIGene:5610 biolink:gene_associated_with_condition MONDO:0030513 infores:ubergraph knowledge_assertion manual_agent HGNC:9437 MONDO:0030513 NCBIGene:3559 biolink:gene_associated_with_condition MONDO:0011168 infores:ubergraph knowledge_assertion manual_agent HGNC:6008 MONDO:0011168 NCBIGene:3145 biolink:gene_associated_with_condition MONDO:0008294 infores:ubergraph knowledge_assertion manual_agent HGNC:4982 MONDO:0008294 NCBIGene:2894 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2894 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:57498 biolink:gene_associated_with_condition MONDO:0859184 infores:ubergraph knowledge_assertion manual_agent HGNC:29508 MONDO:0859184 NCBIGene:5424 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5424 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:23036 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23036 MONDO:0700096 No evidence available 0 true NCBIGene:55835 biolink:gene_associated_with_condition MONDO:0012029 infores:ubergraph knowledge_assertion manual_agent HGNC:17272 MONDO:0012029 NCBIGene:57539 biolink:gene_associated_with_condition MONDO:0013569 infores:ubergraph knowledge_assertion manual_agent HGNC:29250 MONDO:0013569 NCBIGene:79934 biolink:gene_associated_with_condition MONDO:0014257 infores:ubergraph knowledge_assertion manual_agent HGNC:19041 MONDO:0014257 NCBIGene:5238 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5238 MONDO:0700096 No evidence available 0 true NCBIGene:5269 biolink:gene_associated_with_condition MONDO:0013269 infores:ubergraph knowledge_assertion manual_agent HGNC:8950 MONDO:0013269 NCBIGene:22900 biolink:gene_associated_with_condition MONDO:0033643 infores:ubergraph knowledge_assertion manual_agent HGNC:17057 MONDO:0033643 NCBIGene:5800 biolink:gene_associated_with_condition MONDO:0013619 infores:ubergraph knowledge_assertion manual_agent HGNC:9678 MONDO:0013619 NCBIGene:4575 biolink:gene_associated_with_condition MONDO:0800041 infores:ubergraph knowledge_assertion manual_agent HGNC:7498 MONDO:0800041 NCBIGene:5660 biolink:gene_associated_with_condition MONDO:0012719 infores:clingen HGNC:9498 MONDO:0012719 Definitive 2023-07-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb727feb-42ad-4035-868c-7a217da8e31f-2023-07-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:124512 biolink:gene_associated_with_condition MONDO:0014409 infores:ubergraph knowledge_assertion manual_agent HGNC:26988 MONDO:0014409 NCBIGene:3938 biolink:gene_associated_with_condition MONDO:0009115 infores:ubergraph knowledge_assertion manual_agent HGNC:6530 MONDO:0009115 NCBIGene:22926 biolink:gene_associated_with_condition MONDO:0018852 infores:clingen HGNC:791 MONDO:0018852 Strong 2016-11-16T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4842 AR Autosomal Recessive 0000007 NCBIGene:91851 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91851 MONDO:0700096 No evidence available 0 true NCBIGene:8878 biolink:gene_associated_with_condition MONDO:0014940 infores:ubergraph knowledge_assertion manual_agent HGNC:11280 MONDO:0014940 NCBIGene:55739 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25576 MONDO:0044970 Definitive 2024-02-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb15469f-f6a5-4f4e-b434-267c88c04fe3-2024-02-22T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6949 biolink:gene_associated_with_condition MONDO:0007944 infores:clingen NCBIGene:6949 MONDO:0007944 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4036 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4036 MONDO:0700096 No evidence available 0 true NCBIGene:153562 biolink:gene_associated_with_condition MONDO:0012420 infores:ubergraph knowledge_assertion manual_agent HGNC:26401 MONDO:0012420 NCBIGene:91574 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:26784 MONDO:0009723 Definitive 2021-04-01T17:45:00.572Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78f97463-d8b2-411a-9292-1908646dac77-2021-04-01T174500.572Z AR Autosomal Recessive 0000007 NCBIGene:100820829 biolink:gene_associated_with_condition MONDO:0971175 infores:ubergraph knowledge_assertion manual_agent HGNC:43444 MONDO:0971175 NCBIGene:7289 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:12425 MONDO:0005308 Strong 2022-07-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f45b6a3-7f38-436f-bfde-beac067fdb88-2022-07-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10133 biolink:gene_associated_with_condition MONDO:0013264 infores:ubergraph knowledge_assertion manual_agent HGNC:17142 MONDO:0013264 NCBIGene:79840 biolink:gene_associated_with_condition MONDO:0012650 infores:ubergraph knowledge_assertion manual_agent HGNC:25737 MONDO:0012650 NCBIGene:5250 biolink:gene_associated_with_condition MONDO:0012557 infores:ubergraph knowledge_assertion manual_agent HGNC:10989 MONDO:0012557 NCBIGene:2697 biolink:gene_associated_with_condition MONDO:0009035 infores:ubergraph knowledge_assertion manual_agent HGNC:4274 MONDO:0009035 NCBIGene:57148 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57148 MONDO:0700096 No evidence available 0 true NCBIGene:145226 biolink:gene_associated_with_condition MONDO:0800100 infores:clingen HGNC:19977 MONDO:0800100 Moderate 2023-03-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_958d5e41-ea0c-4497-af02-56d6ed3cd341-2023-03-02T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:9420 biolink:gene_associated_with_condition MONDO:0013439 infores:ubergraph knowledge_assertion manual_agent HGNC:2652 MONDO:0013439 NCBIGene:950 biolink:gene_associated_with_condition MONDO:0009699 infores:ubergraph knowledge_assertion manual_agent HGNC:1665 MONDO:0009699 NCBIGene:10324 biolink:gene_associated_with_condition MONDO:0014326 infores:ubergraph knowledge_assertion manual_agent HGNC:16905 MONDO:0014326 NCBIGene:55755 biolink:gene_associated_with_condition MONDO:0011488 infores:clingen NCBIGene:55755 MONDO:0011488 Gene associated with autosomal recessive phenotype 30 NCBIGene:4507 biolink:gene_associated_with_condition MONDO:0007205 infores:ubergraph knowledge_assertion manual_agent HGNC:7413 MONDO:0007205 NCBIGene:1399 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:2363 MONDO:0005453 No Known Disease Relationship 2023-10-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_453641ec-805e-4712-841d-a228b48f5cc4-2023-10-17T040000.000Z UD Undetermined Mode of Inheritance NCBIGene:83700 biolink:gene_associated_with_condition MONDO:0013394 infores:ubergraph knowledge_assertion manual_agent HGNC:15532 MONDO:0013394 NCBIGene:26058 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:26058 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:6598 biolink:gene_associated_with_condition MONDO:0013820 infores:ubergraph knowledge_assertion manual_agent HGNC:11103 MONDO:0013820 NCBIGene:6533 biolink:gene_associated_with_condition MONDO:0007777 infores:clingen HGNC:11052 MONDO:0007777 Limited 2023-03-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26addf7f-70f5-432d-abb1-0c21e297b0fd-2023-03-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:80216 biolink:gene_associated_with_condition MONDO:0013999 infores:ubergraph knowledge_assertion manual_agent HGNC:20917 MONDO:0013999 NCBIGene:1763 biolink:gene_associated_with_condition MONDO:0014062 infores:ubergraph knowledge_assertion manual_agent HGNC:2939 MONDO:0014062 NCBIGene:6555 biolink:gene_associated_with_condition MONDO:0013214 infores:ubergraph knowledge_assertion manual_agent HGNC:10906 MONDO:0013214 NCBIGene:3988 biolink:gene_associated_with_condition MONDO:0019149 infores:ubergraph knowledge_assertion manual_agent HGNC:6617 MONDO:0019149 NCBIGene:653361 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:653361 MONDO:0700096 No evidence available 0 true NCBIGene:389827 biolink:gene_associated_with_condition MONDO:0800437 infores:ubergraph knowledge_assertion manual_agent HGNC:33778 MONDO:0800437 NCBIGene:2348 biolink:gene_associated_with_condition MONDO:0013110 infores:clingen NCBIGene:2348 MONDO:0013110 Definitive 2017-10-20T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22c12588-dc55-4e90-827a-d7a6349e38a9-2017-10-20T100000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:659 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:1078 MONDO:0005453 Limited 2023-09-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b4322da-10a2-46c4-be0c-b5163ab5f401-2023-09-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84842 biolink:gene_associated_with_condition MONDO:0033614 infores:ubergraph knowledge_assertion manual_agent HGNC:28242 MONDO:0033614 NCBIGene:55213 biolink:gene_associated_with_condition MONDO:0014955 infores:ubergraph knowledge_assertion manual_agent HGNC:18243 MONDO:0014955 NCBIGene:2395 biolink:gene_associated_with_condition MONDO:0100340 infores:clingen NCBIGene:2395 MONDO:0100340 Gene associated with autosomal recessive phenotype 30 NCBIGene:30008 biolink:gene_associated_with_condition MONDO:0013754 infores:ubergraph knowledge_assertion manual_agent HGNC:3219 MONDO:0013754 NCBIGene:2302 biolink:gene_associated_with_condition MONDO:0032874 infores:ubergraph knowledge_assertion manual_agent HGNC:3816 MONDO:0032874 NCBIGene:8985 biolink:gene_associated_with_condition MONDO:0012892 infores:ubergraph knowledge_assertion manual_agent HGNC:9083 MONDO:0012892 NCBIGene:367 biolink:gene_associated_with_condition MONDO:0971170 infores:ubergraph knowledge_assertion manual_agent HGNC:644 MONDO:0971170 NCBIGene:4869 biolink:gene_associated_with_condition MONDO:0000159 infores:clingen HGNC:7910 MONDO:0000159 Limited 2025-04-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53473fb7-51bd-4ce9-b447-9113dfa8bb70-2025-04-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:713 biolink:gene_associated_with_condition MONDO:0958187 infores:ubergraph knowledge_assertion manual_agent HGNC:1242 MONDO:0958187 NCBIGene:5148 biolink:gene_associated_with_condition MONDO:1040034 infores:clingen HGNC:8789 MONDO:1040034 Definitive 2024-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5b69965-33e0-4a8c-b5dd-faede6c39912-2024-06-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4810 biolink:gene_associated_with_condition MONDO:0010545 infores:ubergraph knowledge_assertion manual_agent HGNC:7820 MONDO:0010545 NCBIGene:8710 biolink:gene_associated_with_condition MONDO:0014272 infores:clingen NCBIGene:8710 MONDO:0014272 Gene associated with autosomal recessive phenotype 30 NCBIGene:2176 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2176 MONDO:0700096 No evidence available 0 true NCBIGene:3094 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:4912 MONDO:0015626 Definitive 2021-03-22T20:11:09.360Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_170aae71-9b16-49b1-be29-44f98db2f72e-2021-03-22T201109.360Z AR Autosomal Recessive 0000007 NCBIGene:64581 biolink:gene_associated_with_condition MONDO:0013562 infores:ubergraph knowledge_assertion manual_agent HGNC:14558 MONDO:0013562 NCBIGene:10370 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10370 MONDO:0700096 No evidence available 0 true NCBIGene:4709 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:4709 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:374393 biolink:gene_associated_with_condition MONDO:0014310 infores:clingen HGNC:24200 MONDO:0014310 Moderate 2023-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d13f8dba-f9ae-42f3-a97a-dcc34b063e5b-2023-12-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:57211 biolink:gene_associated_with_condition MONDO:0014670 infores:ubergraph knowledge_assertion manual_agent HGNC:13841 MONDO:0014670 NCBIGene:547 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:888 MONDO:0000508 Definitive 2020-09-24T13:42:54.893Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d586d93-7066-4db0-b623-8b7e3eafdc06-2020-09-24T134254.893Z AD Autosomal Dominant 0000006 NCBIGene:2189 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2189 MONDO:0700096 No evidence available 0 true NCBIGene:9646 biolink:gene_associated_with_condition MONDO:1040006 infores:clingen HGNC:16850 MONDO:1040006 Moderate 2025-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d392f595-9554-4bf9-8dfa-2baa71280565-2025-03-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:131118 biolink:gene_associated_with_condition MONDO:0012435 infores:clingen HGNC:30528 MONDO:0012435 Definitive 2021-09-24T02:43:47.391Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa7f8087-632d-4044-9e20-722085c3b42c-2021-09-24T024347.391Z AR Autosomal Recessive 0000007 NCBIGene:51816 biolink:gene_associated_with_condition MONDO:0014306 infores:clingen NCBIGene:51816 MONDO:0014306 Gene associated with autosomal recessive phenotype 30 NCBIGene:9469 biolink:gene_associated_with_condition MONDO:0007738 infores:ubergraph knowledge_assertion manual_agent HGNC:1971 MONDO:0007738 NCBIGene:1180 biolink:gene_associated_with_condition MONDO:0009715 infores:ubergraph knowledge_assertion manual_agent HGNC:2019 MONDO:0009715 NCBIGene:84649 biolink:gene_associated_with_condition MONDO:0044625 infores:ubergraph knowledge_assertion manual_agent HGNC:16940 MONDO:0044625 NCBIGene:1593 biolink:gene_associated_with_condition MONDO:0008948 infores:ubergraph knowledge_assertion manual_agent HGNC:2605 MONDO:0008948 NCBIGene:6340 biolink:gene_associated_with_condition MONDO:0013112 infores:ubergraph knowledge_assertion manual_agent HGNC:10602 MONDO:0013112 NCBIGene:112744 biolink:gene_associated_with_condition MONDO:0013503 infores:ubergraph knowledge_assertion manual_agent HGNC:16404 MONDO:0013503 NCBIGene:3192 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:3192 MONDO:0100038 Definitive 2022-10-11T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2c82248-c128-4d3e-802a-7f3295d14455-2022-10-11T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4689 biolink:gene_associated_with_condition MONDO:0013507 infores:ubergraph knowledge_assertion manual_agent HGNC:7662 MONDO:0013507 NCBIGene:25914 biolink:gene_associated_with_condition MONDO:0013907 infores:clingen NCBIGene:25914 MONDO:0013907 Gene associated with autosomal recessive phenotype 30 NCBIGene:91754 biolink:gene_associated_with_condition MONDO:0014870 infores:ubergraph knowledge_assertion manual_agent HGNC:18591 MONDO:0014870 NCBIGene:763 biolink:gene_associated_with_condition MONDO:0014332 infores:ubergraph knowledge_assertion manual_agent HGNC:1377 MONDO:0014332 NCBIGene:7078 biolink:gene_associated_with_condition MONDO:0007640 infores:clingen HGNC:11822 MONDO:0007640 Definitive 2021-07-02T17:43:20.328Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8594a02c-c0f3-4542-b6d3-f089ba94417e-2021-07-02T174320.328Z AD Autosomal Dominant 0000006 NCBIGene:54205 biolink:gene_associated_with_condition MONDO:0012775 infores:ubergraph knowledge_assertion manual_agent HGNC:19986 MONDO:0012775 NCBIGene:10654 biolink:gene_associated_with_condition MONDO:0008290 infores:ubergraph knowledge_assertion manual_agent HGNC:9141 MONDO:0008290 NCBIGene:51199 biolink:gene_associated_with_condition MONDO:0013922 infores:ubergraph knowledge_assertion manual_agent HGNC:14906 MONDO:0013922 NCBIGene:2760 biolink:gene_associated_with_condition MONDO:0010099 infores:ubergraph knowledge_assertion manual_agent HGNC:4367 MONDO:0010099 NCBIGene:6891 biolink:gene_associated_with_condition MONDO:0011476 infores:clingen HGNC:44 MONDO:0011476 Strong 2024-02-06T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34f7639-eb52-4a29-90e0-27dbdaeec334-2024-02-06T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:4683 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4683 MONDO:0700096 No evidence available 0 true NCBIGene:10518 biolink:gene_associated_with_condition MONDO:0012273 infores:ubergraph knowledge_assertion manual_agent HGNC:24579 MONDO:0012273 NCBIGene:6536 biolink:gene_associated_with_condition MONDO:0015010 infores:ubergraph knowledge_assertion manual_agent HGNC:11056 MONDO:0015010 NCBIGene:54938 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:17697 MONDO:0044970 Moderate 2022-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d49e2a27-bd5f-4bc5-8d41-e3f0b4b043ad-2022-06-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6506 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6506 MONDO:0700096 No evidence available 0 true NCBIGene:153201 biolink:gene_associated_with_condition MONDO:0009448 infores:clingen HGNC:18762 MONDO:0009448 Limited 2024-04-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38341e13-b026-4a61-a049-5f7ef9df1805-2024-04-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0010654 infores:ubergraph knowledge_assertion manual_agent HGNC:18060 MONDO:0010654 NCBIGene:55636 biolink:gene_associated_with_condition MONDO:0012880 infores:ubergraph knowledge_assertion manual_agent HGNC:20626 MONDO:0012880 NCBIGene:54796 biolink:gene_associated_with_condition MONDO:0032833 infores:ubergraph knowledge_assertion manual_agent HGNC:30988 MONDO:0032833 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0013253 infores:ubergraph knowledge_assertion manual_agent HGNC:9820 MONDO:0013253 NCBIGene:392255 biolink:gene_associated_with_condition MONDO:0054752 infores:ubergraph knowledge_assertion manual_agent HGNC:4221 MONDO:0054752 NCBIGene:540 biolink:gene_associated_with_condition MONDO:0010200 infores:ubergraph knowledge_assertion manual_agent HGNC:870 MONDO:0010200 NCBIGene:4141 biolink:gene_associated_with_condition MONDO:0014206 infores:ubergraph knowledge_assertion manual_agent HGNC:6898 MONDO:0014206 NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0010437 infores:ubergraph knowledge_assertion manual_agent HGNC:8768 MONDO:0010437 NCBIGene:51804 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51804 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51053 biolink:gene_associated_with_condition MONDO:0014794 infores:clingen HGNC:17493 MONDO:0014794 Moderate 2024-12-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d7274f8-8ae0-4260-bea2-c2c590967785-2024-12-04T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:5888 biolink:gene_associated_with_condition MONDO:0014986 infores:ubergraph knowledge_assertion manual_agent HGNC:9817 MONDO:0014986 NCBIGene:7273 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:12403 MONDO:0016587 Disputed 2025-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a93ab74d-c9fa-4e74-b849-c8c6e8366050-2025-10-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5190 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:8859 MONDO:0019234 Definitive 2019-09-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54df6fb2-b692-4ece-a525-ae0cfe243826-2019-09-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5538 biolink:gene_associated_with_condition MONDO:0009744 infores:ubergraph knowledge_assertion manual_agent HGNC:9325 MONDO:0009744 NCBIGene:10084 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10084 MONDO:0700096 No evidence available 0 true NCBIGene:629 biolink:gene_associated_with_condition MONDO:0013042 infores:clingen HGNC:1037 MONDO:0013042 Moderate 2023-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee0e92dc-42db-450e-8e8d-804e5fb4eda8-2023-07-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:9414 biolink:gene_associated_with_condition MONDO:0014381 infores:clingen NCBIGene:9414 MONDO:0014381 Gene associated with autosomal recessive phenotype 30 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:3754 MONDO:0019625 Limited 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8274 XL X-linked 0001417 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:10593 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53c90d2e-4d40-48ab-8761-b0158102c977-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:843 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:843 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:8838 biolink:gene_associated_with_condition MONDO:0008827 infores:ubergraph knowledge_assertion manual_agent HGNC:12771 MONDO:0008827 NCBIGene:6391 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10682 MONDO:0044970 No Known Disease Relationship 2022-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_909982e0-a53c-4a87-bf28-cdb563c8ae62-2022-03-07T170000.000Z UD Undetermined Mode of Inheritance NCBIGene:340533 biolink:gene_associated_with_condition MONDO:0010483 infores:clingen NCBIGene:340533 MONDO:0010483 Sufficient evidence for dosage pathogenicity 3 NCBIGene:11338 biolink:gene_associated_with_condition MONDO:0957810 infores:ubergraph knowledge_assertion manual_agent HGNC:23156 MONDO:0957810 NCBIGene:79751 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:19954 MONDO:0100062 Definitive 2020-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9a7ba06-6ddf-4a94-a0df-0b6c164f72b9-2020-05-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1387 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1387 MONDO:0700096 No evidence available 0 true NCBIGene:2671 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:4236 MONDO:0044970 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_494b0327-da1a-4b06-9563-2b846ce561a3-2023-09-28T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:4329 biolink:gene_associated_with_condition MONDO:0013579 infores:ubergraph knowledge_assertion manual_agent HGNC:7179 MONDO:0013579 NCBIGene:55621 biolink:gene_associated_with_condition MONDO:0032665 infores:ubergraph knowledge_assertion manual_agent HGNC:25980 MONDO:0032665 NCBIGene:8309 biolink:gene_associated_with_condition MONDO:0015015 infores:clingen HGNC:120 MONDO:0015015 Definitive 2024-07-25T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5627eadb-12f9-4768-915c-3da73c425650-2024-07-25T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:2302 biolink:gene_associated_with_condition MONDO:0032874 infores:clingen HGNC:3816 MONDO:0032874 Definitive 2025-10-17T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53a48f3c-42fc-4c60-becb-149019b1e4bf-2025-10-17T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:5318 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen NCBIGene:5318 MONDO:0016587 Definitive 2018-03-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f97b6cd-5225-4076-b67a-2f609908e6fe-2018-03-08T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7915 biolink:gene_associated_with_condition MONDO:0010083 infores:clingen NCBIGene:7915 MONDO:0010083 Definitive 2021-04-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3e57466-df2f-4045-b374-010dbd334bfc-2021-04-27T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:53 biolink:gene_associated_with_condition MONDO:0008705 infores:ubergraph knowledge_assertion manual_agent HGNC:123 MONDO:0008705 NCBIGene:11284 biolink:gene_associated_with_condition MONDO:0013254 infores:clingen HGNC:9154 MONDO:0013254 Definitive 2020-04-17T16:53:04.309Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_901a984a-c678-4f35-81c2-9436785d3698-2020-04-17T165304.309Z AR Autosomal Recessive 0000007 NCBIGene:1857 biolink:gene_associated_with_condition MONDO:0014819 infores:ubergraph knowledge_assertion manual_agent HGNC:3087 MONDO:0014819 NCBIGene:114803 biolink:gene_associated_with_condition MONDO:0033683 infores:ubergraph knowledge_assertion manual_agent HGNC:29401 MONDO:0033683 NCBIGene:644 biolink:gene_associated_with_condition MONDO:0013595 infores:clingen HGNC:1062 MONDO:0013595 Moderate 2025-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de6e575f-6a04-45fb-a9b5-0b21c9e6a7a8-2025-01-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23639 biolink:gene_associated_with_condition MONDO:0013979 infores:clingen NCBIGene:23639 MONDO:0013979 Definitive 2023-06-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7063ef1e-8ce2-4f35-a765-f08efc2e541a-2023-06-08T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1293 biolink:gene_associated_with_condition MONDO:0014627 infores:ubergraph knowledge_assertion manual_agent HGNC:2213 MONDO:0014627 NCBIGene:121512 biolink:gene_associated_with_condition MONDO:0012250 infores:clingen NCBIGene:121512 MONDO:0012250 Gene associated with autosomal recessive phenotype 30 NCBIGene:64240 biolink:gene_associated_with_condition MONDO:0020748 infores:ubergraph knowledge_assertion manual_agent HGNC:13886 MONDO:0020748 NCBIGene:84679 biolink:gene_associated_with_condition MONDO:0026723 infores:ubergraph knowledge_assertion manual_agent HGNC:17123 MONDO:0026723 NCBIGene:23064 biolink:gene_associated_with_condition MONDO:0018996 infores:ubergraph knowledge_assertion manual_agent HGNC:445 MONDO:0018996 NCBIGene:85465 biolink:gene_associated_with_condition MONDO:0032905 infores:ubergraph knowledge_assertion manual_agent HGNC:29361 MONDO:0032905 NCBIGene:5500 biolink:gene_associated_with_condition MONDO:0054588 infores:ubergraph knowledge_assertion manual_agent HGNC:9282 MONDO:0054588 NCBIGene:22995 biolink:gene_associated_with_condition MONDO:0013443 infores:ubergraph knowledge_assertion manual_agent HGNC:29298 MONDO:0013443 NCBIGene:1781 biolink:gene_associated_with_condition MONDO:0032779 infores:ubergraph knowledge_assertion manual_agent HGNC:2964 MONDO:0032779 NCBIGene:50805 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:6129 MONDO:0005453 Limited 2023-12-11T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b47ed2a6-3cc3-4ec4-9d92-36b8db66cc10-2023-12-11T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:4891 biolink:gene_associated_with_condition MONDO:0008787 infores:ubergraph knowledge_assertion manual_agent HGNC:10908 MONDO:0008787 NCBIGene:190 biolink:gene_associated_with_condition MONDO:0010264 infores:clingen NCBIGene:190 MONDO:0010264 Sufficient evidence for dosage pathogenicity 3 NCBIGene:139285 biolink:gene_associated_with_condition MONDO:0010310 infores:ubergraph knowledge_assertion manual_agent HGNC:26837 MONDO:0010310 NCBIGene:1643 biolink:gene_associated_with_condition MONDO:0010213 infores:clingen NCBIGene:1643 MONDO:0010213 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf2a4254-51ec-467a-9194-3962d39a6b20-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1029 biolink:gene_associated_with_condition MONDO:0011713 infores:clingen HGNC:1787 MONDO:0011713 Definitive 2019-08-14T19:45:47.089Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0d2fc0-12b2-4855-b537-60394d0987dd-2019-08-14T194547.089Z AD Autosomal Dominant 0000006 NCBIGene:255738 biolink:gene_associated_with_condition MONDO:0011369 infores:ubergraph knowledge_assertion manual_agent HGNC:20001 MONDO:0011369 NCBIGene:7007 biolink:gene_associated_with_condition MONDO:0011351 infores:clingen NCBIGene:7007 MONDO:0011351 Gene associated with autosomal recessive phenotype 30 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0100097 infores:ubergraph knowledge_assertion manual_agent HGNC:11603 MONDO:0100097 NCBIGene:5981 biolink:gene_associated_with_condition MONDO:0044720 infores:ubergraph knowledge_assertion manual_agent HGNC:9969 MONDO:0044720 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0007287 infores:ubergraph knowledge_assertion manual_agent HGNC:12762 MONDO:0007287 NCBIGene:10309 biolink:gene_associated_with_condition MONDO:0014378 infores:clingen HGNC:18576 MONDO:0014378 Definitive 2022-08-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20a78ac7-91a7-44a6-b42e-22611de2d170-2022-08-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:585 biolink:gene_associated_with_condition MONDO:0014433 infores:ubergraph knowledge_assertion manual_agent HGNC:969 MONDO:0014433 NCBIGene:2760 biolink:gene_associated_with_condition MONDO:0010099 infores:clingen HGNC:4367 MONDO:0010099 Definitive 2022-08-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c793bd3-8433-4632-a571-a3fc07e84c10-2022-08-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5274 biolink:gene_associated_with_condition MONDO:0011412 infores:ubergraph knowledge_assertion manual_agent HGNC:8943 MONDO:0011412 NCBIGene:72 biolink:gene_associated_with_condition MONDO:0020754 infores:ubergraph knowledge_assertion manual_agent HGNC:145 MONDO:0020754 NCBIGene:5605 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:6842 MONDO:0015280 Definitive 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7765e2a4-19e4-4b15-9233-4847606fc501-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0013276 infores:ubergraph knowledge_assertion manual_agent HGNC:6518 MONDO:0013276 NCBIGene:5959 biolink:gene_associated_with_condition MONDO:0100443 infores:ubergraph knowledge_assertion manual_agent HGNC:9940 MONDO:0100443 NCBIGene:7048 biolink:gene_associated_with_condition MONDO:0013695 infores:ubergraph knowledge_assertion manual_agent HGNC:11773 MONDO:0013695 NCBIGene:2157 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2157 MONDO:0700096 No evidence available 0 true NCBIGene:84100 biolink:gene_associated_with_condition MONDO:1040065 infores:ubergraph knowledge_assertion manual_agent HGNC:13210 MONDO:1040065 NCBIGene:3476 biolink:gene_associated_with_condition MONDO:0010333 infores:clingen HGNC:5461 MONDO:0010333 Disputed 2021-02-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbeb1651-add0-4a44-87ad-a56c7864f076-2021-02-02T170000.000Z XL X-linked 0001417 NCBIGene:6448 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6448 MONDO:0700096 No evidence available 0 true NCBIGene:5048 biolink:gene_associated_with_condition MONDO:0015146 infores:clingen NCBIGene:5048 MONDO:0015146 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5528 biolink:gene_associated_with_condition MONDO:0014602 infores:clingen NCBIGene:5528 MONDO:0014602 true Little evidence for dosage pathogenicity 1 NCBIGene:5091 biolink:gene_associated_with_condition MONDO:0009949 infores:clingen NCBIGene:5091 MONDO:0009949 Gene associated with autosomal recessive phenotype 30 NCBIGene:11117 biolink:gene_associated_with_condition MONDO:0859300 infores:ubergraph knowledge_assertion manual_agent HGNC:19880 MONDO:0859300 NCBIGene:1717 biolink:gene_associated_with_condition MONDO:0010035 infores:ubergraph knowledge_assertion manual_agent HGNC:2860 MONDO:0010035 NCBIGene:51102 biolink:gene_associated_with_condition MONDO:0015003 infores:ubergraph knowledge_assertion manual_agent HGNC:19691 MONDO:0015003 NCBIGene:4313 biolink:gene_associated_with_condition MONDO:0009809 infores:ubergraph knowledge_assertion manual_agent HGNC:7166 MONDO:0009809 NCBIGene:8777 biolink:gene_associated_with_condition MONDO:0014085 infores:ubergraph knowledge_assertion manual_agent HGNC:7208 MONDO:0014085 NCBIGene:1369 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1369 MONDO:0700096 No evidence available 0 true NCBIGene:11141 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:5996 MONDO:0019181 Definitive 2017-12-30T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b5db6b4-94fa-46d1-88a7-bbf382f3a1c6-2017-12-30T110000.000Z XL X-linked 0001417 NCBIGene:1936 biolink:gene_associated_with_condition MONDO:0976263 infores:ubergraph knowledge_assertion manual_agent HGNC:3211 MONDO:0976263 NCBIGene:1186 biolink:gene_associated_with_condition MONDO:0032805 infores:clingen HGNC:2025 MONDO:0032805 Moderate 2023-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e47aa25-2107-4e36-8fa8-f9e81eb9de69-2023-12-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23431 biolink:gene_associated_with_condition MONDO:0013401 infores:ubergraph knowledge_assertion manual_agent HGNC:573 MONDO:0013401 NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:10484 MONDO:0005021 Limited 2025-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b35e4dc8-c7d6-4c20-995f-0b1f4508ee3d-2025-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6599 biolink:gene_associated_with_condition MONDO:0700123 infores:ubergraph knowledge_assertion manual_agent HGNC:11104 MONDO:0700123 NCBIGene:246176 biolink:gene_associated_with_condition MONDO:0032757 infores:clingen HGNC:24846 MONDO:0032757 Moderate 2023-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91afae37-4cfc-4aeb-af0f-26a9596611f3-2023-09-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:65260 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25716 MONDO:0044970 Definitive 2024-08-22T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_971c1202-83cf-4ad1-9404-c4ef2fcf0880-2024-08-22T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:9411 biolink:gene_associated_with_condition MONDO:0000358 infores:clingen HGNC:30207 MONDO:0000358 Definitive 2024-08-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48ab3875-5bae-4b9c-8744-8ff16e4903ee-2024-08-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8863 biolink:gene_associated_with_condition MONDO:0014814 infores:ubergraph knowledge_assertion manual_agent HGNC:8847 MONDO:0014814 NCBIGene:8799 biolink:gene_associated_with_condition MONDO:0100279 infores:ubergraph knowledge_assertion manual_agent HGNC:8853 MONDO:0100279 NCBIGene:4640 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7595 MONDO:0019497 Refuted 2018-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dcc24f7-4cf7-413b-a956-16ad58bcbd36-2018-01-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3454 biolink:gene_associated_with_condition MONDO:0030970 infores:ubergraph knowledge_assertion manual_agent HGNC:5432 MONDO:0030970 NCBIGene:1729 biolink:gene_associated_with_condition MONDO:0007424 infores:ubergraph knowledge_assertion manual_agent HGNC:2876 MONDO:0007424 NCBIGene:7700 biolink:gene_associated_with_condition MONDO:0014090 infores:ubergraph knowledge_assertion manual_agent HGNC:12926 MONDO:0014090 NCBIGene:2056 biolink:gene_associated_with_condition MONDO:0033483 infores:ubergraph knowledge_assertion manual_agent HGNC:3415 MONDO:0033483 NCBIGene:65018 biolink:gene_associated_with_condition MONDO:0011613 infores:ubergraph knowledge_assertion manual_agent HGNC:14581 MONDO:0011613 NCBIGene:6329 biolink:gene_associated_with_condition MONDO:0100121 infores:ubergraph knowledge_assertion manual_agent HGNC:10591 MONDO:0100121 NCBIGene:9394 biolink:gene_associated_with_condition MONDO:0013946 infores:ubergraph knowledge_assertion manual_agent HGNC:5201 MONDO:0013946 NCBIGene:4297 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4297 MONDO:0700096 No evidence available 0 true NCBIGene:50940 biolink:gene_associated_with_condition MONDO:0012505 infores:ubergraph knowledge_assertion manual_agent HGNC:8773 MONDO:0012505 NCBIGene:2006 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2006 MONDO:0700096 No evidence available 0 true NCBIGene:5626 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5626 MONDO:0700096 No evidence available 0 true NCBIGene:57282 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:57282 MONDO:0100038 Strong 2024-12-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fe612c6-134c-43ef-b3b5-bb1bd66b4d70-2024-12-17T170000.000Z AR Autosomal Recessive 0000007 true Little evidence for dosage pathogenicity 1 NCBIGene:6557 biolink:gene_associated_with_condition MONDO:0100344 infores:clingen NCBIGene:6557 MONDO:0100344 Gene associated with autosomal recessive phenotype 30 NCBIGene:5159 biolink:gene_associated_with_condition MONDO:0009227 infores:ubergraph knowledge_assertion manual_agent HGNC:8804 MONDO:0009227 NCBIGene:6554 biolink:gene_associated_with_condition MONDO:0031003 infores:ubergraph knowledge_assertion manual_agent HGNC:10905 MONDO:0031003 NCBIGene:3207 biolink:gene_associated_with_condition MONDO:0024558 infores:clingen HGNC:5101 MONDO:0024558 Limited 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48ef111f-28fc-4970-a0ca-8387e9ec2d0e-2024-09-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51305 biolink:gene_associated_with_condition MONDO:0012856 infores:ubergraph knowledge_assertion manual_agent HGNC:6283 MONDO:0012856 NCBIGene:55780 biolink:gene_associated_with_condition MONDO:0014240 infores:ubergraph knowledge_assertion manual_agent HGNC:21056 MONDO:0014240 NCBIGene:3508 biolink:gene_associated_with_condition MONDO:0014511 infores:ubergraph knowledge_assertion manual_agent HGNC:5542 MONDO:0014511 NCBIGene:57468 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:13818 MONDO:0100062 Limited 2023-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_768a3318-a75d-412a-91e6-78d51609ac3e-2023-03-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4952 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4952 MONDO:0700096 No evidence available 0 true NCBIGene:4508 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7414 MONDO:0044970 Definitive 2023-05-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d7b0569-8dfe-40cf-a83b-44071430206f-2023-05-18T160000.000Z MT Mitochondrial 0001427 NCBIGene:6197 biolink:gene_associated_with_condition MONDO:0010561 infores:clingen NCBIGene:6197 MONDO:0010561 Definitive 2019-05-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af32a931-1d55-432f-82cf-ce87f6c26580-2019-05-28T040000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4519 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7427 MONDO:0044970 Definitive 2024-03-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ee50909-c576-4998-81bc-09980529cbb2-2024-03-04T170000.000Z MT Mitochondrial 0001427 NCBIGene:79770 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:20652 MONDO:0005308 Strong 2024-09-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0aa4b86a-ebc7-4338-8ac7-58523499137a-2024-09-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2997 biolink:gene_associated_with_condition MONDO:0012693 infores:ubergraph knowledge_assertion manual_agent HGNC:4706 MONDO:0012693 NCBIGene:3239 biolink:gene_associated_with_condition MONDO:0008513 infores:ubergraph knowledge_assertion manual_agent HGNC:5136 MONDO:0008513 NCBIGene:1062 biolink:gene_associated_with_condition MONDO:0014473 infores:ubergraph knowledge_assertion manual_agent HGNC:1856 MONDO:0014473 NCBIGene:100288687 biolink:gene_associated_with_condition MONDO:0030355 infores:ubergraph knowledge_assertion manual_agent HGNC:50800 MONDO:0030355 NCBIGene:6326 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6326 MONDO:0700096 No evidence available 0 true NCBIGene:124454 biolink:gene_associated_with_condition MONDO:0013971 infores:ubergraph knowledge_assertion manual_agent HGNC:29419 MONDO:0013971 NCBIGene:131669 biolink:gene_associated_with_condition MONDO:0010167 infores:ubergraph knowledge_assertion manual_agent HGNC:26444 MONDO:0010167 NCBIGene:23554 biolink:gene_associated_with_condition MONDO:0100484 infores:ubergraph knowledge_assertion manual_agent HGNC:21641 MONDO:0100484 NCBIGene:5340 biolink:gene_associated_with_condition MONDO:0035220 infores:ubergraph knowledge_assertion manual_agent HGNC:9071 MONDO:0035220 NCBIGene:2517 biolink:gene_associated_with_condition MONDO:0009254 infores:clingen HGNC:4006 MONDO:0009254 Definitive 2022-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e88e0ef6-e788-40e2-bbd4-7fb3efb6b0ea-2022-08-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:60509 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:26147 MONDO:0019118 Definitive 2025-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb9b01dc-10a2-4307-8b51-e956f71c4b65-2025-05-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26278 biolink:gene_associated_with_condition MONDO:0010041 infores:clingen NCBIGene:26278 MONDO:0010041 Gene associated with autosomal recessive phenotype 30 NCBIGene:29926 biolink:gene_associated_with_condition MONDO:0014219 infores:ubergraph knowledge_assertion manual_agent HGNC:22923 MONDO:0014219 NCBIGene:137682 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:28625 MONDO:0009723 Definitive 2020-11-23T19:42:12.660Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7b6ace1-5b89-41c7-83a6-d6f37826d8c5-2020-11-23T194212.660Z AR Autosomal Recessive 0000007 NCBIGene:254528 biolink:gene_associated_with_condition MONDO:0958035 infores:ubergraph knowledge_assertion manual_agent HGNC:28569 MONDO:0958035 NCBIGene:763 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:763 MONDO:0700096 No evidence available 0 true NCBIGene:5195 biolink:gene_associated_with_condition MONDO:0013952 infores:clingen NCBIGene:5195 MONDO:0013952 Gene associated with autosomal recessive phenotype 30 NCBIGene:9077 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9077 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4047 biolink:gene_associated_with_condition MONDO:0014673 infores:ubergraph knowledge_assertion manual_agent HGNC:6708 MONDO:0014673 NCBIGene:10021 biolink:gene_associated_with_condition MONDO:0013148 infores:ubergraph knowledge_assertion manual_agent HGNC:16882 MONDO:0013148 NCBIGene:6218 biolink:gene_associated_with_condition MONDO:0012924 infores:clingen NCBIGene:6218 MONDO:0012924 Sufficient evidence for dosage pathogenicity 3 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:1390 MONDO:0015263 Disputed 2025-02-25T01:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d869dbe-c00c-4875-93c8-80ba0436b895-2025-02-25T010000.000Z AD Autosomal Dominant 0000006 NCBIGene:823 biolink:gene_associated_with_condition MONDO:0014827 infores:ubergraph knowledge_assertion manual_agent HGNC:1476 MONDO:0014827 NCBIGene:29893 biolink:gene_associated_with_condition MONDO:0013689 infores:ubergraph knowledge_assertion manual_agent HGNC:17928 MONDO:0013689 NCBIGene:4547 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4547 MONDO:0700096 No evidence available 0 true NCBIGene:113457 biolink:gene_associated_with_condition MONDO:0054771 infores:ubergraph knowledge_assertion manual_agent HGNC:24071 MONDO:0054771 NCBIGene:54543 biolink:gene_associated_with_condition MONDO:0957953 infores:ubergraph knowledge_assertion manual_agent HGNC:21648 MONDO:0957953 NCBIGene:1589 biolink:gene_associated_with_condition MONDO:0008728 infores:clingen NCBIGene:1589 MONDO:0008728 Gene associated with autosomal recessive phenotype 30 NCBIGene:4629 biolink:gene_associated_with_condition MONDO:0025708 infores:ubergraph knowledge_assertion manual_agent HGNC:7569 MONDO:0025708 NCBIGene:5075 biolink:gene_associated_with_condition MONDO:0014254 infores:clingen NCBIGene:5075 MONDO:0014254 Definitive 2023-11-16T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29856f7d-7c10-48cc-a74f-b014c56c4f0c-2023-11-16T180000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1716 biolink:gene_associated_with_condition MONDO:8000013 infores:ubergraph knowledge_assertion manual_agent HGNC:2858 MONDO:8000013 NCBIGene:9997 biolink:gene_associated_with_condition MONDO:0011451 infores:ubergraph knowledge_assertion manual_agent HGNC:10604 MONDO:0011451 NCBIGene:56916 biolink:gene_associated_with_condition MONDO:0007619 infores:ubergraph knowledge_assertion manual_agent HGNC:18398 MONDO:0007619 NCBIGene:3854 biolink:gene_associated_with_condition MONDO:0014325 infores:ubergraph knowledge_assertion manual_agent HGNC:6444 MONDO:0014325 NCBIGene:5663 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:9508 MONDO:0005021 Disputed 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71e8591-dece-4855-ae6c-d43e20cbf836-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10058 biolink:gene_associated_with_condition MONDO:0012204 infores:ubergraph knowledge_assertion manual_agent HGNC:47 MONDO:0012204 NCBIGene:7156 biolink:gene_associated_with_condition MONDO:0020628 infores:ubergraph knowledge_assertion manual_agent HGNC:11992 MONDO:0020628 NCBIGene:2120 biolink:gene_associated_with_condition MONDO:0014536 infores:clingen NCBIGene:2120 MONDO:0014536 Definitive 2020-01-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92a8c1cb-91c1-45cd-adbe-4180b1f6da7d-2020-01-22T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7080 biolink:gene_associated_with_condition MONDO:0100520 infores:clingen HGNC:11825 MONDO:0100520 Definitive 2023-07-27T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c584f6b9-ce28-4020-b34f-5d63a70a249b-2023-07-27T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:372 biolink:gene_associated_with_condition MONDO:0014948 infores:clingen NCBIGene:372 MONDO:0014948 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5158 biolink:gene_associated_with_condition MONDO:0013429 infores:ubergraph knowledge_assertion manual_agent HGNC:8786 MONDO:0013429 NCBIGene:1773 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1773 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:10735 biolink:gene_associated_with_condition MONDO:0026722 infores:ubergraph knowledge_assertion manual_agent HGNC:11355 MONDO:0026722 NCBIGene:5813 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5813 MONDO:0700096 No evidence available 0 true NCBIGene:3373 biolink:gene_associated_with_condition MONDO:0011093 infores:clingen HGNC:5320 MONDO:0011093 Moderate 2025-09-12T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01141943-dabb-4218-a147-657c69679ec3-2025-09-12T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5048 biolink:gene_associated_with_condition MONDO:0011830 infores:ubergraph knowledge_assertion manual_agent HGNC:8574 MONDO:0011830 NCBIGene:5573 biolink:gene_associated_with_condition MONDO:0008057 infores:clingen NCBIGene:5573 MONDO:0008057 Definitive 2018-12-21T15:40:44.801Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc16b2a9-c8dc-4a04-a029-2f6af049404d-2018-12-21T154044.801Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2937 biolink:gene_associated_with_condition MONDO:0009947 infores:ubergraph knowledge_assertion manual_agent HGNC:4624 MONDO:0009947 NCBIGene:917 biolink:gene_associated_with_condition MONDO:0014276 infores:ubergraph knowledge_assertion manual_agent HGNC:1675 MONDO:0014276 NCBIGene:9915 biolink:gene_associated_with_condition MONDO:0014404 infores:ubergraph knowledge_assertion manual_agent HGNC:16876 MONDO:0014404 NCBIGene:192666 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:192666 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:6261 biolink:gene_associated_with_condition MONDO:0100150 infores:ubergraph knowledge_assertion manual_agent HGNC:10483 MONDO:0100150 NCBIGene:57449 biolink:gene_associated_with_condition MONDO:0014154 infores:clingen NCBIGene:57449 MONDO:0014154 Gene associated with autosomal recessive phenotype 30 NCBIGene:57459 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57459 MONDO:0700096 No evidence available 0 true NCBIGene:8818 biolink:gene_associated_with_condition MONDO:0014023 infores:clingen HGNC:3006 MONDO:0014023 Moderate 2024-03-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a5c5381-1dba-4c06-803b-4c40f9da85d6-2024-03-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:284058 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:284058 MONDO:0700096 No evidence available 0 true NCBIGene:1135 biolink:gene_associated_with_condition MONDO:0000030 infores:clingen HGNC:1956 MONDO:0000030 Limited 2020-12-25T01:56:52.186Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f832b8a-af5a-494e-bfdb-70cc619addf1-2020-12-25T015652.186Z AD Autosomal Dominant 0000006 NCBIGene:55023 biolink:gene_associated_with_condition MONDO:0035133 infores:clingen NCBIGene:55023 MONDO:0035133 Definitive 2022-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0635f61b-d8aa-428a-b4d3-0b2d116ece39-2022-04-19T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1380 biolink:gene_associated_with_condition MONDO:0012584 infores:ubergraph knowledge_assertion manual_agent HGNC:2336 MONDO:0012584 NCBIGene:6938 biolink:gene_associated_with_condition MONDO:0014128 infores:ubergraph knowledge_assertion manual_agent HGNC:11623 MONDO:0014128 NCBIGene:6224 biolink:gene_associated_with_condition MONDO:0005835 infores:clingen HGNC:10405 MONDO:0005835 Limited 2024-03-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_258ec9c5-12bb-4d8b-9bc2-d5747b52660c-2024-03-22T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84274 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:28722 MONDO:0044970 Moderate 2024-07-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b9c2846-d034-46f4-87ba-525bed7efe9c-2024-07-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:254528 biolink:gene_associated_with_condition MONDO:0054726 infores:ubergraph knowledge_assertion manual_agent HGNC:28569 MONDO:0054726 NCBIGene:54888 biolink:gene_associated_with_condition MONDO:0021060 infores:clingen HGNC:25994 MONDO:0021060 Disputed 2019-02-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442d764-3ff8-41f4-984d-776254226b05-2019-02-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8838 biolink:gene_associated_with_condition MONDO:0008827 infores:clingen NCBIGene:8838 MONDO:0008827 Definitive 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_915a010c-e5d0-4a56-b7b7-f9c8acc4f6f0-2024-09-04T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10262 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10262 MONDO:0700096 No evidence available 0 true NCBIGene:8314 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8314 MONDO:0700096 No evidence available 0 true NCBIGene:27249 biolink:gene_associated_with_condition MONDO:0010185 infores:clingen NCBIGene:27249 MONDO:0010185 Gene associated with autosomal recessive phenotype 30 NCBIGene:1376 biolink:gene_associated_with_condition MONDO:0009704 infores:ubergraph knowledge_assertion manual_agent HGNC:2330 MONDO:0009704 NCBIGene:6487 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:10866 MONDO:0100038 Moderate 2020-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e151129d-46fc-4f7e-a434-e423a3fb644b-2020-06-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51715 biolink:gene_associated_with_condition MONDO:0008710 infores:clingen HGNC:14263 MONDO:0008710 Definitive 2021-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_46756b21-4bb5-4384-a42c-cf10c76e98c8-2021-04-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:147872 biolink:gene_associated_with_condition MONDO:0957821 infores:ubergraph knowledge_assertion manual_agent HGNC:26520 MONDO:0957821 NCBIGene:9928 biolink:gene_associated_with_condition MONDO:0054761 infores:ubergraph knowledge_assertion manual_agent HGNC:19181 MONDO:0054761 NCBIGene:7293 biolink:gene_associated_with_condition MONDO:0014268 infores:ubergraph knowledge_assertion manual_agent HGNC:11918 MONDO:0014268 NCBIGene:4714 biolink:gene_associated_with_condition MONDO:0032635 infores:ubergraph knowledge_assertion manual_agent HGNC:7703 MONDO:0032635 NCBIGene:55777 biolink:gene_associated_with_condition MONDO:0007974 infores:ubergraph knowledge_assertion manual_agent HGNC:20444 MONDO:0007974 NCBIGene:8382 biolink:gene_associated_with_condition MONDO:0031054 infores:clingen HGNC:7853 MONDO:0031054 Moderate 2024-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00efe110-5916-4da0-92ac-cee8c8b18140-2024-02-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51428 biolink:gene_associated_with_condition MONDO:0014809 infores:clingen NCBIGene:51428 MONDO:0014809 Definitive 2020-07-30T20:29:35.621Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3db8214-a39d-408d-a3c2-7b4e817b1cc1-2020-07-30T202935.621Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8815 biolink:gene_associated_with_condition MONDO:0013523 infores:clingen HGNC:17397 MONDO:0013523 Limited 2024-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e2059e5-b7a5-42fe-93b7-182982608431-2024-04-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1258 biolink:gene_associated_with_condition MONDO:0800403 infores:ubergraph knowledge_assertion manual_agent HGNC:2151 MONDO:0800403 NCBIGene:80185 biolink:gene_associated_with_condition MONDO:0014238 infores:ubergraph knowledge_assertion manual_agent HGNC:26262 MONDO:0014238 NCBIGene:4088 biolink:gene_associated_with_condition MONDO:0013426 infores:ubergraph knowledge_assertion manual_agent HGNC:6769 MONDO:0013426 NCBIGene:79087 biolink:gene_associated_with_condition MONDO:0011783 infores:clingen NCBIGene:79087 MONDO:0011783 Definitive 2023-02-15T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21631e85-8133-4703-a77c-c046effb6e56-2023-02-15T200000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:26119 biolink:gene_associated_with_condition MONDO:0011374 infores:clingen HGNC:18640 MONDO:0011374 Definitive 2022-09-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ade5ed9-10e4-44f4-b02e-cc17ba68f1ab-2022-09-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6786 biolink:gene_associated_with_condition MONDO:0008497 infores:ubergraph knowledge_assertion manual_agent HGNC:11386 MONDO:0008497 NCBIGene:7051 biolink:gene_associated_with_condition MONDO:0009441 infores:clingen NCBIGene:7051 MONDO:0009441 Gene associated with autosomal recessive phenotype 30 NCBIGene:23001 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:20751 MONDO:0000508 Definitive 2022-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9300a41-dcac-4842-855d-01804e18d599-2022-01-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:91179 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91179 MONDO:0700096 No evidence available 0 true NCBIGene:6496 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6496 MONDO:0700096 No evidence available 0 true NCBIGene:84101 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:20064 MONDO:0005453 Limited 2024-10-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e8a9135-a29a-4bff-be2b-84c01e104021-2024-10-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55180 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55180 MONDO:0700096 No evidence available 0 true NCBIGene:7403 biolink:gene_associated_with_condition MONDO:0010465 infores:ubergraph knowledge_assertion manual_agent HGNC:12637 MONDO:0010465 NCBIGene:3184 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:5036 MONDO:0100038 Definitive 2025-10-17T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62010463-fbc6-4820-92d7-711d6eb0a6ca-2025-10-17T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:79791 biolink:gene_associated_with_condition MONDO:0014430 infores:ubergraph knowledge_assertion manual_agent HGNC:16510 MONDO:0014430 NCBIGene:7486 biolink:gene_associated_with_condition MONDO:0010196 infores:ubergraph knowledge_assertion manual_agent HGNC:12791 MONDO:0010196 NCBIGene:6495 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6495 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4578 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7501 MONDO:0044970 Definitive 2023-05-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bdbd98-2ffd-4b0f-8d97-b1d89a4a2b61-2023-05-03T160000.000Z MT Mitochondrial 0001427 NCBIGene:29978 biolink:gene_associated_with_condition MONDO:0010459 infores:clingen HGNC:12509 MONDO:0010459 Definitive 2021-04-13T19:46:34.543Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17c06f6e-6fe1-4a61-bc35-026416e31dbb-2021-04-13T194634.543Z XL X-linked 0001417 NCBIGene:5293 biolink:gene_associated_with_condition MONDO:0023655 infores:clingen HGNC:8977 MONDO:0023655 Definitive 2022-04-19T19:25:58.184Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00e2cc94-311b-44d8-9c41-e41c12ebd8f2-2022-04-19T192558.184Z AR Autosomal Recessive 0000007 NCBIGene:54800 biolink:gene_associated_with_condition MONDO:0015006 infores:ubergraph knowledge_assertion manual_agent HGNC:25947 MONDO:0015006 NCBIGene:8328 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8328 MONDO:0700096 No evidence available 0 true NCBIGene:92345 biolink:gene_associated_with_condition MONDO:0000148 infores:clingen NCBIGene:92345 MONDO:0000148 true Little evidence for dosage pathogenicity 1 NCBIGene:5046 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:8569 MONDO:0005453 No Known Disease Relationship 2024-05-13T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0c9c7d3-5568-46c1-b90e-b0acba36a20e-2024-05-13T050000.000Z UD Undetermined Mode of Inheritance NCBIGene:1822 biolink:gene_associated_with_condition MONDO:0007435 infores:ubergraph knowledge_assertion manual_agent HGNC:3033 MONDO:0007435 NCBIGene:80324 biolink:gene_associated_with_condition MONDO:0024553 infores:ubergraph knowledge_assertion manual_agent HGNC:15508 MONDO:0024553 NCBIGene:5376 biolink:gene_associated_with_condition MONDO:0007691 infores:ubergraph knowledge_assertion manual_agent HGNC:9118 MONDO:0007691 NCBIGene:659 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:1078 MONDO:0015924 Definitive 2020-12-07T17:23:18.621Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a20ce78b-18ba-436c-877e-a08d092ac7c7-2020-12-07T172318.621Z AD Autosomal Dominant 0000006 NCBIGene:3594 biolink:gene_associated_with_condition MONDO:0013955 infores:ubergraph knowledge_assertion manual_agent HGNC:5971 MONDO:0013955 NCBIGene:2990 biolink:gene_associated_with_condition MONDO:0009662 infores:clingen NCBIGene:2990 MONDO:0009662 Definitive 2022-07-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aae0c8bd-5ff2-48a1-90e9-9038dcb44bc3-2022-07-05T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6892 biolink:gene_associated_with_condition MONDO:0011476 infores:clingen HGNC:11566 MONDO:0011476 Moderate 2025-06-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a75f4ea4-61e9-4a22-a6e9-d67c8b7a02e4-2025-06-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55212 biolink:gene_associated_with_condition MONDO:0014435 infores:clingen NCBIGene:55212 MONDO:0014435 Gene associated with autosomal recessive phenotype 30 NCBIGene:83696 biolink:gene_associated_with_condition MONDO:0013173 infores:clingen NCBIGene:83696 MONDO:0013173 Gene associated with autosomal recessive phenotype 30 NCBIGene:64856 biolink:gene_associated_with_condition MONDO:0030977 infores:ubergraph knowledge_assertion manual_agent HGNC:30910 MONDO:0030977 NCBIGene:54014 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:12760 MONDO:0016575 Disputed 2022-11-10T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f74ee87-e640-4604-9bb7-e7617907f92c-2022-11-10T110000.000Z AR Autosomal Recessive 0000007 NCBIGene:10093 biolink:gene_associated_with_condition MONDO:0859324 infores:ubergraph knowledge_assertion manual_agent HGNC:707 MONDO:0859324 NCBIGene:859 biolink:gene_associated_with_condition MONDO:0007402 infores:ubergraph knowledge_assertion manual_agent HGNC:1529 MONDO:0007402 NCBIGene:4436 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:7325 MONDO:0016419 Refuted 2023-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cb3ff3b-3e0e-42f2-85d5-3ffb1506a255-2023-03-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7535 biolink:gene_associated_with_condition MONDO:0010023 infores:ubergraph knowledge_assertion manual_agent HGNC:12858 MONDO:0010023 NCBIGene:816 biolink:gene_associated_with_condition MONDO:0030920 infores:ubergraph knowledge_assertion manual_agent HGNC:1461 MONDO:0030920 NCBIGene:7317 biolink:gene_associated_with_condition MONDO:0026777 infores:ubergraph knowledge_assertion manual_agent HGNC:12469 MONDO:0026777 NCBIGene:203859 biolink:gene_associated_with_condition MONDO:0008151 infores:ubergraph knowledge_assertion manual_agent HGNC:27337 MONDO:0008151 NCBIGene:338 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:338 MONDO:0700096 No evidence available 0 true NCBIGene:23418 biolink:gene_associated_with_condition MONDO:0008246 infores:ubergraph knowledge_assertion manual_agent HGNC:2343 MONDO:0008246 NCBIGene:170692 biolink:gene_associated_with_condition MONDO:0014195 infores:ubergraph knowledge_assertion manual_agent HGNC:17110 MONDO:0014195 NCBIGene:5962 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:9944 MONDO:0019497 Definitive 2018-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf494e5-7335-4e2a-8b50-75cf8412a9d0-2018-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:94 biolink:gene_associated_with_condition MONDO:0010880 infores:clingen NCBIGene:94 MONDO:0010880 Definitive 2022-12-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbbb72c5-84a0-4096-8d49-6df506cfee0e-2022-12-05T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:283489 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:283489 MONDO:0100038 Definitive 2024-01-11T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c67e6d5-1d58-4544-85e3-3078eec26231-2024-01-11T190000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:4774 biolink:gene_associated_with_condition MONDO:0100478 infores:ubergraph knowledge_assertion manual_agent HGNC:7784 MONDO:0100478 NCBIGene:6247 biolink:gene_associated_with_condition MONDO:0010725 infores:clingen NCBIGene:6247 MONDO:0010725 Definitive 2020-12-18T16:58:03.135Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_061adaaf-8b09-42e4-ae31-9b9c03d6e944-2020-12-18T165803.135Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:318 biolink:gene_associated_with_condition MONDO:0859240 infores:ubergraph knowledge_assertion manual_agent HGNC:8049 MONDO:0859240 NCBIGene:50615 biolink:gene_associated_with_condition MONDO:0014082 infores:clingen NCBIGene:50615 MONDO:0014082 Gene associated with autosomal recessive phenotype 30 NCBIGene:11160 biolink:gene_associated_with_condition MONDO:0012639 infores:ubergraph knowledge_assertion manual_agent HGNC:1356 MONDO:0012639 NCBIGene:4570 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7493 MONDO:0044970 Definitive 2022-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4659b074-c4eb-4290-9716-f39a213e37cc-2022-10-20T160000.000Z MT Mitochondrial 0001427 NCBIGene:6660 biolink:gene_associated_with_condition MONDO:0014778 infores:clingen NCBIGene:6660 MONDO:0014778 Definitive 2022-01-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_781f21f2-d01a-457c-913e-8687a7c2650d-2022-01-27T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1834 biolink:gene_associated_with_condition MONDO:0018849 infores:clingen HGNC:3054 MONDO:0018849 Definitive 2018-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39f5492a-97a3-49a6-929d-f24f23b51217-2018-04-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3183 biolink:gene_associated_with_condition MONDO:0800457 infores:ubergraph knowledge_assertion manual_agent HGNC:5035 MONDO:0800457 NCBIGene:84693 biolink:gene_associated_with_condition MONDO:0009615 infores:ubergraph knowledge_assertion manual_agent HGNC:16732 MONDO:0009615 NCBIGene:4744 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4744 MONDO:0700096 No evidence available 0 true NCBIGene:60529 biolink:gene_associated_with_condition MONDO:0012309 infores:ubergraph knowledge_assertion manual_agent HGNC:450 MONDO:0012309 NCBIGene:7874 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7874 MONDO:0700096 No evidence available 0 true NCBIGene:114327 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:16406 MONDO:0005027 Refuted 2023-09-05T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2338bd8-c9ea-464b-8281-84472771a657-2023-09-05T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:24137 biolink:gene_associated_with_condition MONDO:0010488 infores:ubergraph knowledge_assertion manual_agent HGNC:13339 MONDO:0010488 NCBIGene:26057 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26057 MONDO:0700096 No evidence available 0 true NCBIGene:8812 biolink:gene_associated_with_condition MONDO:0035775 infores:ubergraph knowledge_assertion manual_agent HGNC:1596 MONDO:0035775 NCBIGene:570 biolink:gene_associated_with_condition MONDO:0100305 infores:ubergraph knowledge_assertion manual_agent HGNC:932 MONDO:0100305 NCBIGene:442721 biolink:gene_associated_with_condition MONDO:0030887 infores:ubergraph knowledge_assertion manual_agent HGNC:6648 MONDO:0030887 NCBIGene:4556 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7479 MONDO:0044970 Definitive 2023-03-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b560595b-ee5c-4b60-b63d-1e89a5e403b4-2023-03-20T160000.000Z MT Mitochondrial 0001427 NCBIGene:5238 biolink:gene_associated_with_condition MONDO:0014353 infores:clingen NCBIGene:5238 MONDO:0014353 Definitive 2023-09-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14a28aff-a00b-4aa3-a0b8-36e63493617e-2023-09-20T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:55139 biolink:gene_associated_with_condition MONDO:0005265 infores:clingen HGNC:25527 MONDO:0005265 No Known Disease Relationship 2025-04-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c576dc9d-3feb-4707-9fe4-b58622f4495d-2025-04-15T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:9129 biolink:gene_associated_with_condition MONDO:0011075 infores:clingen HGNC:17348 MONDO:0011075 Definitive 2025-03-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac00edf-2909-49b1-a859-6307f022a13e-2025-03-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51163 biolink:gene_associated_with_condition MONDO:0957786 infores:ubergraph knowledge_assertion manual_agent HGNC:15594 MONDO:0957786 NCBIGene:83715 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:13281 MONDO:0019497 Definitive 2018-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c63a581-ad69-4f18-b68b-d1b2cef5e699-2018-02-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:137682 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:28625 MONDO:0044970 Definitive 2024-06-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9f5bc35-3a3e-481c-86f4-8dd909642f7e-2024-06-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55870 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:19088 MONDO:0800439 Definitive 2023-02-23T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41052ba5-878d-4e64-8ef2-ed65887a1345-2023-02-23T070000.000Z AD Autosomal Dominant 0000006 NCBIGene:9711 biolink:gene_associated_with_condition MONDO:0014311 infores:ubergraph knowledge_assertion manual_agent HGNC:28991 MONDO:0014311 NCBIGene:5080 biolink:gene_associated_with_condition MONDO:0011414 infores:ubergraph knowledge_assertion manual_agent HGNC:8620 MONDO:0011414 NCBIGene:4297 biolink:gene_associated_with_condition MONDO:0011518 infores:clingen NCBIGene:4297 MONDO:0011518 Definitive 2022-05-22T00:28:24.468Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a002e1eb-0420-4889-b3f1-b8fe226786f9-2022-05-22T002824.468Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7319 biolink:gene_associated_with_condition MONDO:0010461 infores:ubergraph knowledge_assertion manual_agent HGNC:12472 MONDO:0010461 NCBIGene:10526 biolink:gene_associated_with_condition MONDO:0859177 infores:ubergraph knowledge_assertion manual_agent HGNC:9853 MONDO:0859177 NCBIGene:8831 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8831 MONDO:0700096 No evidence available 0 true NCBIGene:6687 biolink:gene_associated_with_condition MONDO:0011803 infores:clingen NCBIGene:6687 MONDO:0011803 Gene associated with autosomal recessive phenotype 30 NCBIGene:3107 biolink:gene_associated_with_condition MONDO:0008334 infores:ubergraph knowledge_assertion manual_agent HGNC:4933 MONDO:0008334 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007043 infores:clingen HGNC:3689 MONDO:0007043 Definitive 2022-03-21T21:09:58.425Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eccfe56b-15d7-4ba9-abf2-163dfd3dab3c-2022-03-21T210958.425Z AD Autosomal Dominant 0000006 NCBIGene:10262 biolink:gene_associated_with_condition MONDO:0800483 infores:ubergraph knowledge_assertion manual_agent HGNC:10771 MONDO:0800483 NCBIGene:8813 biolink:gene_associated_with_condition MONDO:0012123 infores:ubergraph knowledge_assertion manual_agent HGNC:3005 MONDO:0012123 NCBIGene:30817 biolink:gene_associated_with_condition MONDO:0007447 infores:ubergraph knowledge_assertion manual_agent HGNC:3337 MONDO:0007447 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0030781 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0030781 NCBIGene:23411 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:14929 MONDO:0015967 Limited 2025-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1d943a5-34a8-450a-8fbe-078b473f2bfd-2025-04-18T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:178 biolink:gene_associated_with_condition MONDO:0009291 infores:ubergraph knowledge_assertion manual_agent HGNC:321 MONDO:0009291 NCBIGene:9758 biolink:gene_associated_with_condition MONDO:0010509 infores:ubergraph knowledge_assertion manual_agent HGNC:29007 MONDO:0010509 NCBIGene:4810 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4810 MONDO:0700096 No evidence available 0 true NCBIGene:7054 biolink:gene_associated_with_condition MONDO:0100064 infores:clingen HGNC:11782 MONDO:0100064 Definitive 2019-03-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4bf9fbb-0046-4a90-9e74-0b3b79f28f59-2019-03-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0008408 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0008408 NCBIGene:5728 biolink:gene_associated_with_condition MONDO:0008021 infores:ubergraph knowledge_assertion manual_agent HGNC:9588 MONDO:0008021 NCBIGene:3769 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:6259 MONDO:0019118 Definitive 2025-05-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0427d8a-5d09-47ba-ae9c-3645f68a287a-2025-05-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2301 biolink:gene_associated_with_condition MONDO:0019503 infores:clingen HGNC:3808 MONDO:0019503 Moderate 2025-04-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3d96af7-fd6a-4c40-b9db-3c1cd1df17a3-2025-04-15T160000.000Z UD Undetermined Mode of Inheritance NCBIGene:859 biolink:gene_associated_with_condition MONDO:0013686 infores:ubergraph knowledge_assertion manual_agent HGNC:1529 MONDO:0013686 NCBIGene:11152 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:28912 MONDO:0100148 Definitive 2019-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85a54036-4d36-414d-8d26-944b9763a039-2019-06-28T160000.000Z XL X-linked 0001417 NCBIGene:6929 biolink:gene_associated_with_condition MONDO:0859234 infores:ubergraph knowledge_assertion manual_agent HGNC:11633 MONDO:0859234 NCBIGene:2683 biolink:gene_associated_with_condition MONDO:0011772 infores:ubergraph knowledge_assertion manual_agent HGNC:924 MONDO:0011772 NCBIGene:8646 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:1949 MONDO:0005453 Limited 2023-10-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e02b93a-df51-490f-bc2a-d0881cff957d-2023-10-17T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:3295 biolink:gene_associated_with_condition MONDO:0017312 infores:clingen HGNC:5213 MONDO:0017312 Definitive 2018-05-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc9308c-2310-4e0a-9354-667dbd3c7d5d-2018-05-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57282 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57282 MONDO:0700096 No evidence available 0 true NCBIGene:6101 biolink:gene_associated_with_condition MONDO:0800400 infores:ubergraph knowledge_assertion manual_agent HGNC:10263 MONDO:0800400 NCBIGene:6391 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen NCBIGene:6391 MONDO:0017366 Definitive 2021-06-17T01:31:25.314Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c6e49d4-8117-4fc2-88cd-aad0017ce2c4-2021-06-17T013125.314Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5927 biolink:gene_associated_with_condition MONDO:0970951 infores:ubergraph knowledge_assertion manual_agent HGNC:9886 MONDO:0970951 NCBIGene:9020 biolink:gene_associated_with_condition MONDO:0957535 infores:ubergraph knowledge_assertion manual_agent HGNC:6853 MONDO:0957535 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen NCBIGene:6331 MONDO:0015263 Definitive 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10165 AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1654 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:2745 MONDO:0020119 Definitive 2020-05-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b7c89d4-ccb2-4d4e-ad11-9d6051a40b6d-2020-05-05T160000.000Z XL X-linked 0001417 NCBIGene:8772 biolink:gene_associated_with_condition MONDO:0013408 infores:clingen NCBIGene:8772 MONDO:0013408 Gene associated with autosomal recessive phenotype 30 NCBIGene:80217 biolink:gene_associated_with_condition MONDO:0009366 infores:ubergraph knowledge_assertion manual_agent HGNC:26684 MONDO:0009366 NCBIGene:26019 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26019 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:170302 MONDO:0700096 No evidence available 0 true NCBIGene:11080 biolink:gene_associated_with_condition MONDO:0957224 infores:ubergraph knowledge_assertion manual_agent HGNC:14886 MONDO:0957224 NCBIGene:427 biolink:gene_associated_with_condition MONDO:0009218 infores:clingen NCBIGene:427 MONDO:0009218 Gene associated with autosomal recessive phenotype 30 NCBIGene:1371 biolink:gene_associated_with_condition MONDO:0007369 infores:ubergraph knowledge_assertion manual_agent HGNC:2321 MONDO:0007369 NCBIGene:6134 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:10298 MONDO:0020119 Definitive 2024-11-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_974ac8bb-f7b1-4480-869a-e9ef4b8b3fa3-2024-11-28T170000.000Z XL X-linked 0001417 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:9829 MONDO:0015280 Disputed 2018-05-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e7c802-14d7-435c-b396-637b728a3ae2-2018-05-31T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2132 biolink:gene_associated_with_condition MONDO:0014731 infores:ubergraph knowledge_assertion manual_agent HGNC:3513 MONDO:0014731 NCBIGene:4214 biolink:gene_associated_with_condition MONDO:0013410 infores:ubergraph knowledge_assertion manual_agent HGNC:6848 MONDO:0013410 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0007793 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0007793 NCBIGene:342618 biolink:gene_associated_with_condition MONDO:0014830 infores:clingen HGNC:32689 MONDO:0014830 Moderate 2025-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f31ec838-fc84-47a2-9341-1fe494788a09-2025-06-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51422 biolink:gene_associated_with_condition MONDO:0800484 infores:ubergraph knowledge_assertion manual_agent HGNC:9386 MONDO:0800484 NCBIGene:200373 biolink:gene_associated_with_condition MONDO:0010220 infores:ubergraph knowledge_assertion manual_agent HGNC:33720 MONDO:0010220 NCBIGene:10664 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10664 MONDO:0700096 No evidence available 0 true NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0012912 infores:clingen NCBIGene:2778 MONDO:0012912 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79648 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:6954 MONDO:0016419 Limited 2017-01-11T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8524 AD Autosomal Dominant 0000006 NCBIGene:5191 biolink:gene_associated_with_condition MONDO:0100272 infores:ubergraph knowledge_assertion manual_agent HGNC:8860 MONDO:0100272 NCBIGene:4762 biolink:gene_associated_with_condition MONDO:0957563 infores:ubergraph knowledge_assertion manual_agent HGNC:7764 MONDO:0957563 NCBIGene:1146 biolink:gene_associated_with_condition MONDO:0009926 infores:ubergraph knowledge_assertion manual_agent HGNC:1967 MONDO:0009926 NCBIGene:34 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:34 MONDO:0700096 No evidence available 0 true NCBIGene:10717 biolink:gene_associated_with_condition MONDO:0013551 infores:clingen NCBIGene:10717 MONDO:0013551 Gene associated with autosomal recessive phenotype 30 NCBIGene:10117 biolink:gene_associated_with_condition MONDO:0007092 infores:ubergraph knowledge_assertion manual_agent HGNC:3344 MONDO:0007092 NCBIGene:91137 biolink:gene_associated_with_condition MONDO:0014671 infores:ubergraph knowledge_assertion manual_agent HGNC:25198 MONDO:0014671 NCBIGene:6102 biolink:gene_associated_with_condition MONDO:0010723 infores:clingen NCBIGene:6102 MONDO:0010723 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1303 biolink:gene_associated_with_condition MONDO:0034022 infores:ubergraph knowledge_assertion manual_agent HGNC:2188 MONDO:0034022 NCBIGene:51761 biolink:gene_associated_with_condition MONDO:0014104 infores:clingen NCBIGene:51761 MONDO:0014104 Gene associated with autosomal recessive phenotype 30 NCBIGene:1947 biolink:gene_associated_with_condition MONDO:0010570 infores:clingen NCBIGene:1947 MONDO:0010570 Definitive 2020-10-26T15:46:50.453Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31ffbd0b-5c6b-4396-a84c-9330d81e4a08-2020-10-26T154650.453Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:21 biolink:gene_associated_with_condition MONDO:0012582 infores:ubergraph knowledge_assertion manual_agent HGNC:33 MONDO:0012582 NCBIGene:222546 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:21478 MONDO:0015967 Definitive 2024-05-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0636b0f-5a63-4905-86c9-92ef57eb77d3-2024-05-10T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:11193 biolink:gene_associated_with_condition MONDO:0971043 infores:ubergraph knowledge_assertion manual_agent HGNC:12739 MONDO:0971043 NCBIGene:84627 biolink:gene_associated_with_condition MONDO:0024543 infores:ubergraph knowledge_assertion manual_agent HGNC:23216 MONDO:0024543 NCBIGene:3848 biolink:gene_associated_with_condition MONDO:0010962 infores:ubergraph knowledge_assertion manual_agent HGNC:6412 MONDO:0010962 NCBIGene:24137 biolink:gene_associated_with_condition MONDO:0010740 infores:ubergraph knowledge_assertion manual_agent HGNC:13339 MONDO:0010740 NCBIGene:2530 biolink:gene_associated_with_condition MONDO:0020775 infores:clingen HGNC:4019 MONDO:0020775 Definitive 2024-05-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a593a104-5904-461f-956b-ad1e154df921-2024-05-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:84909 biolink:gene_associated_with_condition MONDO:0030455 infores:ubergraph knowledge_assertion manual_agent HGNC:1361 MONDO:0030455 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0012504 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0012504 NCBIGene:23767 biolink:gene_associated_with_condition MONDO:0014107 infores:ubergraph knowledge_assertion manual_agent HGNC:3762 MONDO:0014107 NCBIGene:1798 biolink:gene_associated_with_condition MONDO:0011964 infores:clingen HGNC:2995 MONDO:0011964 Definitive 2024-06-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac9d420c-dfeb-460a-924f-ae80a3203188-2024-06-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3908 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3908 MONDO:0700096 No evidence available 0 true NCBIGene:54551 biolink:gene_associated_with_condition MONDO:0014243 infores:ubergraph knowledge_assertion manual_agent HGNC:6814 MONDO:0014243 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0007723 infores:clingen NCBIGene:5979 MONDO:0007723 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29119 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:29119 MONDO:0700096 No evidence available 0 true NCBIGene:970 biolink:gene_associated_with_condition MONDO:0034054 infores:ubergraph knowledge_assertion manual_agent HGNC:11937 MONDO:0034054 NCBIGene:170302 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:18060 MONDO:0100062 Definitive 2019-06-04T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5357ce-2161-4a7f-a8e1-a1dba4550e57-2019-06-04T040000.000Z XL X-linked 0001417 NCBIGene:6005 biolink:gene_associated_with_condition MONDO:0019107 infores:ubergraph knowledge_assertion manual_agent HGNC:10006 MONDO:0019107 NCBIGene:7067 biolink:gene_associated_with_condition MONDO:0034216 infores:ubergraph knowledge_assertion manual_agent HGNC:11796 MONDO:0034216 NCBIGene:128637 biolink:gene_associated_with_condition MONDO:0014296 infores:ubergraph knowledge_assertion manual_agent HGNC:16133 MONDO:0014296 NCBIGene:805 biolink:gene_associated_with_condition MONDO:0014550 infores:ubergraph knowledge_assertion manual_agent HGNC:1445 MONDO:0014550 NCBIGene:123016 biolink:gene_associated_with_condition MONDO:1040049 infores:clingen HGNC:20087 MONDO:1040049 Definitive 2024-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ac205a8-bf9d-4c54-8d1c-c5d3af4b4aab-2024-06-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:79650 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79650 MONDO:0700096 No evidence available 0 true NCBIGene:6708 biolink:gene_associated_with_condition MONDO:0009948 infores:ubergraph knowledge_assertion manual_agent HGNC:11272 MONDO:0009948 NCBIGene:2717 biolink:gene_associated_with_condition MONDO:0010526 infores:clingen NCBIGene:2717 MONDO:0010526 Definitive 2019-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb4bb6f4-89de-4586-af6b-3f218b8cb4dc-2019-01-23T170000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:200205 biolink:gene_associated_with_condition MONDO:0014644 infores:ubergraph knowledge_assertion manual_agent HGNC:27302 MONDO:0014644 NCBIGene:4247 biolink:gene_associated_with_condition MONDO:0008908 infores:ubergraph knowledge_assertion manual_agent HGNC:7045 MONDO:0008908 NCBIGene:7439 biolink:gene_associated_with_condition MONDO:0013175 infores:ubergraph knowledge_assertion manual_agent HGNC:12703 MONDO:0013175 NCBIGene:83480 biolink:gene_associated_with_condition MONDO:0014886 infores:ubergraph knowledge_assertion manual_agent HGNC:25461 MONDO:0014886 NCBIGene:25981 biolink:gene_associated_with_condition MONDO:0054615 infores:ubergraph knowledge_assertion manual_agent HGNC:2940 MONDO:0054615 NCBIGene:128 biolink:gene_associated_with_condition MONDO:0030894 infores:ubergraph knowledge_assertion manual_agent HGNC:253 MONDO:0030894 NCBIGene:4582 biolink:gene_associated_with_condition MONDO:0020726 infores:ubergraph knowledge_assertion manual_agent HGNC:7508 MONDO:0020726 NCBIGene:2902 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4584 MONDO:0100038 Definitive 2018-11-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98e5df5-8f39-4fd6-9715-bb8da7dc1806-2018-11-20T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:10677 biolink:gene_associated_with_condition MONDO:0032826 infores:ubergraph knowledge_assertion manual_agent HGNC:14188 MONDO:0032826 NCBIGene:1374 biolink:gene_associated_with_condition MONDO:0009705 infores:ubergraph knowledge_assertion manual_agent HGNC:2328 MONDO:0009705 NCBIGene:25978 biolink:gene_associated_with_condition MONDO:0010936 infores:ubergraph knowledge_assertion manual_agent HGNC:24537 MONDO:0010936 NCBIGene:6399 biolink:gene_associated_with_condition MONDO:0010737 infores:ubergraph knowledge_assertion manual_agent HGNC:23068 MONDO:0010737 NCBIGene:80206 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:26178 MONDO:0005045 Definitive 2023-09-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c31027fe-8143-4022-8bbb-867eb1692c51-2023-09-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5111 biolink:gene_associated_with_condition MONDO:0014399 infores:ubergraph knowledge_assertion manual_agent HGNC:8729 MONDO:0014399 NCBIGene:22954 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22954 MONDO:0700096 No evidence available 0 true NCBIGene:254048 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:254048 MONDO:0700096 No evidence available 0 true NCBIGene:29078 biolink:gene_associated_with_condition MONDO:0032620 infores:ubergraph knowledge_assertion manual_agent HGNC:21034 MONDO:0032620 NCBIGene:3617 biolink:gene_associated_with_condition MONDO:1040037 infores:clingen HGNC:6055 MONDO:1040037 Definitive 2023-09-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d638e88c-feaa-4d84-a4e7-9b83481bfb0c-2023-09-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:11213 biolink:gene_associated_with_condition MONDO:0012607 infores:ubergraph knowledge_assertion manual_agent HGNC:17020 MONDO:0012607 NCBIGene:1540 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1540 MONDO:0700096 No evidence available 0 true NCBIGene:10535 biolink:gene_associated_with_condition MONDO:0012472 infores:clingen NCBIGene:10535 MONDO:0012472 Gene associated with autosomal recessive phenotype 30 NCBIGene:113235 biolink:gene_associated_with_condition MONDO:0009238 infores:ubergraph knowledge_assertion manual_agent HGNC:30521 MONDO:0009238 NCBIGene:4143 biolink:gene_associated_with_condition MONDO:0009607 infores:ubergraph knowledge_assertion manual_agent HGNC:6903 MONDO:0009607 NCBIGene:10457 biolink:gene_associated_with_condition MONDO:0054765 infores:ubergraph knowledge_assertion manual_agent HGNC:4462 MONDO:0054765 NCBIGene:6576 biolink:gene_associated_with_condition MONDO:0014072 infores:clingen NCBIGene:6576 MONDO:0014072 Gene associated with autosomal recessive phenotype 30 NCBIGene:6598 biolink:gene_associated_with_condition MONDO:0024517 infores:ubergraph knowledge_assertion manual_agent HGNC:11103 MONDO:0024517 NCBIGene:57697 biolink:gene_associated_with_condition MONDO:0019391 infores:clingen HGNC:23168 MONDO:0019391 Refuted 2024-12-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28865445-bea0-42c1-8f50-fae94e93f1d8-2024-12-10T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:26504 biolink:gene_associated_with_condition MONDO:0009007 infores:clingen NCBIGene:26504 MONDO:0009007 Definitive 2021-08-06T15:48:36.361Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3cedd07-df9e-4838-8a6b-b24b2802f223-2021-08-06T154836.361Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:9652 biolink:gene_associated_with_condition MONDO:0024541 infores:clingen NCBIGene:9652 MONDO:0024541 Definitive 2024-04-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e528747-17dd-4c07-95cb-de05ad840740-2024-04-23T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3425 biolink:gene_associated_with_condition MONDO:0011758 infores:ubergraph knowledge_assertion manual_agent HGNC:5391 MONDO:0011758 NCBIGene:79641 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79641 MONDO:0700096 No evidence available 0 true NCBIGene:55719 biolink:gene_associated_with_condition MONDO:0859575 infores:ubergraph knowledge_assertion manual_agent HGNC:17814 MONDO:0859575 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:324 MONDO:0700096 No evidence available 0 true NCBIGene:2533 biolink:gene_associated_with_condition MONDO:0010120 infores:clingen HGNC:4036 MONDO:0010120 Moderate 2024-02-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e4e83fb-516b-43f8-a0af-687b9d938f74-2024-02-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:29968 biolink:gene_associated_with_condition MONDO:0018162 infores:clingen NCBIGene:29968 MONDO:0018162 Definitive 2020-06-29T16:56:56.452Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca702099-7dc9-4434-b661-a6f9b8c72d5c-2020-06-29T165656.452Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:64094 biolink:gene_associated_with_condition MONDO:0007436 infores:ubergraph knowledge_assertion manual_agent HGNC:20323 MONDO:0007436 NCBIGene:80036 biolink:gene_associated_with_condition MONDO:0859382 infores:clingen HGNC:17992 MONDO:0859382 Moderate 2024-12-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca3af405-9755-4338-85b3-e7ed94b6fbc1-2024-12-03T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:199857 biolink:gene_associated_with_condition MONDO:0100559 infores:ubergraph knowledge_assertion manual_agent HGNC:28287 MONDO:0100559 NCBIGene:22873 biolink:gene_associated_with_condition MONDO:0030844 infores:ubergraph knowledge_assertion manual_agent HGNC:20908 MONDO:0030844 NCBIGene:55240 biolink:gene_associated_with_condition MONDO:0014094 infores:ubergraph knowledge_assertion manual_agent HGNC:24592 MONDO:0014094 NCBIGene:54658 biolink:gene_associated_with_condition MONDO:0009383 infores:ubergraph knowledge_assertion manual_agent HGNC:12530 MONDO:0009383 NCBIGene:2324 biolink:gene_associated_with_condition MONDO:0007919 infores:clingen HGNC:3767 MONDO:0007919 Definitive 2022-12-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_623ef8f5-43ba-43e2-9c2d-fd44e87d6946-2022-12-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6418 biolink:gene_associated_with_condition MONDO:0020847 infores:ubergraph knowledge_assertion manual_agent HGNC:10760 MONDO:0020847 NCBIGene:1080 biolink:gene_associated_with_condition MONDO:0009061 infores:clingen NCBIGene:1080 MONDO:0009061 Gene associated with autosomal recessive phenotype 30 NCBIGene:6521 biolink:gene_associated_with_condition MONDO:0012981 infores:ubergraph knowledge_assertion manual_agent HGNC:11027 MONDO:0012981 NCBIGene:122622 biolink:gene_associated_with_condition MONDO:0014877 infores:ubergraph knowledge_assertion manual_agent HGNC:20093 MONDO:0014877 NCBIGene:84695 biolink:gene_associated_with_condition MONDO:0030697 infores:ubergraph knowledge_assertion manual_agent HGNC:13869 MONDO:0030697 NCBIGene:10128 biolink:gene_associated_with_condition MONDO:0009069 infores:ubergraph knowledge_assertion manual_agent HGNC:15714 MONDO:0009069 NCBIGene:338 biolink:gene_associated_with_condition MONDO:0007751 infores:ubergraph knowledge_assertion manual_agent HGNC:603 MONDO:0007751 NCBIGene:3757 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3757 MONDO:0700096 No evidence available 0 true NCBIGene:84936 biolink:gene_associated_with_condition MONDO:0030800 infores:ubergraph knowledge_assertion manual_agent HGNC:20758 MONDO:0030800 NCBIGene:23096 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23096 MONDO:0700096 No evidence available 0 true NCBIGene:83538 biolink:gene_associated_with_condition MONDO:0014910 infores:ubergraph knowledge_assertion manual_agent HGNC:25280 MONDO:0014910 NCBIGene:4125 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4125 MONDO:0700096 No evidence available 0 true NCBIGene:4233 biolink:gene_associated_with_condition MONDO:0017884 infores:clingen HGNC:7029 MONDO:0017884 Definitive 2018-10-11T18:47:45.818Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a71d9990-7202-487a-b7a3-4e659e0be73c-2018-10-11T184745.818Z AD Autosomal Dominant 0000006 NCBIGene:55714 biolink:gene_associated_with_condition MONDO:0014059 infores:ubergraph knowledge_assertion manual_agent HGNC:29944 MONDO:0014059 NCBIGene:6926 biolink:gene_associated_with_condition MONDO:0008411 infores:clingen NCBIGene:6926 MONDO:0008411 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2250 biolink:gene_associated_with_condition MONDO:0008593 infores:ubergraph knowledge_assertion manual_agent HGNC:3683 MONDO:0008593 NCBIGene:5805 biolink:gene_associated_with_condition MONDO:0009863 infores:clingen NCBIGene:5805 MONDO:0009863 Definitive 2017-12-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3f9b683-bd6b-4566-9341-ddd7195b5108-2017-12-22T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4718 biolink:gene_associated_with_condition MONDO:0030902 infores:ubergraph knowledge_assertion manual_agent HGNC:7706 MONDO:0030902 NCBIGene:64145 biolink:gene_associated_with_condition MONDO:0975795 infores:ubergraph knowledge_assertion manual_agent HGNC:20759 MONDO:0975795 NCBIGene:4885 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4885 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:152110 biolink:gene_associated_with_condition MONDO:0032914 infores:clingen HGNC:18592 MONDO:0032914 Definitive 2025-10-17T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72a2f8fa-ee83-48cc-93fa-22a8990c8d13-2025-10-17T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:57502 biolink:gene_associated_with_condition MONDO:0010341 infores:ubergraph knowledge_assertion manual_agent HGNC:14287 MONDO:0010341 NCBIGene:7846 biolink:gene_associated_with_condition MONDO:0100153 infores:clingen HGNC:20766 MONDO:0100153 Definitive 2024-03-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ee155a3-371d-4618-849c-38adc95728ee-2024-03-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:570 biolink:gene_associated_with_condition MONDO:0100305 infores:clingen HGNC:932 MONDO:0100305 Moderate 2024-06-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b732497-a853-45af-bf8e-b3ad663159f1-2024-06-21T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4340 biolink:gene_associated_with_condition MONDO:0013652 infores:ubergraph knowledge_assertion manual_agent HGNC:7197 MONDO:0013652 NCBIGene:79776 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:79776 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8803 biolink:gene_associated_with_condition MONDO:0012791 infores:ubergraph knowledge_assertion manual_agent HGNC:11448 MONDO:0012791 NCBIGene:6261 biolink:gene_associated_with_condition MONDO:0007783 infores:clingen HGNC:10483 MONDO:0007783 Definitive 2020-11-25T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcd5e6ba-ef77-434c-9ec6-47f72f597bfe-2020-11-25T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:1280 biolink:gene_associated_with_condition MONDO:0010078 infores:clingen HGNC:2200 MONDO:0010078 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4da6e1f-5aad-4541-a3ae-76ed4782a023-2023-09-28T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:5165 biolink:gene_associated_with_condition MONDO:0010479 infores:clingen HGNC:8811 MONDO:0010479 Definitive 2024-03-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_508a1db7-0cf1-4c28-9203-89a3f4d7438d-2024-03-14T160000.000Z XL X-linked 0001417 NCBIGene:54658 biolink:gene_associated_with_condition MONDO:0011725 infores:ubergraph knowledge_assertion manual_agent HGNC:12530 MONDO:0011725 NCBIGene:4191 biolink:gene_associated_with_condition MONDO:0015025 infores:ubergraph knowledge_assertion manual_agent HGNC:6971 MONDO:0015025 NCBIGene:253943 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:253943 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:7066 biolink:gene_associated_with_condition MONDO:0957575 infores:ubergraph knowledge_assertion manual_agent HGNC:11795 MONDO:0957575 NCBIGene:1737 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:2896 MONDO:0009723 Moderate 2021-01-14T21:20:56.234Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78e45dbe-ea30-434d-9522-aa1731b9a764-2021-01-14T212056.234Z AR Autosomal Recessive 0000007 NCBIGene:54809 biolink:gene_associated_with_condition MONDO:0014888 infores:ubergraph knowledge_assertion manual_agent HGNC:1348 MONDO:0014888 NCBIGene:1807 biolink:gene_associated_with_condition MONDO:0009111 infores:ubergraph knowledge_assertion manual_agent HGNC:3013 MONDO:0009111 NCBIGene:4068 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4068 MONDO:0700096 No evidence available 0 true NCBIGene:4204 biolink:gene_associated_with_condition MONDO:0010342 infores:ubergraph knowledge_assertion manual_agent HGNC:6990 MONDO:0010342 NCBIGene:3675 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3675 MONDO:0700096 No evidence available 0 true NCBIGene:79809 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:79809 MONDO:0700096 No evidence available 0 true NCBIGene:5551 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5551 MONDO:0700096 true Gene associated with autosomal recessive phenotype 30 NCBIGene:389692 biolink:gene_associated_with_condition MONDO:0007834 infores:ubergraph knowledge_assertion manual_agent HGNC:23145 MONDO:0007834 NCBIGene:2992 biolink:gene_associated_with_condition MONDO:0100314 infores:ubergraph knowledge_assertion manual_agent HGNC:4699 MONDO:0100314 NCBIGene:53335 biolink:gene_associated_with_condition MONDO:0014914 infores:ubergraph knowledge_assertion manual_agent HGNC:13221 MONDO:0014914 NCBIGene:2199 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3601 MONDO:0005453 Limited 2023-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d463eb0-c4b1-4f3c-bccf-86ec41c0fa68-2023-11-27T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:25778 biolink:gene_associated_with_condition MONDO:0012561 infores:ubergraph knowledge_assertion manual_agent HGNC:29043 MONDO:0012561 NCBIGene:26960 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:26960 MONDO:0100038 Definitive 2020-12-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40357db-6cc2-4240-8771-1206cd27298a-2020-12-02T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4308 biolink:gene_associated_with_condition MONDO:0800402 infores:clingen HGNC:7146 MONDO:0800402 Definitive 2022-10-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ecc95d2-f47b-4238-9475-2bd96f4b92db-2022-10-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:81545 biolink:gene_associated_with_condition MONDO:0014259 infores:ubergraph knowledge_assertion manual_agent HGNC:28844 MONDO:0014259 NCBIGene:5194 biolink:gene_associated_with_condition MONDO:0100267 infores:ubergraph knowledge_assertion manual_agent HGNC:8855 MONDO:0100267 NCBIGene:10758 biolink:gene_associated_with_condition MONDO:0014230 infores:ubergraph knowledge_assertion manual_agent HGNC:1343 MONDO:0014230 NCBIGene:860 biolink:gene_associated_with_condition MONDO:0007984 infores:ubergraph knowledge_assertion manual_agent HGNC:10472 MONDO:0007984 NCBIGene:107 biolink:gene_associated_with_condition MONDO:0012421 infores:ubergraph knowledge_assertion manual_agent HGNC:232 MONDO:0012421 NCBIGene:64170 biolink:gene_associated_with_condition MONDO:0008905 infores:ubergraph knowledge_assertion manual_agent HGNC:16391 MONDO:0008905 NCBIGene:10683 biolink:gene_associated_with_condition MONDO:0020692 infores:ubergraph knowledge_assertion manual_agent HGNC:2909 MONDO:0020692 NCBIGene:56652 biolink:gene_associated_with_condition MONDO:0014504 infores:ubergraph knowledge_assertion manual_agent HGNC:1160 MONDO:0014504 NCBIGene:4256 biolink:gene_associated_with_condition MONDO:0009495 infores:ubergraph knowledge_assertion manual_agent HGNC:7060 MONDO:0009495 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0017790 infores:ubergraph knowledge_assertion manual_agent HGNC:583 MONDO:0017790 NCBIGene:5395 biolink:gene_associated_with_condition MONDO:0013699 infores:ubergraph knowledge_assertion manual_agent HGNC:9122 MONDO:0013699 NCBIGene:9863 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:18957 MONDO:0005027 Refuted 2023-10-17T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d622b88-9c77-47f8-93b1-808517da0cff-2023-10-17T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:4688 biolink:gene_associated_with_condition MONDO:0009310 infores:ubergraph knowledge_assertion manual_agent HGNC:7661 MONDO:0009310 NCBIGene:55835 biolink:gene_associated_with_condition MONDO:0013358 infores:ubergraph knowledge_assertion manual_agent HGNC:17272 MONDO:0013358 NCBIGene:84107 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84107 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2670 biolink:gene_associated_with_condition MONDO:0008752 infores:clingen HGNC:4235 MONDO:0008752 Definitive 2024-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da6d658-360e-4097-95a9-0b6838638e31-2024-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0009268 infores:ubergraph knowledge_assertion manual_agent HGNC:4177 MONDO:0009268 NCBIGene:79876 biolink:gene_associated_with_condition MONDO:0014934 infores:ubergraph knowledge_assertion manual_agent HGNC:23230 MONDO:0014934 NCBIGene:55325 biolink:gene_associated_with_condition MONDO:0031052 infores:ubergraph knowledge_assertion manual_agent HGNC:25640 MONDO:0031052 NCBIGene:23404 biolink:gene_associated_with_condition MONDO:0044634 infores:ubergraph knowledge_assertion manual_agent HGNC:17097 MONDO:0044634 NCBIGene:8367 biolink:gene_associated_with_condition MONDO:0030993 infores:ubergraph knowledge_assertion manual_agent HGNC:4790 MONDO:0030993 NCBIGene:518 biolink:gene_associated_with_condition MONDO:0859215 infores:ubergraph knowledge_assertion manual_agent HGNC:843 MONDO:0859215 NCBIGene:2645 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2645 MONDO:0700096 No evidence available 0 true NCBIGene:2892 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2892 MONDO:0700096 No evidence available 0 true NCBIGene:4547 biolink:gene_associated_with_condition MONDO:0008692 infores:ubergraph knowledge_assertion manual_agent HGNC:7467 MONDO:0008692 NCBIGene:6813 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6813 MONDO:0700096 true Gene associated with autosomal recessive phenotype 30 NCBIGene:80224 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:20278 MONDO:0009723 Moderate 2020-03-19T19:51:15.036Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4365ffcd-637c-4862-9fa0-fb8a780a6d25-2020-03-19T195115.036Z AR Autosomal Recessive 0000007 NCBIGene:64324 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64324 MONDO:0700096 No evidence available 0 true NCBIGene:5859 biolink:gene_associated_with_condition MONDO:0014335 infores:ubergraph knowledge_assertion manual_agent HGNC:9751 MONDO:0014335 NCBIGene:51317 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:51317 MONDO:0100038 Definitive 2022-04-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1312f4b-fcc2-46ca-9132-7592e46ae05f-2022-04-06T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:345895 biolink:gene_associated_with_condition MONDO:0012978 infores:ubergraph knowledge_assertion manual_agent HGNC:21558 MONDO:0012978 NCBIGene:56947 biolink:gene_associated_with_condition MONDO:0014905 infores:ubergraph knowledge_assertion manual_agent HGNC:24858 MONDO:0014905 NCBIGene:9319 biolink:gene_associated_with_condition MONDO:0054736 infores:ubergraph knowledge_assertion manual_agent HGNC:12307 MONDO:0054736 NCBIGene:55967 biolink:gene_associated_with_condition MONDO:0032627 infores:ubergraph knowledge_assertion manual_agent HGNC:23987 MONDO:0032627 NCBIGene:3651 biolink:gene_associated_with_condition MONDO:0024547 infores:ubergraph knowledge_assertion manual_agent HGNC:6107 MONDO:0024547 NCBIGene:54443 biolink:gene_associated_with_condition MONDO:0014462 infores:ubergraph knowledge_assertion manual_agent HGNC:14082 MONDO:0014462 NCBIGene:1981 biolink:gene_associated_with_condition MONDO:0013653 infores:ubergraph knowledge_assertion manual_agent HGNC:3296 MONDO:0013653 NCBIGene:5314 biolink:gene_associated_with_condition MONDO:0009889 infores:clingen HGNC:9016 MONDO:0009889 Definitive 2020-11-11T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06fb7576-e842-4e52-9284-0762bb7a05c6-2020-11-11T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:26503 biolink:gene_associated_with_condition MONDO:0010027 infores:ubergraph knowledge_assertion manual_agent HGNC:10933 MONDO:0010027 NCBIGene:84930 biolink:gene_associated_with_condition MONDO:0002049 infores:clingen HGNC:19042 MONDO:0002049 Limited 2025-03-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3516a7ea-f5b3-4df7-a348-2a127fff5a3e-2025-03-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:51398 biolink:gene_associated_with_condition MONDO:0975877 infores:ubergraph knowledge_assertion manual_agent HGNC:30203 MONDO:0975877 NCBIGene:55532 biolink:gene_associated_with_condition MONDO:0013208 infores:clingen NCBIGene:55532 MONDO:0013208 Gene associated with autosomal recessive phenotype 30 NCBIGene:2255 biolink:gene_associated_with_condition MONDO:0008397 infores:ubergraph knowledge_assertion manual_agent HGNC:3666 MONDO:0008397 NCBIGene:83938 biolink:gene_associated_with_condition MONDO:0014070 infores:ubergraph knowledge_assertion manual_agent HGNC:23405 MONDO:0014070 NCBIGene:2626 biolink:gene_associated_with_condition MONDO:0100009 infores:ubergraph knowledge_assertion manual_agent HGNC:4173 MONDO:0100009 NCBIGene:7306 biolink:gene_associated_with_condition MONDO:0008747 infores:clingen NCBIGene:7306 MONDO:0008747 Gene associated with autosomal recessive phenotype 30 NCBIGene:11155 biolink:gene_associated_with_condition MONDO:0012277 infores:ubergraph knowledge_assertion manual_agent HGNC:15710 MONDO:0012277 NCBIGene:165918 biolink:gene_associated_with_condition MONDO:0012764 infores:clingen NCBIGene:165918 MONDO:0012764 Definitive 2022-08-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2eab353f-d7ed-4f22-883e-0b62c7bc4f9b-2022-08-08T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5308 biolink:gene_associated_with_condition MONDO:0007662 infores:ubergraph knowledge_assertion manual_agent HGNC:9005 MONDO:0007662 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0007171 infores:ubergraph knowledge_assertion manual_agent HGNC:10593 MONDO:0007171 NCBIGene:92344 biolink:gene_associated_with_condition MONDO:0009271 infores:ubergraph knowledge_assertion manual_agent HGNC:25676 MONDO:0009271 NCBIGene:8869 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8869 MONDO:0700096 No evidence available 0 true NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0011274 infores:clingen HGNC:3690 MONDO:0011274 Definitive 2022-03-29T17:20:23.530Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e94c1870-5413-4f75-8925-8bea54199d47-2022-03-29T172023.530Z AD Autosomal Dominant 0000006 NCBIGene:80267 biolink:gene_associated_with_condition MONDO:0030423 infores:clingen HGNC:16787 MONDO:0030423 Strong 2024-04-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae5cd89b-84f1-4ae4-a647-72732d87d7f4-2024-04-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:146206 biolink:gene_associated_with_condition MONDO:0029134 infores:ubergraph knowledge_assertion manual_agent HGNC:27089 MONDO:0029134 NCBIGene:9968 biolink:gene_associated_with_condition MONDO:0100000 infores:clingen HGNC:11957 MONDO:0100000 Definitive 2025-10-15T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afba0573-9f47-4814-bf3a-ef41f5512dee-2025-10-15T100000.000Z XL X-linked 0001417 NCBIGene:84131 biolink:gene_associated_with_condition MONDO:0014980 infores:clingen HGNC:25740 MONDO:0014980 Strong 2017-04-12T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8149 AR Autosomal Recessive 0000007 NCBIGene:3798 biolink:gene_associated_with_condition MONDO:0100629 infores:ubergraph knowledge_assertion manual_agent HGNC:6323 MONDO:0100629 NCBIGene:442721 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:6648 MONDO:0005021 Definitive 2024-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d19140d6-8200-4fce-9906-fdda527a4f7e-2024-10-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4593 biolink:gene_associated_with_condition MONDO:0100101 infores:ubergraph knowledge_assertion manual_agent HGNC:7525 MONDO:0100101 NCBIGene:1123 biolink:gene_associated_with_condition MONDO:0011444 infores:clingen HGNC:1943 MONDO:0011444 Moderate 2022-07-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c19544e0-2fb1-4d8a-b1ad-f493068f76bb-2022-07-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0013568 infores:ubergraph knowledge_assertion manual_agent HGNC:7576 MONDO:0013568 NCBIGene:23396 biolink:gene_associated_with_condition MONDO:1010145 infores:ubergraph knowledge_assertion manual_agent HGNC:8996 MONDO:1010145 NCBIGene:285590 biolink:gene_associated_with_condition MONDO:0009579 infores:ubergraph knowledge_assertion manual_agent HGNC:29242 MONDO:0009579 NCBIGene:10056 biolink:gene_associated_with_condition MONDO:0100215 infores:ubergraph knowledge_assertion manual_agent HGNC:17800 MONDO:0100215 NCBIGene:27286 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:30668 MONDO:0005027 Refuted 2023-10-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9555886-a248-4bd4-b3dc-50ff503d6e7a-2023-10-17T170000.000Z XL X-linked 0001417 NCBIGene:23093 biolink:gene_associated_with_condition MONDO:1040038 infores:ubergraph knowledge_assertion manual_agent HGNC:19963 MONDO:1040038 NCBIGene:7345 biolink:gene_associated_with_condition MONDO:0859363 infores:ubergraph knowledge_assertion manual_agent HGNC:12513 MONDO:0859363 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0014047 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0014047 NCBIGene:5828 biolink:gene_associated_with_condition MONDO:0100260 infores:ubergraph knowledge_assertion manual_agent HGNC:9717 MONDO:0100260 NCBIGene:5979 biolink:gene_associated_with_condition MONDO:0008234 infores:ubergraph knowledge_assertion manual_agent HGNC:9967 MONDO:0008234 NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0008197 infores:ubergraph knowledge_assertion manual_agent HGNC:7392 MONDO:0008197 NCBIGene:10342 biolink:gene_associated_with_condition MONDO:0014295 infores:ubergraph knowledge_assertion manual_agent HGNC:11758 MONDO:0014295 NCBIGene:201163 biolink:gene_associated_with_condition MONDO:0800445 infores:ubergraph knowledge_assertion manual_agent HGNC:27310 MONDO:0800445 NCBIGene:1287 biolink:gene_associated_with_condition MONDO:0018965 infores:clingen HGNC:2207 MONDO:0018965 Definitive 2019-03-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0407dc2e-1cab-4043-889d-4695b043d7b3-2019-03-19T160000.000Z XL X-linked 0001417 NCBIGene:925 biolink:gene_associated_with_condition MONDO:0012161 infores:ubergraph knowledge_assertion manual_agent HGNC:1706 MONDO:0012161 NCBIGene:4436 biolink:gene_associated_with_condition MONDO:0007356 infores:ubergraph knowledge_assertion manual_agent HGNC:7325 MONDO:0007356 NCBIGene:9927 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9927 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0008050 infores:clingen HGNC:7577 MONDO:0008050 Definitive 2021-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8974721a-f333-4fb7-b8b7-043233d3d100-2021-05-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:65062 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:65062 MONDO:0700096 No evidence available 0 true NCBIGene:7374 biolink:gene_associated_with_condition MONDO:0011971 infores:ubergraph knowledge_assertion manual_agent HGNC:12572 MONDO:0011971 NCBIGene:4306 biolink:gene_associated_with_condition MONDO:0008329 infores:clingen NCBIGene:4306 MONDO:0008329 Definitive 2021-07-15T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c78e824-d77d-4635-a181-6139b8e9c028-2021-07-15T023000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7507 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7507 MONDO:0700096 No evidence available 0 true NCBIGene:10461 biolink:gene_associated_with_condition MONDO:0800394 infores:ubergraph knowledge_assertion manual_agent HGNC:7027 MONDO:0800394 NCBIGene:158401 biolink:gene_associated_with_condition MONDO:0030984 infores:ubergraph knowledge_assertion manual_agent HGNC:26535 MONDO:0030984 NCBIGene:50649 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:50649 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4646 biolink:gene_associated_with_condition MONDO:0011912 infores:ubergraph knowledge_assertion manual_agent HGNC:7605 MONDO:0011912 NCBIGene:8313 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8313 MONDO:0700096 No evidence available 0 true NCBIGene:26012 biolink:gene_associated_with_condition MONDO:0013911 infores:ubergraph knowledge_assertion manual_agent HGNC:29843 MONDO:0013911 NCBIGene:2161 biolink:gene_associated_with_condition MONDO:0012526 infores:clingen HGNC:3530 MONDO:0012526 Definitive 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40992c9-1172-4528-ab53-95108094d4b6-2024-09-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:64478 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:64478 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:64072 biolink:gene_associated_with_condition MONDO:0100050 infores:ubergraph knowledge_assertion manual_agent HGNC:13733 MONDO:0100050 NCBIGene:11151 biolink:gene_associated_with_condition MONDO:0014168 infores:clingen NCBIGene:11151 MONDO:0014168 Definitive 2022-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f55fde93-1b6e-4d03-b737-ecad8aa89ecf-2022-06-03T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3704 biolink:gene_associated_with_condition MONDO:0013461 infores:ubergraph knowledge_assertion manual_agent HGNC:6176 MONDO:0013461 NCBIGene:65082 biolink:gene_associated_with_condition MONDO:0015012 infores:ubergraph knowledge_assertion manual_agent HGNC:18179 MONDO:0015012 NCBIGene:6690 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6690 MONDO:0700096 No evidence available 0 true NCBIGene:8239 biolink:gene_associated_with_condition MONDO:0010502 infores:ubergraph knowledge_assertion manual_agent HGNC:12632 MONDO:0010502 NCBIGene:51082 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51082 MONDO:0700096 No evidence available 0 true NCBIGene:23181 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23181 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:9529 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:941 MONDO:0005021 Moderate 2024-06-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97fe83b7-fe12-4014-9706-6847446fa9bd-2024-06-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:201625 biolink:gene_associated_with_condition MONDO:0004983 infores:clingen HGNC:2943 MONDO:0004983 Definitive 2025-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2911f00b-c01b-40fb-a82e-38e004eda251-2025-05-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57511 biolink:gene_associated_with_condition MONDO:0013810 infores:ubergraph knowledge_assertion manual_agent HGNC:18621 MONDO:0013810 NCBIGene:2273 biolink:gene_associated_with_condition MONDO:0800462 infores:ubergraph knowledge_assertion manual_agent HGNC:3702 MONDO:0800462 NCBIGene:4166 biolink:gene_associated_with_condition MONDO:0009020 infores:ubergraph knowledge_assertion manual_agent HGNC:6938 MONDO:0009020 NCBIGene:92935 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25133 MONDO:0044970 Definitive 2022-05-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b65af5c2-f03e-4e10-a2c4-e4524b64f1cc-2022-05-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:78989 biolink:gene_associated_with_condition MONDO:0009927 infores:ubergraph knowledge_assertion manual_agent HGNC:17213 MONDO:0009927 NCBIGene:54704 biolink:gene_associated_with_condition MONDO:0012120 infores:ubergraph knowledge_assertion manual_agent HGNC:9279 MONDO:0012120 NCBIGene:653361 biolink:gene_associated_with_condition MONDO:0009309 infores:ubergraph knowledge_assertion manual_agent HGNC:7660 MONDO:0009309 NCBIGene:3763 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3763 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6949 biolink:gene_associated_with_condition MONDO:0002457 infores:clingen HGNC:11654 MONDO:0002457 Definitive 2019-09-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f91c5fe-8e58-4c98-9878-e428e2e41dd7-2019-09-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:27034 biolink:gene_associated_with_condition MONDO:0012648 infores:clingen HGNC:87 MONDO:0012648 Definitive 2019-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d260f0e-df71-420a-9281-92e4bddcddbb-2019-04-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4537 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7458 MONDO:0009723 Definitive 2021-03-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8af71e8b-b1f8-45d6-9dd7-e403a6f6080e-2021-03-24T040000.000Z MT Mitochondrial 0001427 NCBIGene:10243 biolink:gene_associated_with_condition MONDO:0014212 infores:ubergraph knowledge_assertion manual_agent HGNC:15465 MONDO:0014212 NCBIGene:23499 biolink:gene_associated_with_condition MONDO:0032677 infores:ubergraph knowledge_assertion manual_agent HGNC:13664 MONDO:0032677 NCBIGene:4750 biolink:gene_associated_with_condition MONDO:0009894 infores:clingen NCBIGene:4750 MONDO:0009894 Gene associated with autosomal recessive phenotype 30 NCBIGene:11267 biolink:gene_associated_with_condition MONDO:0968946 infores:ubergraph knowledge_assertion manual_agent HGNC:17028 MONDO:0968946 NCBIGene:64131 biolink:gene_associated_with_condition MONDO:0014343 infores:clingen NCBIGene:64131 MONDO:0014343 Gene associated with autosomal recessive phenotype 30 NCBIGene:2155 biolink:gene_associated_with_condition MONDO:0002244 infores:clingen HGNC:3544 MONDO:0002244 Definitive 2019-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43fb4e99-e97a-4d9c-af11-79c2b09ecd2e-2019-07-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8575 biolink:gene_associated_with_condition MONDO:0012789 infores:ubergraph knowledge_assertion manual_agent HGNC:9438 MONDO:0012789 NCBIGene:7155 biolink:gene_associated_with_condition MONDO:0012243 infores:clingen HGNC:11990 MONDO:0012243 Moderate 2021-10-19T12:57:36.122Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_677a64c1-b005-44f6-9846-a7f371222667-2021-10-19T125736.122Z AD Autosomal Dominant 0000006 NCBIGene:10320 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10320 MONDO:0700096 No evidence available 0 true NCBIGene:6597 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6597 MONDO:0700096 No evidence available 0 true NCBIGene:6925 biolink:gene_associated_with_condition MONDO:0013203 infores:ubergraph knowledge_assertion manual_agent HGNC:11634 MONDO:0013203 NCBIGene:5897 biolink:gene_associated_with_condition MONDO:0011338 infores:clingen NCBIGene:5897 MONDO:0011338 Gene associated with autosomal recessive phenotype 30 NCBIGene:5618 biolink:gene_associated_with_condition MONDO:0014249 infores:ubergraph knowledge_assertion manual_agent HGNC:9446 MONDO:0014249 NCBIGene:443 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:443 MONDO:0700096 No evidence available 0 true NCBIGene:9381 biolink:gene_associated_with_condition MONDO:0010986 infores:clingen NCBIGene:9381 MONDO:0010986 Definitive 2017-01-30T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5613 AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:80821 biolink:gene_associated_with_condition MONDO:0012256 infores:ubergraph knowledge_assertion manual_agent HGNC:19714 MONDO:0012256 NCBIGene:4688 biolink:gene_associated_with_condition MONDO:0009310 infores:clingen NCBIGene:4688 MONDO:0009310 Gene associated with autosomal recessive phenotype 30 NCBIGene:10535 biolink:gene_associated_with_condition MONDO:0700259 infores:ubergraph knowledge_assertion manual_agent HGNC:18518 MONDO:0700259 NCBIGene:57680 biolink:gene_associated_with_condition MONDO:0014017 infores:ubergraph knowledge_assertion manual_agent HGNC:20153 MONDO:0014017 NCBIGene:4308 biolink:gene_associated_with_condition MONDO:0800402 infores:ubergraph knowledge_assertion manual_agent HGNC:7146 MONDO:0800402 NCBIGene:580 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:580 MONDO:0700096 No evidence available 0 true NCBIGene:54476 biolink:gene_associated_with_condition MONDO:0008935 infores:ubergraph knowledge_assertion manual_agent HGNC:21698 MONDO:0008935 NCBIGene:93426 biolink:gene_associated_with_condition MONDO:0014847 infores:ubergraph knowledge_assertion manual_agent HGNC:28852 MONDO:0014847 NCBIGene:4010 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4010 MONDO:0700096 No evidence available 0 true NCBIGene:50674 biolink:gene_associated_with_condition MONDO:0012479 infores:ubergraph knowledge_assertion manual_agent HGNC:13806 MONDO:0012479 NCBIGene:790955 biolink:gene_associated_with_condition MONDO:0014496 infores:ubergraph knowledge_assertion manual_agent HGNC:34399 MONDO:0014496 NCBIGene:3572 biolink:gene_associated_with_condition MONDO:0800131 infores:ubergraph knowledge_assertion manual_agent HGNC:6021 MONDO:0800131 NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0007266 infores:ubergraph knowledge_assertion manual_agent HGNC:11949 MONDO:0007266 NCBIGene:80055 biolink:gene_associated_with_condition MONDO:0014348 infores:ubergraph knowledge_assertion manual_agent HGNC:25712 MONDO:0014348 NCBIGene:1769 biolink:gene_associated_with_condition MONDO:0033673 infores:ubergraph knowledge_assertion manual_agent HGNC:2952 MONDO:0033673 NCBIGene:283489 biolink:gene_associated_with_condition MONDO:0014699 infores:ubergraph knowledge_assertion manual_agent HGNC:20311 MONDO:0014699 NCBIGene:253827 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:253827 MONDO:0700096 No evidence available 0 true NCBIGene:5310 biolink:gene_associated_with_condition MONDO:0009889 infores:clingen HGNC:9008 MONDO:0009889 Definitive 2023-01-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38c5bda-7182-403f-a99b-4f8492afb24f-2023-01-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7415 biolink:gene_associated_with_condition MONDO:0014735 infores:ubergraph knowledge_assertion manual_agent HGNC:12666 MONDO:0014735 NCBIGene:58499 biolink:gene_associated_with_condition MONDO:0032836 infores:ubergraph knowledge_assertion manual_agent HGNC:21684 MONDO:0032836 NCBIGene:7053 biolink:gene_associated_with_condition MONDO:0014989 infores:ubergraph knowledge_assertion manual_agent HGNC:11779 MONDO:0014989 NCBIGene:80210 biolink:gene_associated_with_condition MONDO:0033308 infores:ubergraph knowledge_assertion manual_agent HGNC:20730 MONDO:0033308 NCBIGene:6885 biolink:gene_associated_with_condition MONDO:0014935 infores:ubergraph knowledge_assertion manual_agent HGNC:6859 MONDO:0014935 NCBIGene:5160 biolink:gene_associated_with_condition MONDO:0010717 infores:ubergraph knowledge_assertion manual_agent HGNC:8806 MONDO:0010717 NCBIGene:9708 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9708 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:92935 biolink:gene_associated_with_condition MONDO:0014636 infores:ubergraph knowledge_assertion manual_agent HGNC:25133 MONDO:0014636 NCBIGene:6611 biolink:gene_associated_with_condition MONDO:0010664 infores:clingen NCBIGene:6611 MONDO:0010664 Definitive 2018-05-16T19:55:43.428Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f1ca85b-ad57-4c64-9abf-9ae5d915703f-2018-05-16T195543.428Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54585 biolink:gene_associated_with_condition MONDO:1040046 infores:ubergraph knowledge_assertion manual_agent HGNC:6741 MONDO:1040046 NCBIGene:673 biolink:gene_associated_with_condition MONDO:0007893 infores:clingen HGNC:1097 MONDO:0007893 Limited 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_888875a8-5654-486b-8e64-e1382ccc6650-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54805 biolink:gene_associated_with_condition MONDO:0013480 infores:ubergraph knowledge_assertion manual_agent HGNC:103 MONDO:0013480 NCBIGene:23729 biolink:gene_associated_with_condition MONDO:0014969 infores:ubergraph knowledge_assertion manual_agent HGNC:1492 MONDO:0014969 NCBIGene:3053 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3053 MONDO:0700096 No evidence available 0 true NCBIGene:130951 biolink:gene_associated_with_condition MONDO:0030846 infores:ubergraph knowledge_assertion manual_agent HGNC:25183 MONDO:0030846 NCBIGene:6651 biolink:gene_associated_with_condition MONDO:0014936 infores:ubergraph knowledge_assertion manual_agent HGNC:11183 MONDO:0014936 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0007791 infores:ubergraph knowledge_assertion manual_agent HGNC:1514 MONDO:0007791 NCBIGene:344191 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:344191 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:100996717 biolink:gene_associated_with_condition MONDO:0023671 infores:ubergraph knowledge_assertion manual_agent HGNC:53924 MONDO:0023671 NCBIGene:4629 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:7569 MONDO:0005453 Limited 2024-10-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60bc01a5-0957-4664-bf1f-b9d7b42f5283-2024-10-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0013248 infores:ubergraph knowledge_assertion manual_agent HGNC:9820 MONDO:0013248 NCBIGene:4210 biolink:gene_associated_with_condition MONDO:0007601 infores:ubergraph knowledge_assertion manual_agent HGNC:6998 MONDO:0007601 NCBIGene:931 biolink:gene_associated_with_condition MONDO:0013285 infores:clingen HGNC:7315 MONDO:0013285 Limited 2022-03-02T18:57:14.677Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eba48c0f-53fa-48c9-8f4e-9892d095b515-2022-03-02T185714.677Z AR Autosomal Recessive 0000007 NCBIGene:3689 biolink:gene_associated_with_condition MONDO:0007293 infores:ubergraph knowledge_assertion manual_agent HGNC:6155 MONDO:0007293 NCBIGene:127534 biolink:gene_associated_with_condition MONDO:0033012 infores:ubergraph knowledge_assertion manual_agent HGNC:4286 MONDO:0033012 NCBIGene:338328 biolink:gene_associated_with_condition MONDO:0014412 infores:ubergraph knowledge_assertion manual_agent HGNC:24945 MONDO:0014412 NCBIGene:8036 biolink:gene_associated_with_condition MONDO:0054637 infores:ubergraph knowledge_assertion manual_agent HGNC:15454 MONDO:0054637 NCBIGene:7046 biolink:gene_associated_with_condition MONDO:0007566 infores:clingen NCBIGene:7046 MONDO:0007566 Definitive 2019-12-20T21:25:50.834Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_570947a0-3e45-419c-bc22-0fdc60ca6009-2019-12-20T212550.834Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6329 biolink:gene_associated_with_condition MONDO:0957265 infores:ubergraph knowledge_assertion manual_agent HGNC:10591 MONDO:0957265 NCBIGene:51684 biolink:gene_associated_with_condition MONDO:0007959 infores:clingen HGNC:16466 MONDO:0007959 Definitive 2018-10-11T18:42:15.077Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1408d8b1-015c-48b3-a28e-d99b5545fce8-2018-10-11T184215.077Z AD Autosomal Dominant 0000006 NCBIGene:153241 biolink:gene_associated_with_condition MONDO:0014577 infores:ubergraph knowledge_assertion manual_agent HGNC:26690 MONDO:0014577 NCBIGene:6773 biolink:gene_associated_with_condition MONDO:0030044 infores:ubergraph knowledge_assertion manual_agent HGNC:11363 MONDO:0030044 NCBIGene:7015 biolink:gene_associated_with_condition MONDO:0014056 infores:ubergraph knowledge_assertion manual_agent HGNC:11730 MONDO:0014056 NCBIGene:23187 biolink:gene_associated_with_condition MONDO:0957988 infores:ubergraph knowledge_assertion manual_agent HGNC:23697 MONDO:0957988 NCBIGene:3818 biolink:gene_associated_with_condition MONDO:0012901 infores:ubergraph knowledge_assertion manual_agent HGNC:6371 MONDO:0012901 NCBIGene:4724 biolink:gene_associated_with_condition MONDO:0100224 infores:ubergraph knowledge_assertion manual_agent HGNC:7711 MONDO:0100224 NCBIGene:4512 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7419 MONDO:0009723 Limited 2021-06-28T14:35:40.269Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_227922e2-1f4e-4bd5-9fc2-d48bac5d394f-2021-06-28T143540.269Z MT Mitochondrial 0001427 NCBIGene:659 biolink:gene_associated_with_condition MONDO:0024533 infores:clingen NCBIGene:659 MONDO:0024533 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3265 biolink:gene_associated_with_condition MONDO:0009026 infores:ubergraph knowledge_assertion manual_agent HGNC:5173 MONDO:0009026 NCBIGene:3786 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:6297 MONDO:0100038 Definitive 2023-08-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01b1e550-23b6-47a1-8906-e0d916b863a6-2023-08-01T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:81887 biolink:gene_associated_with_condition MONDO:0010665 infores:ubergraph knowledge_assertion manual_agent HGNC:25726 MONDO:0010665 NCBIGene:196385 biolink:gene_associated_with_condition MONDO:0016575 infores:clingen HGNC:2941 MONDO:0016575 Limited 2025-02-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_698c6b23-a6fb-4b56-a38e-b29d5f8bbd86-2025-02-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7454 biolink:gene_associated_with_condition MONDO:0010518 infores:ubergraph knowledge_assertion manual_agent HGNC:12731 MONDO:0010518 NCBIGene:4093 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:6774 MONDO:0015924 Definitive 2021-05-14T19:29:54.557Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14f5a0c2-f82c-4571-a161-fb7ce61ae6d4-2021-05-14T192954.557Z AD Autosomal Dominant 0000006 NCBIGene:23095 biolink:gene_associated_with_condition MONDO:0007308 infores:ubergraph knowledge_assertion manual_agent HGNC:16636 MONDO:0007308 NCBIGene:875 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:875 MONDO:0700096 No evidence available 0 true NCBIGene:54148 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14027 MONDO:0044970 Moderate 2024-01-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b112a15-0b02-4942-bd93-7cac3305f3b9-2024-01-29T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:26040 biolink:gene_associated_with_condition MONDO:0010010 infores:ubergraph knowledge_assertion manual_agent HGNC:15573 MONDO:0010010 NCBIGene:2058 biolink:gene_associated_with_condition MONDO:0054782 infores:ubergraph knowledge_assertion manual_agent HGNC:3418 MONDO:0054782 NCBIGene:64816 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64816 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0054801 infores:clingen HGNC:4827 MONDO:0054801 Definitive 2023-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de05dd1c-d081-40d4-b2e2-47a590915609-2023-09-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1288 biolink:gene_associated_with_condition MONDO:0010484 infores:ubergraph knowledge_assertion manual_agent HGNC:2208 MONDO:0010484 NCBIGene:79092 biolink:gene_associated_with_condition MONDO:0011269 infores:ubergraph knowledge_assertion manual_agent HGNC:16446 MONDO:0011269 NCBIGene:81858 biolink:gene_associated_with_condition MONDO:0968982 infores:ubergraph knowledge_assertion manual_agent HGNC:25321 MONDO:0968982 NCBIGene:1736 biolink:gene_associated_with_condition MONDO:0010584 infores:clingen HGNC:2890 MONDO:0010584 Definitive 2025-09-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb90bea1-16e7-44da-8551-91fb5fd7088a-2025-09-22T170000.000Z XL X-linked 0001417 NCBIGene:3178 biolink:gene_associated_with_condition MONDO:0014181 infores:ubergraph knowledge_assertion manual_agent HGNC:5031 MONDO:0014181 NCBIGene:3551 biolink:gene_associated_with_condition MONDO:0032599 infores:clingen HGNC:5960 MONDO:0032599 Moderate 2025-10-24T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f3541ed-a9c7-4fb5-954a-2811672a2cc4-2025-10-24T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:22930 biolink:gene_associated_with_condition MONDO:0016649 infores:clingen HGNC:17063 MONDO:0016649 Definitive 2020-05-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1e4a47e-757a-442f-b82f-2ddfd69d0854-2020-05-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:203068 biolink:gene_associated_with_condition MONDO:0014341 infores:ubergraph knowledge_assertion manual_agent HGNC:20778 MONDO:0014341 NCBIGene:115650 biolink:gene_associated_with_condition MONDO:0013284 infores:clingen HGNC:17755 MONDO:0013284 Limited 2021-04-13T00:33:59.028Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1408411b-9d28-4308-b2bc-dbada3660898-2021-04-13T003359.028Z AR Autosomal Recessive 0000007 NCBIGene:10519 biolink:gene_associated_with_condition MONDO:0032644 infores:ubergraph knowledge_assertion manual_agent HGNC:16920 MONDO:0032644 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0010979 infores:ubergraph knowledge_assertion manual_agent HGNC:1390 MONDO:0010979 NCBIGene:283989 biolink:gene_associated_with_condition MONDO:0010190 infores:ubergraph knowledge_assertion manual_agent HGNC:27561 MONDO:0010190 NCBIGene:6566 biolink:gene_associated_with_condition MONDO:0009501 infores:ubergraph knowledge_assertion manual_agent HGNC:10922 MONDO:0009501 NCBIGene:8295 biolink:gene_associated_with_condition MONDO:0032760 infores:ubergraph knowledge_assertion manual_agent HGNC:12347 MONDO:0032760 NCBIGene:7486 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7486 MONDO:0700096 No evidence available 0 true NCBIGene:2314 biolink:gene_associated_with_condition MONDO:0957984 infores:ubergraph knowledge_assertion manual_agent HGNC:3750 MONDO:0957984 NCBIGene:1859 biolink:gene_associated_with_condition MONDO:0013578 infores:clingen NCBIGene:1859 MONDO:0013578 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23446 biolink:gene_associated_with_condition MONDO:0030028 infores:ubergraph knowledge_assertion manual_agent HGNC:18798 MONDO:0030028 NCBIGene:775 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:1390 MONDO:0000453 Disputed 2020-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51dae85e-8745-48c1-8fb9-cabc2501d3fb-2020-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1137 biolink:gene_associated_with_condition MONDO:0010899 infores:ubergraph knowledge_assertion manual_agent HGNC:1958 MONDO:0010899 NCBIGene:3070 biolink:gene_associated_with_condition MONDO:0014829 infores:ubergraph knowledge_assertion manual_agent HGNC:4861 MONDO:0014829 NCBIGene:1201 biolink:gene_associated_with_condition MONDO:0008767 infores:ubergraph knowledge_assertion manual_agent HGNC:2074 MONDO:0008767 NCBIGene:4744 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:7737 MONDO:0004976 Limited 2023-03-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c71deac-6b11-4947-8834-8391d516a9c9-2023-03-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84334 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20492 MONDO:0044970 Definitive 2023-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b2b04f9-275d-45e9-acc6-ee86bf20c782-2023-07-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:8106 biolink:gene_associated_with_condition MONDO:0958176 infores:ubergraph knowledge_assertion manual_agent HGNC:8565 MONDO:0958176 NCBIGene:2266 biolink:gene_associated_with_condition MONDO:0018060 infores:clingen HGNC:3694 MONDO:0018060 Definitive 2020-01-23T17:33:01.596Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ef37f0f-a5ae-402c-b319-7f7d731ecbb1-2020-01-23T173301.596Z SD Semidominant 0032113 NCBIGene:25885 biolink:gene_associated_with_condition MONDO:0958018 infores:ubergraph knowledge_assertion manual_agent HGNC:17264 MONDO:0958018 NCBIGene:5476 biolink:gene_associated_with_condition MONDO:0009737 infores:ubergraph knowledge_assertion manual_agent HGNC:9251 MONDO:0009737 NCBIGene:4534 biolink:gene_associated_with_condition MONDO:0010683 infores:clingen NCBIGene:4534 MONDO:0010683 Definitive 2019-11-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b60f008-871f-4c5f-aa46-099d09fb66df-2019-11-22T170000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4514 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7422 MONDO:0009723 Limited 2021-06-28T14:47:16.059Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_996428ee-5af2-458b-afb7-6e29348c585a-2021-06-28T144716.059Z MT Mitochondrial 0001427 NCBIGene:579 biolink:gene_associated_with_condition MONDO:0013228 infores:clingen NCBIGene:579 MONDO:0013228 Gene associated with autosomal recessive phenotype 30 NCBIGene:1184 biolink:gene_associated_with_condition MONDO:0010225 infores:ubergraph knowledge_assertion manual_agent HGNC:2023 MONDO:0010225 NCBIGene:5340 biolink:gene_associated_with_condition MONDO:0100537 infores:ubergraph knowledge_assertion manual_agent HGNC:9071 MONDO:0100537 NCBIGene:5339 biolink:gene_associated_with_condition MONDO:1060109 infores:clingen HGNC:9069 MONDO:1060109 Definitive 2025-04-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67674d96-8b18-4139-8b88-317f63485a14-2025-04-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:80155 biolink:gene_associated_with_condition MONDO:0030916 infores:ubergraph knowledge_assertion manual_agent HGNC:30782 MONDO:0030916 NCBIGene:29967 biolink:gene_associated_with_condition MONDO:0957538 infores:ubergraph knowledge_assertion manual_agent HGNC:31708 MONDO:0957538 NCBIGene:4626 biolink:gene_associated_with_condition MONDO:0008016 infores:ubergraph knowledge_assertion manual_agent HGNC:7578 MONDO:0008016 NCBIGene:654 biolink:gene_associated_with_condition MONDO:0859316 infores:ubergraph knowledge_assertion manual_agent HGNC:1073 MONDO:0859316 NCBIGene:9158 biolink:gene_associated_with_condition MONDO:0014918 infores:ubergraph knowledge_assertion manual_agent HGNC:3705 MONDO:0014918 NCBIGene:9215 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9215 MONDO:0700096 No evidence available 0 true NCBIGene:2990 biolink:gene_associated_with_condition MONDO:0009662 infores:ubergraph knowledge_assertion manual_agent HGNC:4696 MONDO:0009662 NCBIGene:8823 biolink:gene_associated_with_condition MONDO:0010669 infores:ubergraph knowledge_assertion manual_agent HGNC:3672 MONDO:0010669 NCBIGene:6495 biolink:gene_associated_with_condition MONDO:0012025 infores:ubergraph knowledge_assertion manual_agent HGNC:10887 MONDO:0012025 NCBIGene:4841 biolink:gene_associated_with_condition MONDO:0010501 infores:ubergraph knowledge_assertion manual_agent HGNC:7871 MONDO:0010501 NCBIGene:57152 biolink:gene_associated_with_condition MONDO:0009552 infores:clingen NCBIGene:57152 MONDO:0009552 Gene associated with autosomal recessive phenotype 30 NCBIGene:54413 biolink:gene_associated_with_condition MONDO:0010321 infores:ubergraph knowledge_assertion manual_agent HGNC:14289 MONDO:0010321 NCBIGene:7399 biolink:gene_associated_with_condition MONDO:0010169 infores:ubergraph knowledge_assertion manual_agent HGNC:12601 MONDO:0010169 NCBIGene:58472 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:20390 MONDO:0009723 Limited 2021-01-21T00:51:24.845Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09ea3b0c-cc3a-44d1-a702-9f1674c33040-2021-01-21T005124.845Z AR Autosomal Recessive 0000007 NCBIGene:3998 biolink:gene_associated_with_condition MONDO:0009206 infores:clingen NCBIGene:3998 MONDO:0009206 Definitive 2019-11-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31792b8d-aca4-4832-b7f7-1993611777d7-2019-11-27T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7466 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:12762 MONDO:0019497 Definitive 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7e402fa-b5b4-4b97-a3e1-ff4640c9bd5a-2024-06-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5557 biolink:gene_associated_with_condition MONDO:0859276 infores:ubergraph knowledge_assertion manual_agent HGNC:9369 MONDO:0859276 NCBIGene:8542 biolink:gene_associated_with_condition MONDO:0012931 infores:ubergraph knowledge_assertion manual_agent HGNC:618 MONDO:0012931 NCBIGene:8087 biolink:gene_associated_with_condition MONDO:0032937 infores:ubergraph knowledge_assertion manual_agent HGNC:4023 MONDO:0032937 NCBIGene:54332 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:15968 MONDO:0015626 Definitive 2020-07-28T14:42:11.873Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6d93637-02f5-4f5d-b7a9-17356f084149-2020-07-28T144211.873Z SD Semidominant 0032113 NCBIGene:57639 biolink:gene_associated_with_condition MONDO:0971002 infores:ubergraph knowledge_assertion manual_agent HGNC:29296 MONDO:0971002 NCBIGene:100288687 biolink:gene_associated_with_condition MONDO:0008031 infores:ubergraph knowledge_assertion manual_agent HGNC:50800 MONDO:0008031 NCBIGene:55699 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:29685 MONDO:0009723 Limited 2019-11-25T15:44:42.667Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50877212-c671-406b-8cb6-195c7369a96c-2019-11-25T154442.667Z AR Autosomal Recessive 0000007 NCBIGene:6324 biolink:gene_associated_with_condition MONDO:0014155 infores:ubergraph knowledge_assertion manual_agent HGNC:10586 MONDO:0014155 NCBIGene:2632 biolink:gene_associated_with_condition MONDO:0009292 infores:clingen NCBIGene:2632 MONDO:0009292 Definitive 2023-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f01d412-0f6d-4a0f-88db-b55b2af4a0a2-2023-09-21T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:55733 biolink:gene_associated_with_condition MONDO:0010814 infores:ubergraph knowledge_assertion manual_agent HGNC:18270 MONDO:0010814 NCBIGene:51702 biolink:gene_associated_with_condition MONDO:0020736 infores:ubergraph knowledge_assertion manual_agent HGNC:18337 MONDO:0020736 NCBIGene:1861 biolink:gene_associated_with_condition MONDO:0100218 infores:ubergraph knowledge_assertion manual_agent HGNC:3098 MONDO:0100218 NCBIGene:23533 biolink:gene_associated_with_condition MONDO:0014084 infores:ubergraph knowledge_assertion manual_agent HGNC:30035 MONDO:0014084 NCBIGene:6905 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6905 MONDO:0700096 No evidence available 0 true NCBIGene:16 biolink:gene_associated_with_condition MONDO:1010132 infores:ubergraph knowledge_assertion manual_agent HGNC:20 MONDO:1010132 NCBIGene:5962 biolink:gene_associated_with_condition MONDO:0012602 infores:ubergraph knowledge_assertion manual_agent HGNC:9944 MONDO:0012602 NCBIGene:51126 biolink:gene_associated_with_condition MONDO:0030533 infores:ubergraph knowledge_assertion manual_agent HGNC:15908 MONDO:0030533 NCBIGene:3313 biolink:gene_associated_with_condition MONDO:0008422 infores:ubergraph knowledge_assertion manual_agent HGNC:5244 MONDO:0008422 NCBIGene:89891 biolink:gene_associated_with_condition MONDO:0014287 infores:ubergraph knowledge_assertion manual_agent HGNC:28296 MONDO:0014287 NCBIGene:84667 biolink:gene_associated_with_condition MONDO:0013366 infores:ubergraph knowledge_assertion manual_agent HGNC:15977 MONDO:0013366 NCBIGene:55278 biolink:gene_associated_with_condition MONDO:0030006 infores:ubergraph knowledge_assertion manual_agent HGNC:21020 MONDO:0030006 NCBIGene:3265 biolink:gene_associated_with_condition MONDO:0011899 infores:clingen HGNC:5173 MONDO:0011899 Disputed 2018-07-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94630309-c540-48b3-a27f-0ee1891091c1-2018-07-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6390 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen NCBIGene:6390 MONDO:0017366 Definitive 2021-06-17T01:21:05.373Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5b8852d-1641-4c45-8aa2-57c2dfbac4ea-2021-06-17T012105.373Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:11081 biolink:gene_associated_with_condition MONDO:0009014 infores:ubergraph knowledge_assertion manual_agent HGNC:6309 MONDO:0009014 NCBIGene:51339 biolink:gene_associated_with_condition MONDO:0054582 infores:ubergraph knowledge_assertion manual_agent HGNC:17748 MONDO:0054582 NCBIGene:4654 biolink:gene_associated_with_condition MONDO:0033548 infores:ubergraph knowledge_assertion manual_agent HGNC:7611 MONDO:0033548 NCBIGene:427 biolink:gene_associated_with_condition MONDO:0100524 infores:clingen HGNC:735 MONDO:0100524 Definitive 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7d25555-4d27-4fd4-8619-cdf78b50701a-2023-10-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10594 biolink:gene_associated_with_condition MONDO:0700234 infores:clingen HGNC:17340 MONDO:0700234 Definitive 2023-04-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9efbbc3-6ce1-4f92-8472-627c2060dd88-2023-04-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0008734 infores:ubergraph knowledge_assertion manual_agent HGNC:11998 MONDO:0008734 NCBIGene:72 biolink:gene_associated_with_condition MONDO:0030329 infores:ubergraph knowledge_assertion manual_agent HGNC:145 MONDO:0030329 NCBIGene:675 biolink:gene_associated_with_condition MONDO:0700269 infores:ubergraph knowledge_assertion manual_agent HGNC:1101 MONDO:0700269 NCBIGene:5498 biolink:gene_associated_with_condition MONDO:0008297 infores:clingen HGNC:9280 MONDO:0008297 Strong 2024-06-02T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_640ca35e-1c12-4108-a6d7-93e0b7989f48-2024-06-02T190000.000Z SD Semidominant 0032113 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007041 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0007041 NCBIGene:4635 biolink:gene_associated_with_condition MONDO:0015001 infores:ubergraph knowledge_assertion manual_agent HGNC:7585 MONDO:0015001 NCBIGene:55617 biolink:gene_associated_with_condition MONDO:0033532 infores:ubergraph knowledge_assertion manual_agent HGNC:15859 MONDO:0033532 NCBIGene:3704 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:6176 MONDO:0100062 Definitive 2024-02-06T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afbea76e-09de-48c6-b7b3-0c89109f4253-2024-02-06T200000.000Z AR Autosomal Recessive 0000007 NCBIGene:10564 biolink:gene_associated_with_condition MONDO:0011966 infores:ubergraph knowledge_assertion manual_agent HGNC:15853 MONDO:0011966 NCBIGene:3767 biolink:gene_associated_with_condition MONDO:0012522 infores:ubergraph knowledge_assertion manual_agent HGNC:6257 MONDO:0012522 NCBIGene:6096 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6096 MONDO:0100038 Definitive 2024-05-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88c55f22-3f6f-467a-b38b-267f93d6cc9a-2024-05-21T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9839 biolink:gene_associated_with_condition MONDO:0009341 infores:clingen NCBIGene:9839 MONDO:0009341 Definitive 2018-05-23T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb06ff0d-1cc6-494c-9ce5-f7cb26f34620-2018-05-23T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:375611 biolink:gene_associated_with_condition MONDO:0013471 infores:ubergraph knowledge_assertion manual_agent HGNC:9359 MONDO:0013471 NCBIGene:5826 biolink:gene_associated_with_condition MONDO:0013925 infores:ubergraph knowledge_assertion manual_agent HGNC:68 MONDO:0013925 NCBIGene:93649 biolink:gene_associated_with_condition MONDO:0032879 infores:ubergraph knowledge_assertion manual_agent HGNC:16067 MONDO:0032879 NCBIGene:3889 biolink:gene_associated_with_condition MONDO:0033015 infores:ubergraph knowledge_assertion manual_agent HGNC:6460 MONDO:0033015 NCBIGene:1186 biolink:gene_associated_with_condition MONDO:0008156 infores:clingen HGNC:2025 MONDO:0008156 Definitive 2023-12-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23840c1f-9d30-4ccf-9fc0-604a0cb12eb4-2023-12-04T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:92949 biolink:gene_associated_with_condition MONDO:0035027 infores:ubergraph knowledge_assertion manual_agent HGNC:14632 MONDO:0035027 NCBIGene:54777 biolink:gene_associated_with_condition MONDO:1010146 infores:ubergraph knowledge_assertion manual_agent HGNC:25247 MONDO:1010146 NCBIGene:57466 biolink:gene_associated_with_condition MONDO:0957787 infores:ubergraph knowledge_assertion manual_agent HGNC:19304 MONDO:0957787 NCBIGene:57449 biolink:gene_associated_with_condition MONDO:0014154 infores:ubergraph knowledge_assertion manual_agent HGNC:29105 MONDO:0014154 NCBIGene:5083 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5083 MONDO:0700096 No evidence available 0 true NCBIGene:27151 biolink:gene_associated_with_condition MONDO:0015017 infores:ubergraph knowledge_assertion manual_agent HGNC:23228 MONDO:0015017 NCBIGene:3329 biolink:gene_associated_with_condition MONDO:0012824 infores:ubergraph knowledge_assertion manual_agent HGNC:5261 MONDO:0012824 NCBIGene:57152 biolink:gene_associated_with_condition MONDO:0009552 infores:ubergraph knowledge_assertion manual_agent HGNC:18746 MONDO:0009552 NCBIGene:1984 biolink:gene_associated_with_condition MONDO:0859163 infores:ubergraph knowledge_assertion manual_agent HGNC:3300 MONDO:0859163 NCBIGene:3077 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3077 MONDO:0700096 No evidence available 0 true NCBIGene:51163 biolink:gene_associated_with_condition MONDO:0030334 infores:ubergraph knowledge_assertion manual_agent HGNC:15594 MONDO:0030334 NCBIGene:6327 biolink:gene_associated_with_condition MONDO:0014156 infores:ubergraph knowledge_assertion manual_agent HGNC:10589 MONDO:0014156 NCBIGene:169522 biolink:gene_associated_with_condition MONDO:1040063 infores:ubergraph knowledge_assertion manual_agent HGNC:19698 MONDO:1040063 NCBIGene:199223 biolink:gene_associated_with_condition MONDO:0032744 infores:ubergraph knowledge_assertion manual_agent HGNC:30761 MONDO:0032744 NCBIGene:23562 biolink:gene_associated_with_condition MONDO:0013537 infores:ubergraph knowledge_assertion manual_agent HGNC:2035 MONDO:0013537 NCBIGene:8985 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8985 MONDO:0700096 No evidence available 0 true NCBIGene:256471 biolink:gene_associated_with_condition MONDO:0012588 infores:clingen NCBIGene:256471 MONDO:0012588 Gene associated with autosomal recessive phenotype 30 NCBIGene:121512 biolink:gene_associated_with_condition MONDO:0012250 infores:ubergraph knowledge_assertion manual_agent HGNC:19125 MONDO:0012250 NCBIGene:23137 biolink:gene_associated_with_condition MONDO:0859576 infores:ubergraph knowledge_assertion manual_agent HGNC:20465 MONDO:0859576 NCBIGene:10280 biolink:gene_associated_with_condition MONDO:0013715 infores:ubergraph knowledge_assertion manual_agent HGNC:8157 MONDO:0013715 NCBIGene:8425 biolink:gene_associated_with_condition MONDO:0013170 infores:ubergraph knowledge_assertion manual_agent HGNC:6717 MONDO:0013170 NCBIGene:126410 biolink:gene_associated_with_condition MONDO:0011485 infores:ubergraph knowledge_assertion manual_agent HGNC:26820 MONDO:0011485 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0007514 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0007514 NCBIGene:55367 biolink:gene_associated_with_condition MONDO:0030785 infores:clingen HGNC:16491 MONDO:0030785 Definitive 2024-06-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_021d5aa5-6447-4b49-a748-219c4dd356f4-2024-06-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6722 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:11291 MONDO:0005453 Limited 2024-04-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b290d584-f0be-49b7-bcc6-14da986e82ed-2024-04-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2692 biolink:gene_associated_with_condition MONDO:0032567 infores:ubergraph knowledge_assertion manual_agent HGNC:4266 MONDO:0032567 NCBIGene:6295 biolink:gene_associated_with_condition MONDO:0013407 infores:ubergraph knowledge_assertion manual_agent HGNC:10521 MONDO:0013407 NCBIGene:83990 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83990 MONDO:0700096 No evidence available 0 true NCBIGene:7317 biolink:gene_associated_with_condition MONDO:0010532 infores:ubergraph knowledge_assertion manual_agent HGNC:12469 MONDO:0010532 NCBIGene:658 biolink:gene_associated_with_condition MONDO:0012274 infores:ubergraph knowledge_assertion manual_agent HGNC:1077 MONDO:0012274 NCBIGene:4892 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7988 MONDO:0005021 Strong 2024-07-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f72c0812-9782-444c-a87c-b50286bbfd09-2024-07-26T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:166785 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:166785 MONDO:0700096 No evidence available 0 true NCBIGene:23247 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:29068 MONDO:0005308 Definitive 2023-07-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ec67a40-fd4c-4eb8-b90d-e0b3fc4f0133-2023-07-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55687 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55687 MONDO:0700096 No evidence available 0 true NCBIGene:285362 biolink:gene_associated_with_condition MONDO:0010088 infores:clingen NCBIGene:285362 MONDO:0010088 Definitive 2022-09-06T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d64d13d-c2dc-4749-8330-fade259ca381-2022-09-06T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1028 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1028 MONDO:0700096 No evidence available 0 true NCBIGene:29098 biolink:gene_associated_with_condition MONDO:0015263 infores:clingen HGNC:17679 MONDO:0015263 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10157 AD Autosomal Dominant 0000006 NCBIGene:23209 biolink:gene_associated_with_condition MONDO:0024555 infores:clingen NCBIGene:23209 MONDO:0024555 Definitive 2024-11-25T08:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf223498-7297-4fe5-8476-95cb8ff3145d-2024-11-25T080000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2495 biolink:gene_associated_with_condition MONDO:0958012 infores:clingen HGNC:3976 MONDO:0958012 Moderate 2025-09-23T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32fde665-99c7-4034-8830-80c9558ccada-2025-09-23T063000.000Z AD Autosomal Dominant 0000006 NCBIGene:10370 biolink:gene_associated_with_condition MONDO:0000119 infores:clingen NCBIGene:10370 MONDO:0000119 true No evidence available 0 NCBIGene:4330 biolink:gene_associated_with_condition MONDO:0032908 infores:ubergraph knowledge_assertion manual_agent HGNC:7180 MONDO:0032908 NCBIGene:5966 biolink:gene_associated_with_condition MONDO:0030498 infores:clingen HGNC:9954 MONDO:0030498 Moderate 2023-03-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed422cfb-0cf3-44ec-8f36-5faace1a577d-2023-03-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2259 biolink:gene_associated_with_condition MONDO:0012247 infores:ubergraph knowledge_assertion manual_agent HGNC:3671 MONDO:0012247 NCBIGene:63976 biolink:gene_associated_with_condition MONDO:0014152 infores:ubergraph knowledge_assertion manual_agent HGNC:14000 MONDO:0014152 NCBIGene:1826 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1826 MONDO:0700096 No evidence available 0 true NCBIGene:84665 biolink:gene_associated_with_condition MONDO:0014100 infores:ubergraph knowledge_assertion manual_agent HGNC:23246 MONDO:0014100 NCBIGene:1355 biolink:gene_associated_with_condition MONDO:0014051 infores:ubergraph knowledge_assertion manual_agent HGNC:2263 MONDO:0014051 NCBIGene:10020 biolink:gene_associated_with_condition MONDO:0011603 infores:ubergraph knowledge_assertion manual_agent HGNC:23657 MONDO:0011603 NCBIGene:440193 biolink:gene_associated_with_condition MONDO:0009360 infores:ubergraph knowledge_assertion manual_agent HGNC:19967 MONDO:0009360 NCBIGene:55325 biolink:gene_associated_with_condition MONDO:0007726 infores:ubergraph knowledge_assertion manual_agent HGNC:25640 MONDO:0007726 NCBIGene:4646 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7605 MONDO:0019497 Definitive 2018-02-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50d408fe-e298-4683-985c-57a37b30e273-2018-02-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:123263 biolink:gene_associated_with_condition MONDO:0013987 infores:ubergraph knowledge_assertion manual_agent HGNC:29666 MONDO:0013987 NCBIGene:3053 biolink:gene_associated_with_condition MONDO:0012876 infores:clingen NCBIGene:3053 MONDO:0012876 Definitive 2020-11-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0888745c-f1e6-4af7-bdcd-bd229f043f07-2020-11-18T170000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:2052 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:3401 MONDO:0018630 Limited 2016-11-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8431 AD Autosomal Dominant 0000006 NCBIGene:152137 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:18111 MONDO:0019497 Limited 2024-06-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf656dcb-6644-41bb-a29a-d7bdf54b28f7-2024-06-25T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5965 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5965 MONDO:0700096 true Gene associated with autosomal recessive phenotype 30 NCBIGene:23221 biolink:gene_associated_with_condition MONDO:0033373 infores:ubergraph knowledge_assertion manual_agent HGNC:18756 MONDO:0033373 NCBIGene:4948 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4948 MONDO:0700096 No evidence available 0 true NCBIGene:1773 biolink:gene_associated_with_condition MONDO:0007915 infores:clingen HGNC:2956 MONDO:0007915 Limited 2024-06-14T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b71d9246-5a7e-4e81-8fc6-925181d124cd-2024-06-14T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:121278 biolink:gene_associated_with_condition MONDO:0013076 infores:ubergraph knowledge_assertion manual_agent HGNC:20692 MONDO:0013076 NCBIGene:4210 biolink:gene_associated_with_condition MONDO:0011959 infores:ubergraph knowledge_assertion manual_agent HGNC:6998 MONDO:0011959 NCBIGene:473 biolink:gene_associated_with_condition MONDO:0100465 infores:clingen HGNC:9965 MONDO:0100465 Definitive 2023-03-21T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdf18409-7db7-4934-9bc7-99eea21d9058-2023-03-21T110000.000Z AD Autosomal Dominant 0000006 NCBIGene:939 biolink:gene_associated_with_condition MONDO:0014054 infores:clingen NCBIGene:939 MONDO:0014054 Gene associated with autosomal recessive phenotype 30 NCBIGene:60386 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:60386 MONDO:0700096 No evidence available 0 true NCBIGene:60 biolink:gene_associated_with_condition MONDO:0009470 infores:ubergraph knowledge_assertion manual_agent HGNC:132 MONDO:0009470 NCBIGene:3908 biolink:gene_associated_with_condition MONDO:0100228 infores:clingen NCBIGene:3908 MONDO:0100228 Definitive 2022-03-14T20:46:07.096Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53f18520-6a7c-4781-ad0e-09250570f10e-2022-03-14T204607.096Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1896 biolink:gene_associated_with_condition MONDO:0010585 infores:clingen NCBIGene:1896 MONDO:0010585 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7503 biolink:gene_associated_with_condition MONDO:0026404 infores:clingen NCBIGene:7503 MONDO:0026404 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57670 biolink:gene_associated_with_condition MONDO:0032834 infores:clingen HGNC:22219 MONDO:0032834 Strong 2025-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68fbf814-eb62-4a4e-b3a7-2fdd90a05029-2025-02-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7490 MONDO:0700096 No evidence available 0 true NCBIGene:5015 biolink:gene_associated_with_condition MONDO:0012413 infores:clingen NCBIGene:5015 MONDO:0012413 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3030 biolink:gene_associated_with_condition MONDO:0012173 infores:clingen HGNC:4801 MONDO:0012173 Definitive 2018-02-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8a5e15b-21f7-49cc-987c-5f3585742bbe-2018-02-12T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:129563 biolink:gene_associated_with_condition MONDO:0009965 infores:ubergraph knowledge_assertion manual_agent HGNC:28648 MONDO:0009965 NCBIGene:3737 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3737 MONDO:0700096 No evidence available 0 true NCBIGene:4628 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4628 MONDO:0700096 No evidence available 0 true NCBIGene:4009 biolink:gene_associated_with_condition MONDO:0011074 infores:ubergraph knowledge_assertion manual_agent HGNC:6653 MONDO:0011074 NCBIGene:222546 biolink:gene_associated_with_condition MONDO:0017400 infores:clingen NCBIGene:222546 MONDO:0017400 Gene associated with autosomal recessive phenotype 30 NCBIGene:8710 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8710 MONDO:0700096 No evidence available 0 true NCBIGene:115286 biolink:gene_associated_with_condition MONDO:0014775 infores:ubergraph knowledge_assertion manual_agent HGNC:20661 MONDO:0014775 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007405 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0007405 NCBIGene:4792 biolink:gene_associated_with_condition MONDO:0012806 infores:clingen HGNC:7797 MONDO:0012806 Definitive 2025-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3333d698-dd58-4601-80b9-1892f2893bdf-2025-02-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:79443 biolink:gene_associated_with_condition MONDO:0012395 infores:ubergraph knowledge_assertion manual_agent HGNC:14673 MONDO:0012395 NCBIGene:3786 biolink:gene_associated_with_condition MONDO:0007366 infores:ubergraph knowledge_assertion manual_agent HGNC:6297 MONDO:0007366 NCBIGene:2731 biolink:gene_associated_with_condition MONDO:0958179 infores:ubergraph knowledge_assertion manual_agent HGNC:4313 MONDO:0958179 NCBIGene:56853 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:56853 MONDO:0700096 No evidence available 0 true NCBIGene:100144748 biolink:gene_associated_with_condition MONDO:0014046 infores:ubergraph knowledge_assertion manual_agent HGNC:37212 MONDO:0014046 NCBIGene:92840 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:92840 MONDO:0700096 No evidence available 0 true NCBIGene:126792 biolink:gene_associated_with_condition MONDO:0100586 infores:clingen HGNC:17978 MONDO:0100586 Definitive 2025-04-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e67a52c-3e93-4bc2-bbc6-05f8dc9be657-2025-04-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:64857 biolink:gene_associated_with_condition MONDO:0014766 infores:ubergraph knowledge_assertion manual_agent HGNC:29515 MONDO:0014766 NCBIGene:6833 biolink:gene_associated_with_condition MONDO:0009415 infores:ubergraph knowledge_assertion manual_agent HGNC:59 MONDO:0009415 NCBIGene:54805 biolink:gene_associated_with_condition MONDO:0020787 infores:ubergraph knowledge_assertion manual_agent HGNC:103 MONDO:0020787 NCBIGene:60528 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:14198 MONDO:0044970 Definitive 2022-07-21T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff57f761-51cd-41aa-a287-7387e0f5f028-2022-07-21T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:265 biolink:gene_associated_with_condition MONDO:0010521 infores:ubergraph knowledge_assertion manual_agent HGNC:461 MONDO:0010521 NCBIGene:3845 biolink:gene_associated_with_condition MONDO:0015280 infores:clingen HGNC:6407 MONDO:0015280 Strong 2018-07-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_248e0d6b-9300-4d17-a350-f742fa92c82c-2018-07-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:116931 biolink:gene_associated_with_condition MONDO:0030030 infores:clingen HGNC:16050 MONDO:0030030 Definitive 2024-11-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bf24e7c-640f-4e2b-9d6b-9517f015cfaa-2024-11-19T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:24137 biolink:gene_associated_with_condition MONDO:0100465 infores:clingen HGNC:13339 MONDO:0100465 Limited 2024-04-11T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71cd45d-9a5e-4505-bf0d-8dcaafdbe795-2024-04-11T060000.000Z XL X-linked 0001417 NCBIGene:643226 biolink:gene_associated_with_condition MONDO:0014363 infores:ubergraph knowledge_assertion manual_agent HGNC:33862 MONDO:0014363 NCBIGene:26121 biolink:gene_associated_with_condition MONDO:0800395 infores:ubergraph knowledge_assertion manual_agent HGNC:15446 MONDO:0800395 NCBIGene:153241 biolink:gene_associated_with_condition MONDO:0033310 infores:ubergraph knowledge_assertion manual_agent HGNC:26690 MONDO:0033310 NCBIGene:284403 biolink:gene_associated_with_condition MONDO:0011435 infores:clingen NCBIGene:284403 MONDO:0011435 Definitive 2020-05-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdbcb9de-2ded-46a0-a6d0-16b34ea22008-2020-05-26T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2731 biolink:gene_associated_with_condition MONDO:0011612 infores:clingen NCBIGene:2731 MONDO:0011612 Definitive 2019-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14d991f3-25f3-40c9-aacd-c1a008d9eaea-2019-02-06T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6497 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6497 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:60506 biolink:gene_associated_with_condition MONDO:0010690 infores:clingen NCBIGene:60506 MONDO:0010690 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23592 biolink:gene_associated_with_condition MONDO:0008157 infores:ubergraph knowledge_assertion manual_agent HGNC:28887 MONDO:0008157 NCBIGene:55906 biolink:gene_associated_with_condition MONDO:0010758 infores:clingen NCBIGene:55906 MONDO:0010758 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7227 biolink:gene_associated_with_condition MONDO:0008596 infores:clingen NCBIGene:7227 MONDO:0008596 Sufficient evidence for dosage pathogenicity 3 NCBIGene:732 biolink:gene_associated_with_condition MONDO:0013421 infores:ubergraph knowledge_assertion manual_agent HGNC:1353 MONDO:0013421 NCBIGene:161582 biolink:gene_associated_with_condition MONDO:0014203 infores:clingen HGNC:21493 MONDO:0014203 Definitive 2024-04-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79950f5d-fd90-4765-9f8a-489c3f862fcd-2024-04-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23175 biolink:gene_associated_with_condition MONDO:0009992 infores:clingen HGNC:13345 MONDO:0009992 Definitive 2018-09-25T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_642c8d4a-d498-4739-957d-a4e0d457362a-2018-09-25T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1374 biolink:gene_associated_with_condition MONDO:0009705 infores:clingen NCBIGene:1374 MONDO:0009705 Definitive 2018-01-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcea255c-11e4-46fd-b0f7-2de68311a75c-2018-01-23T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:374291 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:374291 MONDO:0009723 Moderate 2019-11-25T16:00:08.570Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b702a150-de60-429e-bb12-ba8cde1483e7-2019-11-25T160008.570Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1259 biolink:gene_associated_with_condition MONDO:0800405 infores:clingen HGNC:2148 MONDO:0800405 Definitive 2022-10-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdf9374a-2ec6-4852-ac0b-ec1a3e638245-2022-10-06T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57670 biolink:gene_associated_with_condition MONDO:0032834 infores:ubergraph knowledge_assertion manual_agent HGNC:22219 MONDO:0032834 NCBIGene:10073 biolink:gene_associated_with_condition MONDO:0100584 infores:ubergraph knowledge_assertion manual_agent HGNC:14245 MONDO:0100584 NCBIGene:4208 biolink:gene_associated_with_condition MONDO:0013266 infores:ubergraph knowledge_assertion manual_agent HGNC:6996 MONDO:0013266 NCBIGene:3815 biolink:gene_associated_with_condition MONDO:0035445 infores:ubergraph knowledge_assertion manual_agent HGNC:6342 MONDO:0035445 NCBIGene:4638 biolink:gene_associated_with_condition MONDO:0013418 infores:clingen NCBIGene:4638 MONDO:0013418 true Little evidence for dosage pathogenicity 1 NCBIGene:3156 biolink:gene_associated_with_condition MONDO:0957270 infores:ubergraph knowledge_assertion manual_agent HGNC:5006 MONDO:0957270 NCBIGene:54820 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54820 MONDO:0700096 No evidence available 0 true NCBIGene:100131801 biolink:gene_associated_with_condition MONDO:0033646 infores:ubergraph knowledge_assertion manual_agent HGNC:40038 MONDO:0033646 NCBIGene:348980 biolink:gene_associated_with_condition MONDO:0018214 infores:clingen HGNC:4845 MONDO:0018214 Definitive 2023-01-03T08:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0932fa23-e0d2-4fa8-80ac-1ab9bfac974d-2023-01-03T080000.000Z AD Autosomal Dominant 0000006 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0018919 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0018919 NCBIGene:3694 biolink:gene_associated_with_condition MONDO:0014540 infores:ubergraph knowledge_assertion manual_agent HGNC:6161 MONDO:0014540 NCBIGene:641 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:641 MONDO:0700096 No evidence available 0 true NCBIGene:83636 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:83636 MONDO:0700096 No evidence available 0 true NCBIGene:2632 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2632 MONDO:0700096 No evidence available 0 true NCBIGene:4126 biolink:gene_associated_with_condition MONDO:0009562 infores:clingen HGNC:6831 MONDO:0009562 Definitive 2022-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70d38aa-f7e9-4c93-8160-58dec9cec010-2022-08-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6091 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:10249 MONDO:0005453 Limited 2024-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0d0c93c-abf7-4bf2-8b0f-e47cfce87656-2024-09-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:731 biolink:gene_associated_with_condition MONDO:0013422 infores:ubergraph knowledge_assertion manual_agent HGNC:1352 MONDO:0013422 NCBIGene:659 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:659 MONDO:0700096 No evidence available 0 true NCBIGene:3868 biolink:gene_associated_with_condition MONDO:0008173 infores:ubergraph knowledge_assertion manual_agent HGNC:6423 MONDO:0008173 NCBIGene:83990 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen NCBIGene:83990 MONDO:0016248 Definitive 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1224a6d-5676-4109-b844-a577bd0bff62-2023-12-20T180000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6426 biolink:gene_associated_with_condition MONDO:0957583 infores:ubergraph knowledge_assertion manual_agent HGNC:10780 MONDO:0957583 NCBIGene:5350 biolink:gene_associated_with_condition MONDO:0013475 infores:ubergraph knowledge_assertion manual_agent HGNC:9080 MONDO:0013475 NCBIGene:2036 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:3378 MONDO:0100038 Limited 2022-07-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3be1f426-ad87-4540-9582-a9dcf96ffddd-2022-07-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:716 biolink:gene_associated_with_condition MONDO:0014954 infores:ubergraph knowledge_assertion manual_agent HGNC:1247 MONDO:0014954 NCBIGene:79902 biolink:gene_associated_with_condition MONDO:0032580 infores:ubergraph knowledge_assertion manual_agent HGNC:8734 MONDO:0032580 NCBIGene:3172 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen NCBIGene:3172 MONDO:0015967 Definitive 2019-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98cb808e-02d3-4378-8e6b-9b1b2883cc65-2019-02-27T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:677814 biolink:gene_associated_with_condition MONDO:0030313 infores:ubergraph knowledge_assertion manual_agent HGNC:32621 MONDO:0030313 NCBIGene:8600 biolink:gene_associated_with_condition MONDO:0009816 infores:clingen HGNC:11926 MONDO:0009816 Definitive 2024-12-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90e426a0-23df-43d0-951c-ab6d7eb41158-2024-12-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:64087 biolink:gene_associated_with_condition MONDO:0008862 infores:ubergraph knowledge_assertion manual_agent HGNC:6937 MONDO:0008862 NCBIGene:1663 biolink:gene_associated_with_condition MONDO:0013252 infores:clingen HGNC:2736 MONDO:0013252 Definitive 2025-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99d606e6-7d37-4502-bf44-bbf2db469459-2025-02-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:23269 biolink:gene_associated_with_condition MONDO:0976129 infores:ubergraph knowledge_assertion manual_agent HGNC:14010 MONDO:0976129 NCBIGene:27232 biolink:gene_associated_with_condition MONDO:0011698 infores:ubergraph knowledge_assertion manual_agent HGNC:4415 MONDO:0011698 NCBIGene:3712 biolink:gene_associated_with_condition MONDO:0009475 infores:clingen HGNC:6186 MONDO:0009475 Definitive 2019-05-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05f5d468-2f46-44f3-ba67-c4e708d2954f-2019-05-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:678 biolink:gene_associated_with_condition MONDO:0859330 infores:ubergraph knowledge_assertion manual_agent HGNC:1108 MONDO:0859330 NCBIGene:4724 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:4724 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:81545 biolink:gene_associated_with_condition MONDO:0018894 infores:clingen HGNC:28844 MONDO:0018894 Moderate 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_350c1f45-5afd-4f36-8973-94acaf7bb961-2023-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:3459 biolink:gene_associated_with_condition MONDO:0008856 infores:ubergraph knowledge_assertion manual_agent HGNC:5439 MONDO:0008856 NCBIGene:25886 biolink:gene_associated_with_condition MONDO:0013894 infores:ubergraph knowledge_assertion manual_agent HGNC:24488 MONDO:0013894 NCBIGene:146059 biolink:gene_associated_with_condition MONDO:0009135 infores:clingen NCBIGene:146059 MONDO:0009135 Definitive 2025-01-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9465f7d-4fc8-49b6-aa2c-4b92eb5f8c32-2025-01-07T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6997 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6997 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:8029 biolink:gene_associated_with_condition MONDO:0100156 infores:ubergraph knowledge_assertion manual_agent HGNC:2548 MONDO:0100156 NCBIGene:286077 biolink:gene_associated_with_condition MONDO:0007538 infores:ubergraph knowledge_assertion manual_agent HGNC:24797 MONDO:0007538 NCBIGene:3786 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:6297 MONDO:0100062 Limited 2023-08-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_610858f1-e0cf-4db1-ae6c-95a1364b621e-2023-08-01T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:11311 biolink:gene_associated_with_condition MONDO:0014118 infores:ubergraph knowledge_assertion manual_agent HGNC:14579 MONDO:0014118 NCBIGene:846 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:1514 MONDO:0005027 Disputed 2021-03-03T12:38:27.967Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ddebf083-3434-4401-9b6b-9ec24aceec89-2021-03-03T123827.967Z AD Autosomal Dominant 0000006 NCBIGene:84976 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:84976 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1302 biolink:gene_associated_with_condition MONDO:0044206 infores:ubergraph knowledge_assertion manual_agent HGNC:2187 MONDO:0044206 NCBIGene:10464 biolink:gene_associated_with_condition MONDO:0005308 infores:clingen HGNC:23352 MONDO:0005308 Moderate 2023-09-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf72e5f0-a64d-4fb9-9a9b-07fef481bf56-2023-09-27T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4568 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7491 MONDO:0044970 Definitive 2023-06-05T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cd5832f-dd32-4217-bec4-93bd4b7b6618-2023-06-05T040000.000Z MT Mitochondrial 0001427 NCBIGene:6916 biolink:gene_associated_with_condition MONDO:0009274 infores:ubergraph knowledge_assertion manual_agent HGNC:11609 MONDO:0009274 NCBIGene:50617 biolink:gene_associated_with_condition MONDO:0011268 infores:clingen NCBIGene:50617 MONDO:0011268 Gene associated with autosomal recessive phenotype 30 NCBIGene:10714 biolink:gene_associated_with_condition MONDO:0971151 infores:ubergraph knowledge_assertion manual_agent HGNC:20932 MONDO:0971151 NCBIGene:477 biolink:gene_associated_with_condition MONDO:0007087 infores:ubergraph knowledge_assertion manual_agent HGNC:800 MONDO:0007087 NCBIGene:7862 biolink:gene_associated_with_condition MONDO:0015022 infores:clingen NCBIGene:7862 MONDO:0015022 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51114 biolink:gene_associated_with_condition MONDO:0010427 infores:ubergraph knowledge_assertion manual_agent HGNC:18475 MONDO:0010427 NCBIGene:80320 biolink:gene_associated_with_condition MONDO:0031084 infores:ubergraph knowledge_assertion manual_agent HGNC:14530 MONDO:0031084 NCBIGene:5138 biolink:gene_associated_with_condition MONDO:0030900 infores:ubergraph knowledge_assertion manual_agent HGNC:8777 MONDO:0030900 NCBIGene:124590 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:124590 MONDO:0700096 No evidence available 0 true NCBIGene:249 biolink:gene_associated_with_condition MONDO:0018570 infores:ubergraph knowledge_assertion manual_agent HGNC:438 MONDO:0018570 NCBIGene:8050 biolink:gene_associated_with_condition MONDO:0009503 infores:ubergraph knowledge_assertion manual_agent HGNC:21350 MONDO:0009503 NCBIGene:254065 biolink:gene_associated_with_condition MONDO:0100284 infores:clingen NCBIGene:254065 MONDO:0100284 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2070 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2070 MONDO:0700096 No evidence available 0 true NCBIGene:6611 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6611 MONDO:0700096 No evidence available 0 true NCBIGene:51168 biolink:gene_associated_with_condition MONDO:0010860 infores:clingen NCBIGene:51168 MONDO:0010860 Gene associated with autosomal recessive phenotype 30 NCBIGene:1536 biolink:gene_associated_with_condition MONDO:0010600 infores:ubergraph knowledge_assertion manual_agent HGNC:2578 MONDO:0010600 NCBIGene:1438 biolink:gene_associated_with_condition MONDO:0012580 infores:clingen NCBIGene:1438 MONDO:0012580 Gene associated with autosomal recessive phenotype 30 NCBIGene:51103 biolink:gene_associated_with_condition MONDO:0032617 infores:ubergraph knowledge_assertion manual_agent HGNC:18828 MONDO:0032617 NCBIGene:9987 biolink:gene_associated_with_condition MONDO:0012193 infores:ubergraph knowledge_assertion manual_agent HGNC:5037 MONDO:0012193 NCBIGene:23096 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen NCBIGene:23096 MONDO:0100148 Definitive 2019-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0916cda1-5213-4f88-9835-34c3931526a2-2019-06-05T160000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4015 biolink:gene_associated_with_condition MONDO:0014950 infores:ubergraph knowledge_assertion manual_agent HGNC:6664 MONDO:0014950 NCBIGene:3315 biolink:gene_associated_with_condition MONDO:0011687 infores:clingen HGNC:5246 MONDO:0011687 Definitive 2022-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec365e-7832-41f1-89cc-48b8ab570c76-2022-08-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8540 biolink:gene_associated_with_condition MONDO:0100274 infores:ubergraph knowledge_assertion manual_agent HGNC:327 MONDO:0100274 NCBIGene:4747 biolink:gene_associated_with_condition MONDO:0015626 infores:clingen HGNC:7739 MONDO:0015626 Definitive 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ec533a-b1cb-4d1d-b12a-61ee6ac6ab07-2023-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:26523 biolink:gene_associated_with_condition MONDO:0859531 infores:ubergraph knowledge_assertion manual_agent HGNC:3262 MONDO:0859531 NCBIGene:8074 biolink:gene_associated_with_condition MONDO:0008660 infores:ubergraph knowledge_assertion manual_agent HGNC:3680 MONDO:0008660 NCBIGene:4598 biolink:gene_associated_with_condition MONDO:0009849 infores:ubergraph knowledge_assertion manual_agent HGNC:7530 MONDO:0009849 NCBIGene:200879 biolink:gene_associated_with_condition MONDO:0011452 infores:ubergraph knowledge_assertion manual_agent HGNC:18483 MONDO:0011452 NCBIGene:4705 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen NCBIGene:4705 MONDO:0009723 Limited 2019-11-25T16:20:49.949Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e40eec3c-0ce0-442e-9058-6bf4d90d6dc3-2019-11-25T162049.949Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4023 biolink:gene_associated_with_condition MONDO:0009387 infores:ubergraph knowledge_assertion manual_agent HGNC:6677 MONDO:0009387 NCBIGene:348 biolink:gene_associated_with_condition MONDO:0012725 infores:ubergraph knowledge_assertion manual_agent HGNC:613 MONDO:0012725 NCBIGene:25977 biolink:gene_associated_with_condition MONDO:0014360 infores:ubergraph knowledge_assertion manual_agent HGNC:24539 MONDO:0014360 NCBIGene:340719 biolink:gene_associated_with_condition MONDO:0014172 infores:ubergraph knowledge_assertion manual_agent HGNC:23044 MONDO:0014172 NCBIGene:5261 biolink:gene_associated_with_condition MONDO:0013091 infores:clingen NCBIGene:5261 MONDO:0013091 Definitive 2024-08-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c598d3b3-2356-4404-ae5c-fa998c192bc4-2024-08-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:166378 biolink:gene_associated_with_condition MONDO:0014698 infores:ubergraph knowledge_assertion manual_agent HGNC:18119 MONDO:0014698 NCBIGene:4621 biolink:gene_associated_with_condition MONDO:0008338 infores:ubergraph knowledge_assertion manual_agent HGNC:7573 MONDO:0008338 NCBIGene:83879 biolink:gene_associated_with_condition MONDO:0014828 infores:ubergraph knowledge_assertion manual_agent HGNC:14628 MONDO:0014828 NCBIGene:5593 biolink:gene_associated_with_condition MONDO:0030553 infores:ubergraph knowledge_assertion manual_agent HGNC:9416 MONDO:0030553 NCBIGene:8192 biolink:gene_associated_with_condition MONDO:0013588 infores:clingen NCBIGene:8192 MONDO:0013588 Definitive 2018-03-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15291cb2-a541-4f88-91c8-0b441e3b64cb-2018-03-27T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6229 biolink:gene_associated_with_condition MONDO:0012529 infores:clingen NCBIGene:6229 MONDO:0012529 Sufficient evidence for dosage pathogenicity 3 NCBIGene:27145 biolink:gene_associated_with_condition MONDO:0958332 infores:ubergraph knowledge_assertion manual_agent HGNC:21015 MONDO:0958332 NCBIGene:3251 biolink:gene_associated_with_condition MONDO:0010298 infores:clingen NCBIGene:3251 MONDO:0010298 Definitive 2022-07-07T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f60022bb-5679-4766-ac72-2ddfd0b752ee-2022-07-07T220000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23545 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23545 MONDO:0700096 No evidence available 0 true NCBIGene:2705 biolink:gene_associated_with_condition MONDO:0010549 infores:ubergraph knowledge_assertion manual_agent HGNC:4283 MONDO:0010549 NCBIGene:60482 biolink:gene_associated_with_condition MONDO:0008024 infores:ubergraph knowledge_assertion manual_agent HGNC:14025 MONDO:0008024 NCBIGene:51119 biolink:gene_associated_with_condition MONDO:0009833 infores:clingen NCBIGene:51119 MONDO:0009833 Definitive 2020-07-30T21:04:01.699Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c2a84f0-e42d-487f-a2af-5b536a30d30c-2020-07-30T210401.699Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4056 biolink:gene_associated_with_condition MONDO:0013539 infores:ubergraph knowledge_assertion manual_agent HGNC:6719 MONDO:0013539 NCBIGene:124093 biolink:gene_associated_with_condition MONDO:0018947 infores:clingen HGNC:14153 MONDO:0018947 Limited 2019-12-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_886b45ae-232d-4635-ab94-88a0d15bbcca-2019-12-09T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:727676 biolink:gene_associated_with_condition MONDO:0013803 infores:ubergraph knowledge_assertion manual_agent HGNC:32952 MONDO:0013803 NCBIGene:57017 biolink:gene_associated_with_condition MONDO:0013840 infores:ubergraph knowledge_assertion manual_agent HGNC:25302 MONDO:0013840 NCBIGene:867 biolink:gene_associated_with_condition MONDO:0013308 infores:clingen NCBIGene:867 MONDO:0013308 Definitive 2019-04-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a1a76fd-7e23-44a7-b2fc-4495bc5d5ee6-2019-04-29T160000.000Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:8492 biolink:gene_associated_with_condition MONDO:0009580 infores:ubergraph knowledge_assertion manual_agent HGNC:9477 MONDO:0009580 NCBIGene:92344 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:92344 MONDO:0700096 No evidence available 0 true NCBIGene:444 biolink:gene_associated_with_condition MONDO:0011106 infores:ubergraph knowledge_assertion manual_agent HGNC:757 MONDO:0011106 NCBIGene:2304 biolink:gene_associated_with_condition MONDO:0014681 infores:ubergraph knowledge_assertion manual_agent HGNC:3806 MONDO:0014681 NCBIGene:472 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:472 MONDO:0700096 No evidence available 0 true NCBIGene:80736 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:13941 MONDO:0019497 Limited 2022-11-22T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ddbe083-55c3-483b-8c32-fc9bdbef10c6-2022-11-22T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:23203 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:18667 MONDO:0044970 Definitive 2023-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6020acad-80ce-430c-adfe-37ed65b0803d-2023-12-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7148 biolink:gene_associated_with_condition MONDO:0011670 infores:ubergraph knowledge_assertion manual_agent HGNC:11976 MONDO:0011670 NCBIGene:374291 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:374291 MONDO:0700096 No evidence available 0 true NCBIGene:1801 biolink:gene_associated_with_condition MONDO:0800438 infores:ubergraph knowledge_assertion manual_agent HGNC:3003 MONDO:0800438 NCBIGene:6468 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6468 MONDO:0700096 true No evidence available 0 NCBIGene:81624 biolink:gene_associated_with_condition MONDO:0012196 infores:ubergraph knowledge_assertion manual_agent HGNC:15480 MONDO:0012196 NCBIGene:1303 biolink:gene_associated_with_condition MONDO:0014654 infores:ubergraph knowledge_assertion manual_agent HGNC:2188 MONDO:0014654 NCBIGene:645104 biolink:gene_associated_with_condition MONDO:0030905 infores:ubergraph knowledge_assertion manual_agent HGNC:33939 MONDO:0030905 NCBIGene:79651 biolink:gene_associated_with_condition MONDO:0007856 infores:ubergraph knowledge_assertion manual_agent HGNC:20788 MONDO:0007856 NCBIGene:79001 biolink:gene_associated_with_condition MONDO:0011837 infores:clingen HGNC:23663 MONDO:0011837 Moderate 2025-09-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84145ffe-9835-4a3a-a2ae-6d0c6bd34007-2025-09-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:57724 biolink:gene_associated_with_condition MONDO:0009452 infores:clingen HGNC:29331 MONDO:0009452 Definitive 2024-06-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a6ae5b4-2fa4-44aa-92e1-49997f6c9a87-2024-06-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7100 biolink:gene_associated_with_condition MONDO:0011138 infores:ubergraph knowledge_assertion manual_agent HGNC:11851 MONDO:0011138 NCBIGene:6873 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6873 MONDO:0700096 No evidence available 0 true NCBIGene:8398 biolink:gene_associated_with_condition MONDO:0018307 infores:clingen NCBIGene:8398 MONDO:0018307 Gene associated with autosomal recessive phenotype 30 NCBIGene:1029 biolink:gene_associated_with_condition MONDO:0011713 infores:ubergraph knowledge_assertion manual_agent HGNC:1787 MONDO:0011713 NCBIGene:5611 biolink:gene_associated_with_condition MONDO:0014523 infores:ubergraph knowledge_assertion manual_agent HGNC:9439 MONDO:0014523 NCBIGene:79882 biolink:gene_associated_with_condition MONDO:0001071 infores:clingen HGNC:20509 MONDO:0001071 Limited 2022-11-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bd19228-7668-40f2-8fa3-8bdafe23f1d7-2022-11-16T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:30000 biolink:gene_associated_with_condition MONDO:0859197 infores:ubergraph knowledge_assertion manual_agent HGNC:19998 MONDO:0859197 NCBIGene:123624 biolink:gene_associated_with_condition MONDO:0014228 infores:ubergraph knowledge_assertion manual_agent HGNC:26504 MONDO:0014228 NCBIGene:2146 biolink:gene_associated_with_condition MONDO:0010193 infores:ubergraph knowledge_assertion manual_agent HGNC:3527 MONDO:0010193 NCBIGene:5297 biolink:gene_associated_with_condition MONDO:1040012 infores:ubergraph knowledge_assertion manual_agent HGNC:8983 MONDO:1040012 NCBIGene:22931 biolink:gene_associated_with_condition MONDO:0013638 infores:ubergraph knowledge_assertion manual_agent HGNC:14244 MONDO:0013638 NCBIGene:4210 biolink:gene_associated_with_condition MONDO:0009572 infores:ubergraph knowledge_assertion manual_agent HGNC:6998 MONDO:0009572 NCBIGene:202018 biolink:gene_associated_with_condition MONDO:0014821 infores:ubergraph knowledge_assertion manual_agent HGNC:26887 MONDO:0014821 NCBIGene:10479 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10479 MONDO:0700096 No evidence available 0 true NCBIGene:140679 biolink:gene_associated_with_condition MONDO:0958331 infores:ubergraph knowledge_assertion manual_agent HGNC:11018 MONDO:0958331 NCBIGene:8915 biolink:gene_associated_with_condition MONDO:0014491 infores:ubergraph knowledge_assertion manual_agent HGNC:989 MONDO:0014491 NCBIGene:11078 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11078 MONDO:0700096 No evidence available 0 true NCBIGene:5296 biolink:gene_associated_with_condition MONDO:0100283 infores:clingen HGNC:8980 MONDO:0100283 Definitive 2021-07-29T21:36:16.452Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc9a451e-0e75-47d2-a090-a2409732c465-2021-07-29T213616.452Z AD Autosomal Dominant 0000006 NCBIGene:339855 biolink:gene_associated_with_condition MONDO:0014922 infores:ubergraph knowledge_assertion manual_agent HGNC:26576 MONDO:0014922 NCBIGene:2303 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2303 MONDO:0700096 No evidence available 0 true NCBIGene:23236 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:23236 MONDO:0700096 No evidence available 0 true NCBIGene:9255 biolink:gene_associated_with_condition MONDO:0009843 infores:clingen NCBIGene:9255 MONDO:0009843 Definitive 2024-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52296001-edce-4ae5-be19-d30319179f7d-2024-12-18T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51305 biolink:gene_associated_with_condition MONDO:0012856 infores:clingen NCBIGene:51305 MONDO:0012856 true No evidence available 0 NCBIGene:4595 biolink:gene_associated_with_condition MONDO:0012041 infores:clingen NCBIGene:4595 MONDO:0012041 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4330fde4-0116-4781-a5ac-40c387a0b41f-2022-06-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4594 biolink:gene_associated_with_condition MONDO:0009612 infores:ubergraph knowledge_assertion manual_agent HGNC:7526 MONDO:0009612 NCBIGene:372 biolink:gene_associated_with_condition MONDO:0014948 infores:ubergraph knowledge_assertion manual_agent HGNC:649 MONDO:0014948 NCBIGene:865 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:865 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5727 biolink:gene_associated_with_condition MONDO:0007187 infores:clingen NCBIGene:5727 MONDO:0007187 Definitive 2018-06-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a3f55f5-e39b-4571-a41f-e46ddb8e298d-2018-06-04T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9531 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9531 MONDO:0700096 No evidence available 0 true NCBIGene:2542 biolink:gene_associated_with_condition MONDO:0002413 infores:clingen NCBIGene:2542 MONDO:0002413 Gene associated with autosomal recessive phenotype 30 NCBIGene:6495 biolink:gene_associated_with_condition MONDO:0007029 infores:clingen HGNC:10887 MONDO:0007029 Definitive 2017-06-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2587f3b-52e1-4765-a9ac-82d8cc5ae45b-2017-06-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6640 biolink:gene_associated_with_condition MONDO:0002442 infores:clingen HGNC:11167 MONDO:0002442 Disputed 2020-04-24T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03c758a6-9290-4e14-9501-0ffb0fbfe8ce-2020-04-24T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:80000 biolink:gene_associated_with_condition MONDO:0030998 infores:ubergraph knowledge_assertion manual_agent HGNC:31042 MONDO:0030998 NCBIGene:5729 biolink:gene_associated_with_condition MONDO:0011805 infores:ubergraph knowledge_assertion manual_agent HGNC:9591 MONDO:0011805 NCBIGene:64902 biolink:gene_associated_with_condition MONDO:0008860 infores:ubergraph knowledge_assertion manual_agent HGNC:14412 MONDO:0008860 NCBIGene:6445 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6445 MONDO:0700096 No evidence available 0 true NCBIGene:644096 biolink:gene_associated_with_condition MONDO:0100294 infores:clingen NCBIGene:644096 MONDO:0100294 Gene associated with autosomal recessive phenotype 30 NCBIGene:6768 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6768 MONDO:0700096 No evidence available 0 true NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0060592 infores:ubergraph knowledge_assertion manual_agent HGNC:12428 MONDO:0060592 NCBIGene:116150 biolink:gene_associated_with_condition MONDO:0020074 infores:clingen HGNC:21042 MONDO:0020074 Definitive 2025-05-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e50efc63-0235-4c75-a4ab-6c129485a117-2025-05-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2261 biolink:gene_associated_with_condition MONDO:0011274 infores:ubergraph knowledge_assertion manual_agent HGNC:3690 MONDO:0011274 NCBIGene:8915 biolink:gene_associated_with_condition MONDO:0007650 infores:ubergraph knowledge_assertion manual_agent HGNC:989 MONDO:0007650 NCBIGene:51314 biolink:gene_associated_with_condition MONDO:0012571 infores:clingen HGNC:16473 MONDO:0012571 Limited 2023-06-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ca8383-55b6-4edd-9be2-67b1c5142ed1-2023-06-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0020380 infores:clingen NCBIGene:3708 MONDO:0020380 true Little evidence for dosage pathogenicity 1 NCBIGene:2074 biolink:gene_associated_with_condition MONDO:0008955 infores:ubergraph knowledge_assertion manual_agent HGNC:3438 MONDO:0008955 NCBIGene:6023 biolink:gene_associated_with_condition MONDO:0009595 infores:clingen NCBIGene:6023 MONDO:0009595 Definitive 2021-07-27T15:52:13.681Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7328b31-364b-4a7c-aaed-731b582cb716-2021-07-27T155213.681Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:7453 biolink:gene_associated_with_condition MONDO:0018894 infores:clingen HGNC:12729 MONDO:0018894 Limited 2022-02-10T02:04:58.490Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93643521-0988-4c4b-b458-988044cfad6f-2022-02-10T020458.490Z AD Autosomal Dominant 0000006 NCBIGene:388939 biolink:gene_associated_with_condition MONDO:0013263 infores:ubergraph knowledge_assertion manual_agent HGNC:34383 MONDO:0013263 NCBIGene:7450 biolink:gene_associated_with_condition MONDO:0019565 infores:clingen HGNC:12726 MONDO:0019565 Definitive 2020-09-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4899c76e-7d5e-4b00-a47f-7e1f1b0ba664-2020-09-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:847 biolink:gene_associated_with_condition MONDO:0013571 infores:ubergraph knowledge_assertion manual_agent HGNC:1516 MONDO:0013571 NCBIGene:4705 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7684 MONDO:0044970 Moderate 2023-11-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1abd1440-686c-4bc9-91fb-59f7191891dd-2023-11-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:644096 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:33867 MONDO:0009723 Limited 2020-02-12T20:11:33.569Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0baf56d2-40f8-465a-9b50-22f57481a5cb-2020-02-12T201133.569Z AR Autosomal Recessive 0000007 NCBIGene:55181 biolink:gene_associated_with_condition MONDO:0859136 infores:ubergraph knowledge_assertion manual_agent HGNC:25551 MONDO:0859136 NCBIGene:3570 biolink:gene_associated_with_condition MONDO:0030069 infores:ubergraph knowledge_assertion manual_agent HGNC:6019 MONDO:0030069 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0012691 infores:ubergraph knowledge_assertion manual_agent HGNC:9829 MONDO:0012691 NCBIGene:1589 biolink:gene_associated_with_condition MONDO:0008728 infores:ubergraph knowledge_assertion manual_agent HGNC:2600 MONDO:0008728 NCBIGene:23090 biolink:gene_associated_with_condition MONDO:0013916 infores:ubergraph knowledge_assertion manual_agent HGNC:16762 MONDO:0013916 NCBIGene:4634 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7584 MONDO:0005021 Disputed 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6fdf5074-f853-473c-bd04-2c95c172b98a-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4953 biolink:gene_associated_with_condition MONDO:0033642 infores:ubergraph knowledge_assertion manual_agent HGNC:8109 MONDO:0033642 NCBIGene:7276 biolink:gene_associated_with_condition MONDO:0007100 infores:clingen NCBIGene:7276 MONDO:0007100 true No evidence available 0 NCBIGene:3773 biolink:gene_associated_with_condition MONDO:0859167 infores:ubergraph knowledge_assertion manual_agent HGNC:6262 MONDO:0859167 NCBIGene:5192 biolink:gene_associated_with_condition MONDO:0016614 infores:ubergraph knowledge_assertion manual_agent HGNC:8851 MONDO:0016614 NCBIGene:54880 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54880 MONDO:0700096 No evidence available 0 true NCBIGene:10273 biolink:gene_associated_with_condition MONDO:0014339 infores:ubergraph knowledge_assertion manual_agent HGNC:11427 MONDO:0014339 NCBIGene:164 biolink:gene_associated_with_condition MONDO:0859196 infores:ubergraph knowledge_assertion manual_agent HGNC:555 MONDO:0859196 NCBIGene:10743 biolink:gene_associated_with_condition MONDO:0008434 infores:ubergraph knowledge_assertion manual_agent HGNC:9834 MONDO:0008434 NCBIGene:4511 biolink:gene_associated_with_condition MONDO:0800036 infores:ubergraph knowledge_assertion manual_agent HGNC:7477 MONDO:0800036 NCBIGene:23043 biolink:gene_associated_with_condition MONDO:0014876 infores:ubergraph knowledge_assertion manual_agent HGNC:30765 MONDO:0014876 NCBIGene:6576 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10979 MONDO:0044970 Definitive 2023-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efd22051-13dc-49ed-b8cd-ded1d67f2bf1-2023-12-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6664 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6664 MONDO:0700096 No evidence available 0 true NCBIGene:23036 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23036 MONDO:0100038 Definitive 2020-05-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dba438b7-23f9-4c15-a8aa-f70431a193e2-2020-05-06T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:4292 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:7127 MONDO:0016419 Refuted 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c27a22e4-fc45-4888-8b1d-625bc649697c-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0011500 infores:ubergraph knowledge_assertion manual_agent HGNC:132 MONDO:0011500 NCBIGene:126695 biolink:gene_associated_with_condition MONDO:0015024 infores:clingen HGNC:26624 MONDO:0015024 Definitive 2025-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01768f27-57ea-401c-9e99-0b31109e371d-2025-07-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:545 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:545 MONDO:0700096 No evidence available 0 true NCBIGene:2707 biolink:gene_associated_with_condition MONDO:0012976 infores:ubergraph knowledge_assertion manual_agent HGNC:4285 MONDO:0012976 NCBIGene:51128 biolink:gene_associated_with_condition MONDO:0009528 infores:ubergraph knowledge_assertion manual_agent HGNC:10535 MONDO:0009528 NCBIGene:7407 biolink:gene_associated_with_condition MONDO:0060621 infores:clingen HGNC:12651 MONDO:0060621 Definitive 2023-12-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8f282f2-3313-44b8-a0f8-b3f52374a11a-2023-12-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:51204 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:24316 MONDO:0009723 Moderate 2019-10-16T15:04:33.004Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae2fd0e4-db4e-4e17-bfc8-c43719066f97-2019-10-16T150433.004Z AR Autosomal Recessive 0000007 NCBIGene:7266 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:12392 MONDO:0004976 Limited 2022-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2a12a19-b37a-4654-87fa-3a921c202c87-2022-10-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2512 biolink:gene_associated_with_condition MONDO:0014274 infores:ubergraph knowledge_assertion manual_agent HGNC:3999 MONDO:0014274 NCBIGene:6499 biolink:gene_associated_with_condition MONDO:0013818 infores:clingen HGNC:10898 MONDO:0013818 Definitive 2024-04-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53d69181-61b3-4393-ae46-bd68307a98f1-2024-04-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:186 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:186 MONDO:0700096 No evidence available 0 true NCBIGene:56171 biolink:gene_associated_with_condition MONDO:0957252 infores:clingen HGNC:18661 MONDO:0957252 Limited 2025-02-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90a097d6-5127-4466-8c81-00e99dab2696-2025-02-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3242 biolink:gene_associated_with_condition MONDO:0010162 infores:clingen HGNC:5147 MONDO:0010162 Definitive 2020-06-29T17:36:06.841Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89eb4236-9243-490b-bc73-fb3b99675eb9-2020-06-29T173606.841Z AR Autosomal Recessive 0000007 NCBIGene:93426 biolink:gene_associated_with_condition MONDO:0014844 infores:ubergraph knowledge_assertion manual_agent HGNC:28852 MONDO:0014844 NCBIGene:55812 biolink:gene_associated_with_condition MONDO:1040070 infores:ubergraph knowledge_assertion manual_agent HGNC:20423 MONDO:1040070 NCBIGene:5346 biolink:gene_associated_with_condition MONDO:0013478 infores:ubergraph knowledge_assertion manual_agent HGNC:9076 MONDO:0013478 NCBIGene:1674 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:2770 MONDO:0016587 Moderate 2018-09-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef9a60b-a94f-4318-824e-e748c5c20ecb-2018-09-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:54802 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:20286 MONDO:0044970 Definitive 2022-09-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0473ea4b-40cb-4f4c-b986-e96b1ae18a9f-2022-09-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:777 biolink:gene_associated_with_condition MONDO:0032657 infores:clingen NCBIGene:777 MONDO:0032657 true Little evidence for dosage pathogenicity 1 NCBIGene:4803 biolink:gene_associated_with_condition MONDO:0015364 infores:clingen HGNC:7808 MONDO:0015364 Strong 2023-05-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0b3691d-a3d3-42f6-9703-18af08f40688-2023-05-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0020735 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0020735 NCBIGene:10528 biolink:gene_associated_with_condition MONDO:0013594 infores:ubergraph knowledge_assertion manual_agent HGNC:15911 MONDO:0013594 NCBIGene:5119 biolink:gene_associated_with_condition MONDO:0013990 infores:clingen NCBIGene:5119 MONDO:0013990 Gene associated with autosomal recessive phenotype 30 NCBIGene:2934 biolink:gene_associated_with_condition MONDO:0007097 infores:ubergraph knowledge_assertion manual_agent HGNC:4620 MONDO:0007097 NCBIGene:6690 biolink:gene_associated_with_condition MONDO:0011986 infores:ubergraph knowledge_assertion manual_agent HGNC:11244 MONDO:0011986 NCBIGene:23095 biolink:gene_associated_with_condition MONDO:0009741 infores:ubergraph knowledge_assertion manual_agent HGNC:16636 MONDO:0009741 NCBIGene:1352 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2260 MONDO:0044970 Definitive 2023-12-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cb195fd-1191-45ba-83ef-cc2b18a081a7-2023-12-04T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:3815 biolink:gene_associated_with_condition MONDO:0011719 infores:clingen HGNC:6342 MONDO:0011719 Definitive 2020-01-14T18:46:19.396Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa076c63-8ffe-46ff-ba44-255a6fca07e5-2020-01-14T184619.396Z AD Autosomal Dominant 0000006 NCBIGene:10157 biolink:gene_associated_with_condition MONDO:0009388 infores:ubergraph knowledge_assertion manual_agent HGNC:17366 MONDO:0009388 NCBIGene:55187 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:23595 MONDO:0009723 Limited 2021-06-14T14:32:34.435Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f179add-fcdb-4ea0-bc3c-506f825d2dac-2021-06-14T143234.435Z AR Autosomal Recessive 0000007 NCBIGene:3858 biolink:gene_associated_with_condition MONDO:0012208 infores:ubergraph knowledge_assertion manual_agent HGNC:6413 MONDO:0012208 NCBIGene:144577 biolink:gene_associated_with_condition MONDO:0976231 infores:ubergraph knowledge_assertion manual_agent HGNC:26517 MONDO:0976231 NCBIGene:8985 biolink:gene_associated_with_condition MONDO:0012892 infores:clingen NCBIGene:8985 MONDO:0012892 Gene associated with autosomal recessive phenotype 30 NCBIGene:324 biolink:gene_associated_with_condition MONDO:0021057 infores:clingen NCBIGene:324 MONDO:0021057 Definitive 2022-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdf062b6-6abf-49f6-a2dc-43b0e535f1b6-2022-06-20T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4683 biolink:gene_associated_with_condition MONDO:0009623 infores:clingen NCBIGene:4683 MONDO:0009623 Definitive 2022-06-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de6fa1fe-a86e-4f0d-8da8-7690debe9aec-2022-06-21T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6506 biolink:gene_associated_with_condition MONDO:0014916 infores:clingen HGNC:10940 MONDO:0014916 Definitive 2020-10-29T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebb83674-206f-461b-b98e-e12420208deb-2020-10-29T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3321 biolink:gene_associated_with_condition MONDO:0007871 infores:ubergraph knowledge_assertion manual_agent HGNC:5950 MONDO:0007871 NCBIGene:79783 biolink:gene_associated_with_condition MONDO:0009283 infores:ubergraph knowledge_assertion manual_agent HGNC:16001 MONDO:0009283 NCBIGene:118813 biolink:gene_associated_with_condition MONDO:0012448 infores:clingen HGNC:26559 MONDO:0012448 Disputed 2023-02-02T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1339e37-ae1f-4ffe-8f05-fb00729de5ed-2023-02-02T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:23020 biolink:gene_associated_with_condition MONDO:0800098 infores:ubergraph knowledge_assertion manual_agent HGNC:30859 MONDO:0800098 NCBIGene:5230 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5230 MONDO:0700096 No evidence available 0 true NCBIGene:64423 biolink:gene_associated_with_condition MONDO:0013758 infores:clingen HGNC:23791 MONDO:0013758 Definitive 2021-03-22T20:20:12.410Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5215f2cf-99c9-405a-b221-18f412abd1f0-2021-03-22T202012.410Z AD Autosomal Dominant 0000006 NCBIGene:2182 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2182 MONDO:0700096 No evidence available 0 true NCBIGene:10125 biolink:gene_associated_with_condition MONDO:0032803 infores:clingen HGNC:9878 MONDO:0032803 Definitive 2025-05-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_584ab4e0-6b83-4d91-8a7a-7d04646cd8be-2025-05-05T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2737 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2737 MONDO:0700096 No evidence available 0 true NCBIGene:2070 biolink:gene_associated_with_condition MONDO:0011031 infores:ubergraph knowledge_assertion manual_agent HGNC:3522 MONDO:0011031 NCBIGene:5158 biolink:gene_associated_with_condition MONDO:0019118 infores:clingen HGNC:8786 MONDO:0019118 Definitive 2025-01-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37b033e5-4fb5-4338-b64e-81855262d75b-2025-01-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:55084 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen HGNC:29256 MONDO:0000508 Limited 2022-10-18T06:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3edc996d-92e2-4556-947e-5a298cf1341d-2022-10-18T063000.000Z AR Autosomal Recessive 0000007 NCBIGene:7177 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7177 MONDO:0700096 true No evidence available 0 NCBIGene:9496 biolink:gene_associated_with_condition MONDO:0007841 infores:ubergraph knowledge_assertion manual_agent HGNC:11603 MONDO:0007841 NCBIGene:6299 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6299 MONDO:0700096 No evidence available 0 true NCBIGene:7809 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7809 MONDO:0700096 No evidence available 0 true NCBIGene:91452 biolink:gene_associated_with_condition MONDO:0100112 infores:ubergraph knowledge_assertion manual_agent HGNC:23338 MONDO:0100112 NCBIGene:6584 biolink:gene_associated_with_condition MONDO:0000453 infores:clingen HGNC:10969 MONDO:0000453 Disputed 2020-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23b9707-bb3c-423d-b68e-54c57b991db6-2020-08-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:50964 biolink:gene_associated_with_condition MONDO:0010016 infores:ubergraph knowledge_assertion manual_agent HGNC:13771 MONDO:0010016 NCBIGene:745 biolink:gene_associated_with_condition MONDO:0020853 infores:ubergraph knowledge_assertion manual_agent HGNC:1181 MONDO:0020853 NCBIGene:6261 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6261 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:6786 biolink:gene_associated_with_condition MONDO:0024531 infores:ubergraph knowledge_assertion manual_agent HGNC:11386 MONDO:0024531 NCBIGene:6795 biolink:gene_associated_with_condition MONDO:0009461 infores:ubergraph knowledge_assertion manual_agent HGNC:11391 MONDO:0009461 NCBIGene:64240 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64240 MONDO:0700096 No evidence available 0 true NCBIGene:26160 biolink:gene_associated_with_condition MONDO:0014618 infores:ubergraph knowledge_assertion manual_agent HGNC:30391 MONDO:0014618 NCBIGene:204 biolink:gene_associated_with_condition MONDO:0009973 infores:ubergraph knowledge_assertion manual_agent HGNC:362 MONDO:0009973 NCBIGene:1462 biolink:gene_associated_with_condition MONDO:0007740 infores:ubergraph knowledge_assertion manual_agent HGNC:2464 MONDO:0007740 NCBIGene:2617 biolink:gene_associated_with_condition MONDO:0015353 infores:ubergraph knowledge_assertion manual_agent HGNC:4162 MONDO:0015353 NCBIGene:6017 biolink:gene_associated_with_condition MONDO:0100444 infores:clingen HGNC:10024 MONDO:0100444 Definitive 2021-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8c69db5-8d29-40af-85f0-59471ce0c62c-2021-06-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:31 biolink:gene_associated_with_condition MONDO:0013493 infores:ubergraph knowledge_assertion manual_agent HGNC:84 MONDO:0013493 NCBIGene:90522 biolink:gene_associated_with_condition MONDO:0030878 infores:clingen HGNC:30511 MONDO:0030878 Definitive 2024-08-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0891180-c48d-4c14-bbed-920418bb45cf-2024-08-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26173 biolink:gene_associated_with_condition MONDO:0032817 infores:ubergraph knowledge_assertion manual_agent HGNC:24555 MONDO:0032817 NCBIGene:4040 biolink:gene_associated_with_condition MONDO:0012586 infores:ubergraph knowledge_assertion manual_agent HGNC:6698 MONDO:0012586 NCBIGene:1356 biolink:gene_associated_with_condition MONDO:0011426 infores:ubergraph knowledge_assertion manual_agent HGNC:2295 MONDO:0011426 NCBIGene:1738 biolink:gene_associated_with_condition MONDO:0009529 infores:ubergraph knowledge_assertion manual_agent HGNC:2898 MONDO:0009529 NCBIGene:1508 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1508 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:7169 biolink:gene_associated_with_condition MONDO:0100196 infores:ubergraph knowledge_assertion manual_agent HGNC:12011 MONDO:0100196 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0007298 infores:clingen HGNC:6180 MONDO:0007298 Definitive 2025-01-22T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2025-01-22T230000.000Z AD Autosomal Dominant 0000006 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007041 infores:clingen HGNC:3689 MONDO:0007041 Definitive 2021-12-14T22:11:37.192Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2aa63602-d820-4fee-893b-b807e7b62f28-2021-12-14T221137.192Z AD Autosomal Dominant 0000006 NCBIGene:2752 biolink:gene_associated_with_condition MONDO:0012393 infores:ubergraph knowledge_assertion manual_agent HGNC:4341 MONDO:0012393 NCBIGene:8233 biolink:gene_associated_with_condition MONDO:0975827 infores:ubergraph knowledge_assertion manual_agent HGNC:23019 MONDO:0975827 NCBIGene:23558 biolink:gene_associated_with_condition MONDO:0019588 infores:clingen HGNC:12738 MONDO:0019588 Limited 2018-12-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baa7931c-1d6a-4260-9816-fbca764c5a0e-2018-12-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:57190 biolink:gene_associated_with_condition MONDO:0100100 infores:clingen HGNC:15999 MONDO:0100100 Definitive 2020-04-27T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7485529e-a573-4a47-aa0f-7c0d7067ae49-2020-04-27T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:5932 biolink:gene_associated_with_condition MONDO:0009622 infores:ubergraph knowledge_assertion manual_agent HGNC:9891 MONDO:0009622 NCBIGene:54346 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54346 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:7284 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7284 MONDO:0700096 No evidence available 0 true NCBIGene:23556 biolink:gene_associated_with_condition MONDO:0013563 infores:ubergraph knowledge_assertion manual_agent HGNC:8967 MONDO:0013563 NCBIGene:2588 biolink:gene_associated_with_condition MONDO:0009659 infores:ubergraph knowledge_assertion manual_agent HGNC:4122 MONDO:0009659 NCBIGene:2218 biolink:gene_associated_with_condition MONDO:0700067 infores:ubergraph knowledge_assertion manual_agent HGNC:3622 MONDO:0700067 NCBIGene:57057 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:11598 MONDO:0005021 Strong 2025-05-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58a014d9-2d97-4041-961d-cfd09fa11adf-2025-05-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:81794 biolink:gene_associated_with_condition MONDO:0010194 infores:ubergraph knowledge_assertion manual_agent HGNC:13201 MONDO:0010194 NCBIGene:91869 biolink:gene_associated_with_condition MONDO:0012783 infores:ubergraph knowledge_assertion manual_agent HGNC:30220 MONDO:0012783 NCBIGene:93650 biolink:gene_associated_with_condition MONDO:0015008 infores:ubergraph knowledge_assertion manual_agent HGNC:14376 MONDO:0015008 NCBIGene:4488 biolink:gene_associated_with_condition MONDO:0011481 infores:clingen HGNC:7392 MONDO:0011481 Definitive 2020-09-28T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac8a9313-9ef2-4556-9a25-db7fa2ed99ed-2020-09-28T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:170691 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:170691 MONDO:0700096 No evidence available 0 true NCBIGene:91039 biolink:gene_associated_with_condition MONDO:0957229 infores:ubergraph knowledge_assertion manual_agent HGNC:18648 MONDO:0957229 NCBIGene:1604 biolink:gene_associated_with_condition MONDO:0009174 infores:ubergraph knowledge_assertion manual_agent HGNC:2665 MONDO:0009174 NCBIGene:9095 biolink:gene_associated_with_condition MONDO:0008720 infores:ubergraph knowledge_assertion manual_agent HGNC:11596 MONDO:0008720 NCBIGene:1130 biolink:gene_associated_with_condition MONDO:0008963 infores:clingen NCBIGene:1130 MONDO:0008963 Definitive 2020-05-27T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d752f7c-43d2-4ba9-910f-f286f5443012-2020-05-27T040000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10161 biolink:gene_associated_with_condition MONDO:0010206 infores:clingen NCBIGene:10161 MONDO:0010206 Gene associated with autosomal recessive phenotype 30 NCBIGene:123041 biolink:gene_associated_with_condition MONDO:0014385 infores:ubergraph knowledge_assertion manual_agent HGNC:10978 MONDO:0014385 NCBIGene:668 biolink:gene_associated_with_condition MONDO:0007201 infores:clingen NCBIGene:668 MONDO:0007201 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6910 biolink:gene_associated_with_condition MONDO:0007732 infores:ubergraph knowledge_assertion manual_agent HGNC:11604 MONDO:0007732 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0018997 infores:clingen HGNC:9829 MONDO:0018997 Definitive 2024-10-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85645d27-2056-4ad3-9593-8d7739aa4121-2024-10-23T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:6934 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6934 MONDO:0700096 No evidence available 0 true NCBIGene:5277 biolink:gene_associated_with_condition MONDO:0010466 infores:ubergraph knowledge_assertion manual_agent HGNC:8957 MONDO:0010466 NCBIGene:7873 biolink:gene_associated_with_condition MONDO:0957997 infores:ubergraph knowledge_assertion manual_agent HGNC:15461 MONDO:0957997 NCBIGene:2653 biolink:gene_associated_with_condition MONDO:0011612 infores:clingen NCBIGene:2653 MONDO:0011612 Strong 2023-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d360db9d-24e7-415e-b4bc-59a2c6231189-2023-02-10T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4540 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7461 MONDO:0044970 Definitive 2023-05-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af2efc84-7d75-49a9-ae61-2ea59bf3ce5f-2023-05-03T160000.000Z MT Mitochondrial 0001427 NCBIGene:55670 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen NCBIGene:55670 MONDO:0019234 Definitive 2020-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf6af95e-6696-420c-8731-d2e37ca6e692-2020-02-07T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57649 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57649 MONDO:0700096 No evidence available 0 true NCBIGene:2531 biolink:gene_associated_with_condition MONDO:0033014 infores:ubergraph knowledge_assertion manual_agent HGNC:4021 MONDO:0033014 NCBIGene:4091 biolink:gene_associated_with_condition MONDO:0015338 infores:clingen HGNC:6772 MONDO:0015338 Definitive 2023-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4f789cd-1561-48d1-9dae-98854f4b9121-2023-06-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:340024 biolink:gene_associated_with_condition MONDO:0009324 infores:ubergraph knowledge_assertion manual_agent HGNC:27960 MONDO:0009324 NCBIGene:8467 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:11101 MONDO:0100038 Moderate 2025-06-18T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1941d78-2658-4c23-b512-985234d7b4dc-2025-06-18T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:9295 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9295 MONDO:0700096 No evidence available 0 true NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0100283 infores:clingen HGNC:8975 MONDO:0100283 Definitive 2021-07-29T21:31:57.366Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c670e6ce-97b6-4383-bea6-5c216ab2a4a0-2021-07-29T213157.366Z AD Autosomal Dominant 0000006 NCBIGene:54845 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:25966 MONDO:0019497 Limited 2025-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59032887-828f-44ad-9cbd-192f1604a8f5-2025-07-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2071 biolink:gene_associated_with_condition MONDO:0012531 infores:clingen NCBIGene:2071 MONDO:0012531 Definitive 2019-04-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf09deab-9612-4b13-8bb7-4c2a25dde868-2019-04-19T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3661 biolink:gene_associated_with_condition MONDO:0014680 infores:ubergraph knowledge_assertion manual_agent HGNC:6118 MONDO:0014680 NCBIGene:137492 biolink:gene_associated_with_condition MONDO:0015150 infores:clingen HGNC:24928 MONDO:0015150 Limited 2025-03-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14dcdd9d-bd32-49ff-ab29-fa7b79baf463-2025-03-06T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:83943 biolink:gene_associated_with_condition MONDO:0007661 infores:clingen NCBIGene:83943 MONDO:0007661 true Dosage sensitivity unlikely 40 NCBIGene:4615 biolink:gene_associated_with_condition MONDO:0012839 infores:ubergraph knowledge_assertion manual_agent HGNC:7562 MONDO:0012839 NCBIGene:1121 biolink:gene_associated_with_condition MONDO:0010557 infores:clingen NCBIGene:1121 MONDO:0010557 Definitive 2020-10-26T12:47:04.094Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d84b01d6-8b3c-4a1e-bd25-68ee6962f374-2020-10-26T124704.094Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:27343 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27343 MONDO:0700096 true No evidence available 0 NCBIGene:3778 biolink:gene_associated_with_condition MONDO:0012276 infores:clingen HGNC:6284 MONDO:0012276 Definitive 2022-03-08T10:44:05.484Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4bd10bb7-67d0-4c30-a944-9a46fd2f361a-2022-03-08T104405.484Z AD Autosomal Dominant 0000006 NCBIGene:10235 biolink:gene_associated_with_condition MONDO:0014386 infores:clingen HGNC:9879 MONDO:0014386 Definitive 2019-09-27T13:53:00.165Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4401e99-145a-4b93-aa73-6854b8037895-2019-09-27T135300.165Z AR Autosomal Recessive 0000007 NCBIGene:90268 biolink:gene_associated_with_condition MONDO:0014912 infores:ubergraph knowledge_assertion manual_agent HGNC:25118 MONDO:0014912 NCBIGene:25794 biolink:gene_associated_with_condition MONDO:0011935 infores:ubergraph knowledge_assertion manual_agent HGNC:3960 MONDO:0011935 NCBIGene:2077 biolink:gene_associated_with_condition MONDO:0010929 infores:ubergraph knowledge_assertion manual_agent HGNC:3444 MONDO:0010929 NCBIGene:5961 biolink:gene_associated_with_condition MONDO:1040055 infores:clingen HGNC:9942 MONDO:1040055 Definitive 2024-02-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f069086-b0fb-4aaa-9921-aec158b938b5-2024-02-01T170000.000Z SD Semidominant 0032113 NCBIGene:2767 biolink:gene_associated_with_condition MONDO:0007792 infores:ubergraph knowledge_assertion manual_agent HGNC:4379 MONDO:0007792 NCBIGene:83636 biolink:gene_associated_with_condition MONDO:0014024 infores:ubergraph knowledge_assertion manual_agent HGNC:25443 MONDO:0014024 NCBIGene:63915 biolink:gene_associated_with_condition MONDO:0030903 infores:ubergraph knowledge_assertion manual_agent HGNC:18561 MONDO:0030903 NCBIGene:6023 biolink:gene_associated_with_condition MONDO:0009595 infores:ubergraph knowledge_assertion manual_agent HGNC:10031 MONDO:0009595 NCBIGene:26960 biolink:gene_associated_with_condition MONDO:0030930 infores:ubergraph knowledge_assertion manual_agent HGNC:7648 MONDO:0030930 NCBIGene:91057 biolink:gene_associated_with_condition MONDO:0031077 infores:ubergraph knowledge_assertion manual_agent HGNC:25079 MONDO:0031077 NCBIGene:4921 biolink:gene_associated_with_condition MONDO:0010077 infores:ubergraph knowledge_assertion manual_agent HGNC:2731 MONDO:0010077 NCBIGene:2070 biolink:gene_associated_with_condition MONDO:0011541 infores:ubergraph knowledge_assertion manual_agent HGNC:3522 MONDO:0011541 NCBIGene:9289 biolink:gene_associated_with_condition MONDO:0014333 infores:ubergraph knowledge_assertion manual_agent HGNC:4512 MONDO:0014333 NCBIGene:4306 biolink:gene_associated_with_condition MONDO:0008329 infores:ubergraph knowledge_assertion manual_agent HGNC:7979 MONDO:0008329 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:3603 MONDO:0019625 Definitive 2017-01-23T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8251 AD Autosomal Dominant 0000006 NCBIGene:27245 biolink:gene_associated_with_condition MONDO:0014358 infores:ubergraph knowledge_assertion manual_agent HGNC:25230 MONDO:0014358 NCBIGene:229 biolink:gene_associated_with_condition MONDO:0009249 infores:ubergraph knowledge_assertion manual_agent HGNC:417 MONDO:0009249 NCBIGene:29998 biolink:gene_associated_with_condition MONDO:0015452 infores:clingen HGNC:4332 MONDO:0015452 Definitive 2024-11-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2dcc8864-4487-4c5c-b541-cfd972767269-2024-11-20T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:60468 biolink:gene_associated_with_condition MONDO:0032723 infores:ubergraph knowledge_assertion manual_agent HGNC:14078 MONDO:0032723 NCBIGene:3730 biolink:gene_associated_with_condition MONDO:0010635 infores:clingen NCBIGene:3730 MONDO:0010635 Definitive 2022-05-17T22:31:52.758Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b7650b6-f2b6-4ac3-a967-3e631c98d7b1-2022-05-17T223152.758Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1327 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:2265 MONDO:0044970 Limited 2024-03-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18fa1fc5-ce1b-4fec-9cc0-c94dd5c040c7-2024-03-18T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:63036 biolink:gene_associated_with_condition MONDO:0032837 infores:ubergraph knowledge_assertion manual_agent HGNC:24609 MONDO:0032837 NCBIGene:7592 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7592 MONDO:0700096 No evidence available 0 true NCBIGene:122553 biolink:gene_associated_with_condition MONDO:0060640 infores:ubergraph knowledge_assertion manual_agent HGNC:23066 MONDO:0060640 NCBIGene:79717 biolink:gene_associated_with_condition MONDO:0032592 infores:ubergraph knowledge_assertion manual_agent HGNC:25686 MONDO:0032592 NCBIGene:7476 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:7476 MONDO:0700096 No evidence available 0 true NCBIGene:7062 biolink:gene_associated_with_condition MONDO:0014990 infores:ubergraph knowledge_assertion manual_agent HGNC:11791 MONDO:0014990 NCBIGene:567 biolink:gene_associated_with_condition MONDO:0009434 infores:clingen HGNC:914 MONDO:0009434 Limited 2024-04-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56366640-5981-436e-bfa1-8d1edf14ac3f-2024-04-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2059 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2059 MONDO:0700096 No evidence available 0 true NCBIGene:112802 biolink:gene_associated_with_condition MONDO:0014390 infores:ubergraph knowledge_assertion manual_agent HGNC:28927 MONDO:0014390 NCBIGene:4477 biolink:gene_associated_with_condition MONDO:0012758 infores:ubergraph knowledge_assertion manual_agent HGNC:7372 MONDO:0012758 NCBIGene:3574 biolink:gene_associated_with_condition MONDO:0032667 infores:ubergraph knowledge_assertion manual_agent HGNC:6023 MONDO:0032667 NCBIGene:3988 biolink:gene_associated_with_condition MONDO:0019148 infores:ubergraph knowledge_assertion manual_agent HGNC:6617 MONDO:0019148 NCBIGene:5723 biolink:gene_associated_with_condition MONDO:0013531 infores:clingen NCBIGene:5723 MONDO:0013531 Gene associated with autosomal recessive phenotype 30 NCBIGene:2316 biolink:gene_associated_with_condition MONDO:0010704 infores:ubergraph knowledge_assertion manual_agent HGNC:3754 MONDO:0010704 NCBIGene:55699 biolink:gene_associated_with_condition MONDO:0014455 infores:ubergraph knowledge_assertion manual_agent HGNC:29685 MONDO:0014455 NCBIGene:11005 biolink:gene_associated_with_condition MONDO:0009735 infores:clingen NCBIGene:11005 MONDO:0009735 Gene associated with autosomal recessive phenotype 30 NCBIGene:10735 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10735 MONDO:0700096 No evidence available 0 true NCBIGene:7283 biolink:gene_associated_with_condition MONDO:0018838 infores:clingen HGNC:12417 MONDO:0018838 Definitive 2022-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f773acb3-c59f-4c34-90f7-b5396b2dbfac-2022-04-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5457 biolink:gene_associated_with_condition MONDO:0859158 infores:ubergraph knowledge_assertion manual_agent HGNC:9218 MONDO:0859158 NCBIGene:26227 biolink:gene_associated_with_condition MONDO:0011152 infores:ubergraph knowledge_assertion manual_agent HGNC:8923 MONDO:0011152 NCBIGene:6521 biolink:gene_associated_with_condition MONDO:0008165 infores:ubergraph knowledge_assertion manual_agent HGNC:11027 MONDO:0008165 NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0013186 infores:ubergraph knowledge_assertion manual_agent HGNC:7989 MONDO:0013186 NCBIGene:55654 biolink:gene_associated_with_condition MONDO:0017366 infores:clingen NCBIGene:55654 MONDO:0017366 Definitive 2021-06-16T14:33:47.758Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b965b4e-c909-41da-995b-cdc2af9b3183-2021-06-16T143347.758Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0009557 infores:ubergraph knowledge_assertion manual_agent HGNC:6636 MONDO:0009557 NCBIGene:5076 biolink:gene_associated_with_condition MONDO:0014451 infores:clingen HGNC:8616 MONDO:0014451 Definitive 2021-09-13T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed6df631-4153-4f76-9bdd-073ed4cb68a2-2021-09-13T023000.000Z AD Autosomal Dominant 0000006 NCBIGene:79628 biolink:gene_associated_with_condition MONDO:0011113 infores:clingen NCBIGene:79628 MONDO:0011113 Gene associated with autosomal recessive phenotype 30 NCBIGene:4724 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7711 MONDO:0044970 Definitive 2023-12-04T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc39144a-f17d-45b9-b9a9-91cf52e01f08-2023-12-04T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:7291 biolink:gene_associated_with_condition MONDO:0007399 infores:ubergraph knowledge_assertion manual_agent HGNC:12428 MONDO:0007399 NCBIGene:5357 biolink:gene_associated_with_condition MONDO:0032917 infores:ubergraph knowledge_assertion manual_agent HGNC:9090 MONDO:0032917 NCBIGene:70 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:143 MONDO:0016587 No Known Disease Relationship 2019-03-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d4255-ef43-4b42-b9f1-1cdbc50de763-2019-03-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:338567 biolink:gene_associated_with_condition MONDO:0013344 infores:ubergraph knowledge_assertion manual_agent HGNC:19439 MONDO:0013344 NCBIGene:7253 biolink:gene_associated_with_condition MONDO:0010142 infores:ubergraph knowledge_assertion manual_agent HGNC:12373 MONDO:0010142 NCBIGene:825 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:825 MONDO:0700096 No evidence available 0 true NCBIGene:790 biolink:gene_associated_with_condition MONDO:0014647 infores:ubergraph knowledge_assertion manual_agent HGNC:1424 MONDO:0014647 NCBIGene:25885 biolink:gene_associated_with_condition MONDO:0014651 infores:ubergraph knowledge_assertion manual_agent HGNC:17264 MONDO:0014651 NCBIGene:8802 biolink:gene_associated_with_condition MONDO:0009504 infores:ubergraph knowledge_assertion manual_agent HGNC:11449 MONDO:0009504 NCBIGene:6531 biolink:gene_associated_with_condition MONDO:0700117 infores:ubergraph knowledge_assertion manual_agent HGNC:11049 MONDO:0700117 NCBIGene:5428 biolink:gene_associated_with_condition MONDO:0009783 infores:ubergraph knowledge_assertion manual_agent HGNC:9179 MONDO:0009783 NCBIGene:3662 biolink:gene_associated_with_condition MONDO:0015131 infores:clingen HGNC:6119 MONDO:0015131 Definitive 2024-12-10T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53e517dc-345a-4efe-bb9b-5d0824b02a2d-2024-12-10T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:5455 biolink:gene_associated_with_condition MONDO:0032830 infores:ubergraph knowledge_assertion manual_agent HGNC:9216 MONDO:0032830 NCBIGene:1859 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1859 MONDO:0700096 No evidence available 0 true NCBIGene:1750 biolink:gene_associated_with_condition MONDO:0009080 infores:clingen NCBIGene:1750 MONDO:0009080 true No evidence available 0 NCBIGene:80184 biolink:gene_associated_with_condition MONDO:0100451 infores:ubergraph knowledge_assertion manual_agent HGNC:29021 MONDO:0100451 NCBIGene:284086 biolink:gene_associated_with_condition MONDO:0971178 infores:ubergraph knowledge_assertion manual_agent HGNC:13387 MONDO:0971178 NCBIGene:9509 biolink:gene_associated_with_condition MONDO:0009161 infores:clingen NCBIGene:9509 MONDO:0009161 Gene associated with autosomal recessive phenotype 30 NCBIGene:4867 biolink:gene_associated_with_condition MONDO:0009728 infores:ubergraph knowledge_assertion manual_agent HGNC:7905 MONDO:0009728 NCBIGene:54658 biolink:gene_associated_with_condition MONDO:0021020 infores:ubergraph knowledge_assertion manual_agent HGNC:12530 MONDO:0021020 NCBIGene:987 biolink:gene_associated_with_condition MONDO:0013863 infores:clingen NCBIGene:987 MONDO:0013863 Definitive 2025-01-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b12eaaeb-cc9d-48b8-b9cd-c0b243f48287-2025-01-06T050000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57502 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57502 MONDO:0700096 No evidence available 0 true NCBIGene:2879 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2879 MONDO:0700096 No evidence available 0 true NCBIGene:2617 biolink:gene_associated_with_condition MONDO:0011091 infores:clingen HGNC:4162 MONDO:0011091 Definitive 2023-01-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_168242d1-ef2e-486a-a45a-ed96187bd4d2-2023-01-10T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10345 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen NCBIGene:10345 MONDO:0017990 Definitive 2021-01-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a86167e8-9010-488d-b5bb-1f29e805bd91-2021-01-20T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:779 biolink:gene_associated_with_condition MONDO:0859514 infores:ubergraph knowledge_assertion manual_agent HGNC:1397 MONDO:0859514 NCBIGene:4929 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:4929 MONDO:0100038 Definitive 2021-05-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8923fda-35f3-47e3-a987-8ca2b86e4b92-2021-05-05T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:84033 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:15719 MONDO:0005045 Limited 2022-04-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94265ca9-cf6a-468e-b12c-6ea173d09e51-2022-04-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:831 biolink:gene_associated_with_condition MONDO:0014574 infores:ubergraph knowledge_assertion manual_agent HGNC:1515 MONDO:0014574 NCBIGene:8925 biolink:gene_associated_with_condition MONDO:0014863 infores:ubergraph knowledge_assertion manual_agent HGNC:4867 MONDO:0014863 NCBIGene:7082 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:11827 MONDO:0016587 Limited 2019-02-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_435951df-5a0d-4596-b112-ccd6d6204409-2019-02-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:7546 biolink:gene_associated_with_condition MONDO:0012322 infores:ubergraph knowledge_assertion manual_agent HGNC:12873 MONDO:0012322 NCBIGene:286151 biolink:gene_associated_with_condition MONDO:0030522 infores:ubergraph knowledge_assertion manual_agent HGNC:28521 MONDO:0030522 NCBIGene:5528 biolink:gene_associated_with_condition MONDO:0014602 infores:ubergraph knowledge_assertion manual_agent HGNC:9312 MONDO:0014602 NCBIGene:54101 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:54101 MONDO:0700096 No evidence available 0 true NCBIGene:55157 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55157 MONDO:0700096 No evidence available 0 true NCBIGene:284403 biolink:gene_associated_with_condition MONDO:0011435 infores:ubergraph knowledge_assertion manual_agent HGNC:24502 MONDO:0011435 NCBIGene:3767 biolink:gene_associated_with_condition MONDO:0015967 infores:clingen HGNC:6257 MONDO:0015967 Definitive 2023-01-05T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9353379e-564a-43bc-a859-7d27ab640e9e-2023-01-05T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:10686 biolink:gene_associated_with_condition MONDO:0009550 infores:ubergraph knowledge_assertion manual_agent HGNC:2037 MONDO:0009550 NCBIGene:6390 biolink:gene_associated_with_condition MONDO:0007273 infores:ubergraph knowledge_assertion manual_agent HGNC:10681 MONDO:0007273 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0007635 infores:ubergraph knowledge_assertion manual_agent HGNC:12796 MONDO:0007635 NCBIGene:2677 biolink:gene_associated_with_condition MONDO:0010187 infores:ubergraph knowledge_assertion manual_agent HGNC:4247 MONDO:0010187 NCBIGene:6608 biolink:gene_associated_with_condition MONDO:0009436 infores:clingen HGNC:11119 MONDO:0009436 Moderate 2023-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33566da0-0f61-4dc5-b629-affb4e68e9c7-2023-10-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5898 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:9839 MONDO:0100038 Definitive 2024-07-03T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ead7886-1be4-404c-977c-0f352a6906f9-2024-07-03T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:4537 biolink:gene_associated_with_condition MONDO:0027068 infores:ubergraph knowledge_assertion manual_agent HGNC:7458 MONDO:0027068 NCBIGene:56922 biolink:gene_associated_with_condition MONDO:0008861 infores:clingen NCBIGene:56922 MONDO:0008861 Gene associated with autosomal recessive phenotype 30 NCBIGene:30008 biolink:gene_associated_with_condition MONDO:0013754 infores:clingen HGNC:3219 MONDO:0013754 Definitive 2024-08-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8911130f-a1fc-4404-8905-5632a49a95fe-2024-08-23T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23064 biolink:gene_associated_with_condition MONDO:0011223 infores:ubergraph knowledge_assertion manual_agent HGNC:445 MONDO:0011223 NCBIGene:113189 biolink:gene_associated_with_condition MONDO:0020681 infores:ubergraph knowledge_assertion manual_agent HGNC:24464 MONDO:0020681 NCBIGene:8905 biolink:gene_associated_with_condition MONDO:1040018 infores:clingen HGNC:560 MONDO:1040018 Definitive 2025-04-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9caaaacd-e262-421c-826b-8433848721ff-2025-04-22T160000.000Z XL X-linked 0001417 NCBIGene:84978 biolink:gene_associated_with_condition MONDO:0859305 infores:ubergraph knowledge_assertion manual_agent HGNC:28214 MONDO:0859305 NCBIGene:55217 biolink:gene_associated_with_condition MONDO:0010469 infores:ubergraph knowledge_assertion manual_agent HGNC:18308 MONDO:0010469 NCBIGene:6103 biolink:gene_associated_with_condition MONDO:0100437 infores:clingen HGNC:10295 MONDO:0100437 Definitive 2022-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ad94c7-d914-4a84-ab33-597c8d4bafdd-2022-08-05T160000.000Z XL X-linked 0001417 NCBIGene:55572 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55572 MONDO:0700096 No evidence available 0 true NCBIGene:1193 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:2063 MONDO:0100148 Disputed 2021-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e8ec6b8-5189-43eb-a741-833c77e7ce91-2021-02-16T170000.000Z XL X-linked 0001417 NCBIGene:10483 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10483 MONDO:0700096 No evidence available 0 true NCBIGene:5956 biolink:gene_associated_with_condition MONDO:0010565 infores:ubergraph knowledge_assertion manual_agent HGNC:9936 MONDO:0010565 NCBIGene:57038 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:57038 MONDO:0700096 No evidence available 0 true NCBIGene:2668 biolink:gene_associated_with_condition MONDO:0013383 infores:ubergraph knowledge_assertion manual_agent HGNC:4232 MONDO:0013383 NCBIGene:57589 biolink:gene_associated_with_condition MONDO:0032901 infores:ubergraph knowledge_assertion manual_agent HGNC:17686 MONDO:0032901 NCBIGene:6775 biolink:gene_associated_with_condition MONDO:0012835 infores:ubergraph knowledge_assertion manual_agent HGNC:11365 MONDO:0012835 NCBIGene:991 biolink:gene_associated_with_condition MONDO:0859521 infores:ubergraph knowledge_assertion manual_agent HGNC:1723 MONDO:0859521 NCBIGene:10677 biolink:gene_associated_with_condition MONDO:0032826 infores:clingen HGNC:14188 MONDO:0032826 Limited 2024-08-27T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04806c21-071c-4a74-96c2-ab89ef5ba0e0-2024-08-27T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:79648 biolink:gene_associated_with_condition MONDO:0009617 infores:ubergraph knowledge_assertion manual_agent HGNC:6954 MONDO:0009617 NCBIGene:1639 biolink:gene_associated_with_condition MONDO:0100624 infores:ubergraph knowledge_assertion manual_agent HGNC:2711 MONDO:0100624 NCBIGene:64388 biolink:gene_associated_with_condition MONDO:0014999 infores:clingen HGNC:17655 MONDO:0014999 Limited 2025-01-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef7b431e-de56-4e8b-a505-122f2e04a80a-2025-01-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:80222 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:30740 MONDO:0009723 Limited 2021-06-14T14:44:25.888Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_475a994f-8420-45bb-8f14-9fe85cdcdbbc-2021-06-14T144425.888Z AR Autosomal Recessive 0000007 NCBIGene:256471 biolink:gene_associated_with_condition MONDO:0014515 infores:ubergraph knowledge_assertion manual_agent HGNC:28486 MONDO:0014515 NCBIGene:6609 biolink:gene_associated_with_condition MONDO:0011871 infores:ubergraph knowledge_assertion manual_agent HGNC:11120 MONDO:0011871 NCBIGene:89910 biolink:gene_associated_with_condition MONDO:0009485 infores:ubergraph knowledge_assertion manual_agent HGNC:13478 MONDO:0009485 NCBIGene:7161 biolink:gene_associated_with_condition MONDO:0030346 infores:ubergraph knowledge_assertion manual_agent HGNC:12003 MONDO:0030346 NCBIGene:10243 biolink:gene_associated_with_condition MONDO:0014212 infores:clingen HGNC:15465 MONDO:0014212 Moderate 2023-05-12T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29f6ebf3-c4c5-4770-b7d1-50816b9f9d74-2023-05-12T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:8504 biolink:gene_associated_with_condition MONDO:0100261 infores:ubergraph knowledge_assertion manual_agent HGNC:8858 MONDO:0100261 NCBIGene:4577 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7500 MONDO:0009723 Moderate 2021-04-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42f2fc91-c26d-416c-8d93-448e4a52983b-2021-04-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:29968 biolink:gene_associated_with_condition MONDO:0012596 infores:ubergraph knowledge_assertion manual_agent HGNC:19129 MONDO:0012596 NCBIGene:9772 biolink:gene_associated_with_condition MONDO:0032672 infores:ubergraph knowledge_assertion manual_agent HGNC:28983 MONDO:0032672 NCBIGene:6792 biolink:gene_associated_with_condition MONDO:0100039 infores:clingen HGNC:11411 MONDO:0100039 Definitive 2018-07-02T14:57:31.072Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a80cd86d-b085-4f35-9379-12a53ef367e2-2018-07-02T145731.072Z XL X-linked 0001417 NCBIGene:7703 biolink:gene_associated_with_condition MONDO:0032707 infores:ubergraph knowledge_assertion manual_agent HGNC:12929 MONDO:0032707 NCBIGene:345193 biolink:gene_associated_with_condition MONDO:1040035 infores:ubergraph knowledge_assertion manual_agent HGNC:24783 MONDO:1040035 NCBIGene:6389 biolink:gene_associated_with_condition MONDO:0100294 infores:ubergraph knowledge_assertion manual_agent HGNC:10680 MONDO:0100294 NCBIGene:404672 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:404672 MONDO:0700096 No evidence available 0 true NCBIGene:3998 biolink:gene_associated_with_condition MONDO:0009206 infores:ubergraph knowledge_assertion manual_agent HGNC:6631 MONDO:0009206 NCBIGene:1822 biolink:gene_associated_with_condition MONDO:0032781 infores:ubergraph knowledge_assertion manual_agent HGNC:3033 MONDO:0032781 NCBIGene:51726 biolink:gene_associated_with_condition MONDO:0054842 infores:ubergraph knowledge_assertion manual_agent HGNC:14889 MONDO:0054842 NCBIGene:1777 biolink:gene_associated_with_condition MONDO:0800132 infores:ubergraph knowledge_assertion manual_agent HGNC:2960 MONDO:0800132 NCBIGene:1788 biolink:gene_associated_with_condition MONDO:0032882 infores:ubergraph knowledge_assertion manual_agent HGNC:2978 MONDO:0032882 NCBIGene:6929 biolink:gene_associated_with_condition MONDO:0014840 infores:ubergraph knowledge_assertion manual_agent HGNC:11633 MONDO:0014840 NCBIGene:22866 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:19701 MONDO:0100148 Definitive 2020-12-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_420ee599-c745-43b9-b9a9-c80dfd7f68a8-2020-12-16T170000.000Z XL X-linked 0001417 NCBIGene:1080 biolink:gene_associated_with_condition MONDO:0010178 infores:ubergraph knowledge_assertion manual_agent HGNC:1884 MONDO:0010178 NCBIGene:6505 biolink:gene_associated_with_condition MONDO:0009110 infores:ubergraph knowledge_assertion manual_agent HGNC:10939 MONDO:0009110 NCBIGene:8892 biolink:gene_associated_with_condition MONDO:0957870 infores:clingen HGNC:3258 MONDO:0957870 Definitive 2024-12-11T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_875faedd-30bd-4e6d-803f-6244a04f37a5-2024-12-11T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7018 biolink:gene_associated_with_condition MONDO:0008846 infores:clingen HGNC:11740 MONDO:0008846 Moderate 2025-09-26T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8191bb4-d729-4004-9b68-2d4aee81bd7d-2025-09-26T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:283989 biolink:gene_associated_with_condition MONDO:0020135 infores:clingen NCBIGene:283989 MONDO:0020135 Gene associated with autosomal recessive phenotype 30 NCBIGene:23065 biolink:gene_associated_with_condition MONDO:0100516 infores:clingen HGNC:28957 MONDO:0100516 Moderate 2022-11-03T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_659c7312-5d0a-44d0-9bd0-3e2b2ba385ce-2022-11-03T013000.000Z AR Autosomal Recessive 0000007 NCBIGene:79158 biolink:gene_associated_with_condition MONDO:0100122 infores:clingen HGNC:29670 MONDO:0100122 Definitive 2023-04-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53e7d8eb-de36-49d5-ba29-57f640a492bc-2023-04-28T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0018214 infores:clingen HGNC:10585 MONDO:0018214 Definitive 2019-09-06T19:43:57.485Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ac39f7a-0743-47b1-8efd-21e0ca836840-2019-09-06T194357.485Z AD Autosomal Dominant 0000006 NCBIGene:81620 biolink:gene_associated_with_condition MONDO:0013431 infores:ubergraph knowledge_assertion manual_agent HGNC:24576 MONDO:0013431 NCBIGene:51399 biolink:gene_associated_with_condition MONDO:0032894 infores:clingen HGNC:19943 MONDO:0032894 Definitive 2024-01-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51f66c13-6d48-48c0-b8d7-2ba58dd7a09d-2024-01-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:6323 biolink:gene_associated_with_condition MONDO:0100079 infores:clingen NCBIGene:6323 MONDO:0100079 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10371 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10371 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:4572 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7495 MONDO:0044970 Limited 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be8894e0-8d48-4f4a-86cd-66bc465cde70-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:4771 biolink:gene_associated_with_condition MONDO:0859764 infores:ubergraph knowledge_assertion manual_agent HGNC:7773 MONDO:0859764 NCBIGene:6337 biolink:gene_associated_with_condition MONDO:0009917 infores:clingen HGNC:10599 MONDO:0009917 Strong 2021-11-18T01:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38f18fef-1443-4005-a358-31f7d3a96ee0-2021-11-18T013000.000Z AR Autosomal Recessive 0000007 NCBIGene:166785 biolink:gene_associated_with_condition MONDO:0009613 infores:ubergraph knowledge_assertion manual_agent HGNC:18871 MONDO:0009613 NCBIGene:85476 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:85476 MONDO:0700096 No evidence available 0 true NCBIGene:1717 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1717 MONDO:0700096 No evidence available 0 true NCBIGene:5205 biolink:gene_associated_with_condition MONDO:0008892 infores:ubergraph knowledge_assertion manual_agent HGNC:3706 MONDO:0008892 NCBIGene:4976 biolink:gene_associated_with_condition MONDO:0008858 infores:ubergraph knowledge_assertion manual_agent HGNC:8140 MONDO:0008858 NCBIGene:2271 biolink:gene_associated_with_condition MONDO:0007888 infores:clingen NCBIGene:2271 MONDO:0007888 Definitive 2020-05-14T00:23:34.007Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59e42ccd-2b0b-441c-8529-6eb1e9dde330-2020-05-14T002334.007Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:161497 biolink:gene_associated_with_condition MONDO:0011364 infores:ubergraph knowledge_assertion manual_agent HGNC:16035 MONDO:0011364 NCBIGene:167691 biolink:gene_associated_with_condition MONDO:0011473 infores:clingen NCBIGene:167691 MONDO:0011473 Gene associated with autosomal recessive phenotype 30 NCBIGene:5311 biolink:gene_associated_with_condition MONDO:0004691 infores:clingen HGNC:9009 MONDO:0004691 Definitive 2023-12-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae0ae123-be04-4ba2-b685-594ca47a3467-2023-12-08T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2538 biolink:gene_associated_with_condition MONDO:0009287 infores:ubergraph knowledge_assertion manual_agent HGNC:4056 MONDO:0009287 NCBIGene:6096 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6096 MONDO:0700096 No evidence available 0 true NCBIGene:3910 biolink:gene_associated_with_condition MONDO:0014095 infores:ubergraph knowledge_assertion manual_agent HGNC:6484 MONDO:0014095 NCBIGene:861 biolink:gene_associated_with_condition MONDO:0100083 infores:clingen NCBIGene:861 MONDO:0100083 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3752 biolink:gene_associated_with_condition MONDO:0011819 infores:ubergraph knowledge_assertion manual_agent HGNC:6239 MONDO:0011819 NCBIGene:347344 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:347344 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:2892 biolink:gene_associated_with_condition MONDO:0010402 infores:ubergraph knowledge_assertion manual_agent HGNC:4573 MONDO:0010402 NCBIGene:2625 biolink:gene_associated_with_condition MONDO:0007797 infores:ubergraph knowledge_assertion manual_agent HGNC:4172 MONDO:0007797 NCBIGene:1277 biolink:gene_associated_with_condition MONDO:0100599 infores:clingen HGNC:2197 MONDO:0100599 Definitive 2022-10-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da1aeef0-2dae-4b96-9ac8-946374a09cb6-2022-10-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:128178 biolink:gene_associated_with_condition MONDO:0013982 infores:ubergraph knowledge_assertion manual_agent HGNC:14341 MONDO:0013982 NCBIGene:343450 biolink:gene_associated_with_condition MONDO:0033366 infores:ubergraph knowledge_assertion manual_agent HGNC:18866 MONDO:0033366 NCBIGene:51109 biolink:gene_associated_with_condition MONDO:0014495 infores:ubergraph knowledge_assertion manual_agent HGNC:17964 MONDO:0014495 NCBIGene:221927 biolink:gene_associated_with_condition MONDO:0013784 infores:clingen HGNC:21701 MONDO:0013784 Definitive 2022-09-13T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_698a4cb3-df52-432b-9d3e-d3d76111db25-2022-09-13T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2161 biolink:gene_associated_with_condition MONDO:0012526 infores:ubergraph knowledge_assertion manual_agent HGNC:3530 MONDO:0012526 NCBIGene:57165 biolink:gene_associated_with_condition MONDO:0012125 infores:clingen HGNC:17494 MONDO:0012125 Definitive 2025-03-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bb53a46-83ae-4585-9b6b-c8f1aad1c4ab-2025-03-12T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7518 biolink:gene_associated_with_condition MONDO:0018630 infores:clingen HGNC:12831 MONDO:0018630 Limited 2017-05-08T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9865 AD Autosomal Dominant 0000006 NCBIGene:9997 biolink:gene_associated_with_condition MONDO:0012154 infores:ubergraph knowledge_assertion manual_agent HGNC:10604 MONDO:0012154 NCBIGene:3240 biolink:gene_associated_with_condition MONDO:0013564 infores:ubergraph knowledge_assertion manual_agent HGNC:5141 MONDO:0013564 NCBIGene:10456 biolink:gene_associated_with_condition MONDO:0012548 infores:ubergraph knowledge_assertion manual_agent HGNC:16915 MONDO:0012548 NCBIGene:5071 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5071 MONDO:0700096 No evidence available 0 true NCBIGene:208 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:208 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:10984 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10984 MONDO:0700096 No evidence available 0 true NCBIGene:391356 biolink:gene_associated_with_condition MONDO:0958323 infores:ubergraph knowledge_assertion manual_agent HGNC:33782 MONDO:0958323 NCBIGene:79029 biolink:gene_associated_with_condition MONDO:0859206 infores:ubergraph knowledge_assertion manual_agent HGNC:28762 MONDO:0859206 NCBIGene:1605 biolink:gene_associated_with_condition MONDO:0014683 infores:ubergraph knowledge_assertion manual_agent HGNC:2666 MONDO:0014683 NCBIGene:1465 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:2469 MONDO:0005453 Disputed 2024-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b92d7b82-72c1-4d19-82fc-078f89bfc2cb-2024-07-02T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:23013 biolink:gene_associated_with_condition MONDO:0859143 infores:clingen HGNC:17575 MONDO:0859143 Definitive 2023-11-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4800898-ad53-4fec-8b29-dd0a8225919b-2023-11-01T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2670 biolink:gene_associated_with_condition MONDO:0008752 infores:ubergraph knowledge_assertion manual_agent HGNC:4235 MONDO:0008752 NCBIGene:779 biolink:gene_associated_with_condition MONDO:0011163 infores:ubergraph knowledge_assertion manual_agent HGNC:1397 MONDO:0011163 NCBIGene:11078 biolink:gene_associated_with_condition MONDO:0012355 infores:clingen NCBIGene:11078 MONDO:0012355 Gene associated with autosomal recessive phenotype 30 NCBIGene:4233 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4233 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:286204 biolink:gene_associated_with_condition MONDO:0014539 infores:ubergraph knowledge_assertion manual_agent HGNC:18688 MONDO:0014539 NCBIGene:9681 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9681 MONDO:0700096 No evidence available 0 true NCBIGene:5896 biolink:gene_associated_with_condition MONDO:0012359 infores:ubergraph knowledge_assertion manual_agent HGNC:9831 MONDO:0012359 NCBIGene:2303 biolink:gene_associated_with_condition MONDO:0007922 infores:ubergraph knowledge_assertion manual_agent HGNC:3801 MONDO:0007922 NCBIGene:23316 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:19347 MONDO:0100062 Moderate 2023-05-16T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cf65346-db93-42cd-8911-0386bd314a79-2023-05-16T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:23562 biolink:gene_associated_with_condition MONDO:0013537 infores:clingen NCBIGene:23562 MONDO:0013537 Gene associated with autosomal recessive phenotype 30 NCBIGene:4723 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7716 MONDO:0009723 Definitive 2019-11-26T16:34:30.120Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b96e332-59c4-4636-8bdf-bf893ea059f1-2019-11-26T163430.120Z AR Autosomal Recessive 0000007 NCBIGene:8092 biolink:gene_associated_with_condition MONDO:0013271 infores:clingen HGNC:1494 MONDO:0013271 Definitive 2022-10-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ade0e1d8-3f68-4276-bc1d-173ca2d4936f-2022-10-13T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3039 MONDO:0700096 No evidence available 0 true NCBIGene:79912 biolink:gene_associated_with_condition MONDO:0014993 infores:ubergraph knowledge_assertion manual_agent HGNC:26162 MONDO:0014993 NCBIGene:4849 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:7879 MONDO:0100038 Definitive 2021-08-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_585384c5-8958-4934-af26-4040774a644c-2021-08-24T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:55157 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25538 MONDO:0044970 Definitive 2022-05-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3fc3cd8-48aa-4e02-8324-b3412fcfa64f-2022-05-04T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23474 biolink:gene_associated_with_condition MONDO:0011229 infores:ubergraph knowledge_assertion manual_agent HGNC:23287 MONDO:0011229 NCBIGene:1135 biolink:gene_associated_with_condition MONDO:0012474 infores:ubergraph knowledge_assertion manual_agent HGNC:1956 MONDO:0012474 NCBIGene:1173 biolink:gene_associated_with_condition MONDO:0032823 infores:ubergraph knowledge_assertion manual_agent HGNC:564 MONDO:0032823 NCBIGene:1281 biolink:gene_associated_with_condition MONDO:0017314 infores:clingen NCBIGene:1281 MONDO:0017314 Definitive 2019-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce795591-1c7c-4a52-886a-a294293c67c3-2019-02-27T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1738 biolink:gene_associated_with_condition MONDO:0009529 infores:clingen HGNC:2898 MONDO:0009529 Definitive 2019-03-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9dfbbc2-cede-491e-9db0-fc5719fbc729-2019-03-08T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:672 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:672 MONDO:0700096 No evidence available 0 true NCBIGene:374654 biolink:gene_associated_with_condition MONDO:0008708 infores:clingen NCBIGene:374654 MONDO:0008708 Gene associated with autosomal recessive phenotype 30 NCBIGene:9211 biolink:gene_associated_with_condition MONDO:0010898 infores:clingen NCBIGene:9211 MONDO:0010898 Definitive 2020-07-07T18:39:07.849Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_662936d4-11a7-43f3-9daf-4ba1a7c92ffe-2020-07-07T183907.849Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2314 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:3750 MONDO:0005021 Moderate 2024-06-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_660622fe-f967-42be-a565-0383e5f710c2-2024-06-14T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:23013 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:23013 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:79587 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25695 MONDO:0044970 Moderate 2022-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a07aaa07-ad0d-4dac-8751-18242a3f36a9-2022-05-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4591 biolink:gene_associated_with_condition MONDO:0009664 infores:ubergraph knowledge_assertion manual_agent HGNC:7523 MONDO:0009664 NCBIGene:4256 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4256 MONDO:0700096 No evidence available 0 true NCBIGene:3636 biolink:gene_associated_with_condition MONDO:0009785 infores:ubergraph knowledge_assertion manual_agent HGNC:6080 MONDO:0009785 NCBIGene:6229 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6229 MONDO:0700096 No evidence available 0 true NCBIGene:6121 biolink:gene_associated_with_condition MONDO:0100368 infores:ubergraph knowledge_assertion manual_agent HGNC:10294 MONDO:0100368 NCBIGene:337 biolink:gene_associated_with_condition MONDO:0976234 infores:ubergraph knowledge_assertion manual_agent HGNC:602 MONDO:0976234 NCBIGene:79648 biolink:gene_associated_with_condition MONDO:0100200 infores:clingen HGNC:6954 MONDO:0100200 Definitive 2023-01-17T07:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c193837-0c45-4363-8953-a49f08e242a0-2023-01-17T070000.000Z AR Autosomal Recessive 0000007 NCBIGene:4633 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:7583 MONDO:0005021 Limited 2025-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8405609b-1664-4849-848e-bec138350c92-2025-05-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:494513 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:29502 MONDO:0019497 Definitive 2017-12-19T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3e304c3-33fd-41ec-81f9-1c0725a5549f-2017-12-19T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:8260 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8260 MONDO:0700096 No evidence available 0 true NCBIGene:9917 biolink:gene_associated_with_condition MONDO:0100588 infores:ubergraph knowledge_assertion manual_agent HGNC:23017 MONDO:0100588 NCBIGene:26249 biolink:gene_associated_with_condition MONDO:0013781 infores:ubergraph knowledge_assertion manual_agent HGNC:6354 MONDO:0013781 NCBIGene:5351 biolink:gene_associated_with_condition MONDO:0016002 infores:ubergraph knowledge_assertion manual_agent HGNC:9081 MONDO:0016002 NCBIGene:4337 biolink:gene_associated_with_condition MONDO:0009643 infores:clingen HGNC:7190 MONDO:0009643 Definitive 2022-04-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c7c418c-3aea-415f-9953-c84526232963-2022-04-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4208 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4208 MONDO:0700096 Little evidence for dosage pathogenicity 1 true NCBIGene:5076 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5076 MONDO:0700096 No evidence available 0 true NCBIGene:8195 biolink:gene_associated_with_condition MONDO:1040050 infores:clingen HGNC:7108 MONDO:1040050 Definitive 2024-05-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c054871f-bcf0-48c1-a252-5c02d05adc97-2024-05-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:26146 biolink:gene_associated_with_condition MONDO:0014712 infores:ubergraph knowledge_assertion manual_agent HGNC:17861 MONDO:0014712 NCBIGene:55055 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:55055 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:10667 biolink:gene_associated_with_condition MONDO:0013986 infores:ubergraph knowledge_assertion manual_agent HGNC:21062 MONDO:0013986 NCBIGene:26258 biolink:gene_associated_with_condition MONDO:0013606 infores:clingen HGNC:8549 MONDO:0013606 Definitive 2022-05-25T16:55:16.466Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_984682a2-afb9-48b3-afe8-20e0f633022d-2022-05-25T165516.466Z AR Autosomal Recessive 0000007 NCBIGene:7157 biolink:gene_associated_with_condition MONDO:0032573 infores:ubergraph knowledge_assertion manual_agent HGNC:11998 MONDO:0032573 NCBIGene:26275 biolink:gene_associated_with_condition MONDO:0009603 infores:ubergraph knowledge_assertion manual_agent HGNC:4908 MONDO:0009603 NCBIGene:1258 biolink:gene_associated_with_condition MONDO:0800403 infores:clingen HGNC:2151 MONDO:0800403 Definitive 2022-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664a3eaa-0139-4f5a-8f97-a4a7e00ddfd3-2022-09-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:50651 biolink:gene_associated_with_condition MONDO:0044322 infores:ubergraph knowledge_assertion manual_agent HGNC:17939 MONDO:0044322 NCBIGene:4311 biolink:gene_associated_with_condition MONDO:0014866 infores:clingen HGNC:7154 MONDO:0014866 Definitive 2022-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d426d95-70b5-4537-809f-9f2520fc39e9-2022-08-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:25913 biolink:gene_associated_with_condition MONDO:0014368 infores:ubergraph knowledge_assertion manual_agent HGNC:17284 MONDO:0014368 NCBIGene:9568 biolink:gene_associated_with_condition MONDO:0033368 infores:ubergraph knowledge_assertion manual_agent HGNC:4507 MONDO:0033368 NCBIGene:1778 biolink:gene_associated_with_condition MONDO:1040031 infores:ubergraph knowledge_assertion manual_agent HGNC:2961 MONDO:1040031 NCBIGene:23562 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:2035 MONDO:0019497 Definitive 2018-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17528cdb-97e0-4128-92de-9e419902aa62-2018-05-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9681 biolink:gene_associated_with_condition MONDO:0005384 infores:clingen NCBIGene:9681 MONDO:0005384 Definitive 2018-08-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82a82c75-f9a5-4f51-a15c-6513c13df57c-2018-08-07T040000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3110 biolink:gene_associated_with_condition MONDO:0008305 infores:clingen NCBIGene:3110 MONDO:0008305 Sufficient evidence for dosage pathogenicity 3 NCBIGene:1259 biolink:gene_associated_with_condition MONDO:0800405 infores:ubergraph knowledge_assertion manual_agent HGNC:2148 MONDO:0800405 NCBIGene:4094 biolink:gene_associated_with_condition MONDO:0010992 infores:ubergraph knowledge_assertion manual_agent HGNC:6776 MONDO:0010992 NCBIGene:9254 biolink:gene_associated_with_condition MONDO:0032788 infores:ubergraph knowledge_assertion manual_agent HGNC:1400 MONDO:0032788 NCBIGene:1588 biolink:gene_associated_with_condition MONDO:0013301 infores:ubergraph knowledge_assertion manual_agent HGNC:2594 MONDO:0013301 NCBIGene:84634 biolink:gene_associated_with_condition MONDO:0013910 infores:ubergraph knowledge_assertion manual_agent HGNC:4510 MONDO:0013910 NCBIGene:343641 biolink:gene_associated_with_condition MONDO:0013485 infores:ubergraph knowledge_assertion manual_agent HGNC:16255 MONDO:0013485 NCBIGene:57156 biolink:gene_associated_with_condition MONDO:0031019 infores:ubergraph knowledge_assertion manual_agent HGNC:23787 MONDO:0031019 NCBIGene:866 biolink:gene_associated_with_condition MONDO:0012675 infores:ubergraph knowledge_assertion manual_agent HGNC:1540 MONDO:0012675 NCBIGene:116444 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:116444 MONDO:0700096 No evidence available 0 true Dosage sensitivity unlikely 40 NCBIGene:79867 biolink:gene_associated_with_condition MONDO:0013482 infores:clingen NCBIGene:79867 MONDO:0013482 Gene associated with autosomal recessive phenotype 30 NCBIGene:27255 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:2176 MONDO:0100038 Disputed 2022-09-20T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bda9083a-7edc-4102-be62-e1c62d0a6bc2-2022-09-20T060000.000Z AD Autosomal Dominant 0000006 NCBIGene:10021 biolink:gene_associated_with_condition MONDO:0030434 infores:ubergraph knowledge_assertion manual_agent HGNC:16882 MONDO:0030434 NCBIGene:83999 biolink:gene_associated_with_condition MONDO:0044305 infores:ubergraph knowledge_assertion manual_agent HGNC:17550 MONDO:0044305 NCBIGene:63895 biolink:gene_associated_with_condition MONDO:0007252 infores:ubergraph knowledge_assertion manual_agent HGNC:26270 MONDO:0007252 NCBIGene:2664 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2664 MONDO:0700096 No evidence available 0 true NCBIGene:80746 biolink:gene_associated_with_condition MONDO:0012890 infores:ubergraph knowledge_assertion manual_agent HGNC:28422 MONDO:0012890 NCBIGene:79005 biolink:gene_associated_with_condition MONDO:0859310 infores:ubergraph knowledge_assertion manual_agent HGNC:23136 MONDO:0859310 NCBIGene:400916 biolink:gene_associated_with_condition MONDO:0014532 infores:ubergraph knowledge_assertion manual_agent HGNC:15559 MONDO:0014532 HGNC:5716 biolink:gene_associated_with_condition MONDO:0013576 infores:ubergraph knowledge_assertion manual_agent HGNC:5716 MONDO:0013576 NCBIGene:11093 biolink:gene_associated_with_condition MONDO:0010122 infores:ubergraph knowledge_assertion manual_agent HGNC:1366 MONDO:0010122 NCBIGene:4938 biolink:gene_associated_with_condition MONDO:0020840 infores:ubergraph knowledge_assertion manual_agent HGNC:8086 MONDO:0020840 NCBIGene:2245 biolink:gene_associated_with_condition MONDO:0010589 infores:clingen NCBIGene:2245 MONDO:0010589 Definitive 2017-12-06T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b652280-1291-4166-ac59-62caabd977bb-2017-12-06T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:55870 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:55870 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29925 biolink:gene_associated_with_condition MONDO:0700084 infores:clingen HGNC:22932 MONDO:0700084 Definitive 2024-08-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44d2e0f3-d2c4-4879-8bc8-2f3bdd4cfac5-2024-08-13T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:4929 biolink:gene_associated_with_condition MONDO:0859257 infores:ubergraph knowledge_assertion manual_agent HGNC:7981 MONDO:0859257 NCBIGene:10577 biolink:gene_associated_with_condition MONDO:0011873 infores:ubergraph knowledge_assertion manual_agent HGNC:14537 MONDO:0011873 NCBIGene:582 biolink:gene_associated_with_condition MONDO:1040043 infores:ubergraph knowledge_assertion manual_agent HGNC:966 MONDO:1040043 NCBIGene:5828 biolink:gene_associated_with_condition MONDO:0019234 infores:clingen HGNC:9717 MONDO:0019234 Definitive 2020-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17bf1c4a-1775-40c6-a499-774c93827343-2020-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:80222 biolink:gene_associated_with_condition MONDO:0014398 infores:ubergraph knowledge_assertion manual_agent HGNC:30740 MONDO:0014398 NCBIGene:2059 biolink:gene_associated_with_condition MONDO:0014428 infores:ubergraph knowledge_assertion manual_agent HGNC:3420 MONDO:0014428 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0030525 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0030525 NCBIGene:10750 biolink:gene_associated_with_condition MONDO:0032761 infores:ubergraph knowledge_assertion manual_agent HGNC:4562 MONDO:0032761 NCBIGene:2629 biolink:gene_associated_with_condition MONDO:0011945 infores:ubergraph knowledge_assertion manual_agent HGNC:4177 MONDO:0011945 NCBIGene:5199 biolink:gene_associated_with_condition MONDO:0010713 infores:ubergraph knowledge_assertion manual_agent HGNC:8864 MONDO:0010713 NCBIGene:22948 biolink:gene_associated_with_condition MONDO:0009748 infores:clingen NCBIGene:22948 MONDO:0009748 Gene associated with autosomal recessive phenotype 30 NCBIGene:2801 biolink:gene_associated_with_condition MONDO:0859375 infores:ubergraph knowledge_assertion manual_agent HGNC:4425 MONDO:0859375 NCBIGene:100131801 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:40038 MONDO:0009723 Moderate 2019-05-20T19:13:47.510Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c546f5-a285-424b-9ae2-9ca4fc718c67-2019-05-20T191347.510Z AR Autosomal Recessive 0000007 NCBIGene:51 biolink:gene_associated_with_condition MONDO:0009919 infores:ubergraph knowledge_assertion manual_agent HGNC:119 MONDO:0009919 NCBIGene:1489 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:2499 MONDO:0005021 Limited 2024-08-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef19cc13-543b-451e-b278-ec1fc04f694c-2024-08-07T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0800441 infores:clingen NCBIGene:1482 MONDO:0800441 Definitive 2024-11-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c429ebe5-43ec-40e7-9d73-55bbbb44f6d1-2024-11-07T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:57539 biolink:gene_associated_with_condition MONDO:0013569 infores:clingen NCBIGene:57539 MONDO:0013569 Definitive 2022-02-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e3f8578-6df2-4503-9e38-c110a9f00924-2022-02-23T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6558 biolink:gene_associated_with_condition MONDO:0033664 infores:ubergraph knowledge_assertion manual_agent HGNC:10911 MONDO:0033664 NCBIGene:383 biolink:gene_associated_with_condition MONDO:0008814 infores:ubergraph knowledge_assertion manual_agent HGNC:663 MONDO:0008814 NCBIGene:1327 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:2265 MONDO:0009723 Limited 2021-04-09T13:58:24.042Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d56c1fe4-7711-45f4-992c-7e9586b9efc6-2021-04-09T135824.042Z AR Autosomal Recessive 0000007 NCBIGene:4076 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:4076 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:112939 biolink:gene_associated_with_condition MONDO:0800475 infores:clingen HGNC:20967 MONDO:0800475 Definitive 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd05706d-fd13-4f5e-9063-f49d7bbefd97-2023-10-04T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2299 biolink:gene_associated_with_condition MONDO:0023069 infores:clingen HGNC:3815 MONDO:0023069 Disputed 2018-02-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3a6b8fa-01d1-4f32-a45e-9c9582e14280-2018-02-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:726 biolink:gene_associated_with_condition MONDO:0100450 infores:clingen HGNC:1482 MONDO:0100450 Definitive 2021-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d39e430-b1fc-43f1-957b-1c02eb66a69c-2021-08-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5881 biolink:gene_associated_with_condition MONDO:0032820 infores:ubergraph knowledge_assertion manual_agent HGNC:9803 MONDO:0032820 NCBIGene:1836 biolink:gene_associated_with_condition MONDO:0100592 infores:ubergraph knowledge_assertion manual_agent HGNC:10994 MONDO:0100592 NCBIGene:28981 biolink:gene_associated_with_condition MONDO:0033485 infores:ubergraph knowledge_assertion manual_agent HGNC:14313 MONDO:0033485 NCBIGene:10379 biolink:gene_associated_with_condition MONDO:0032848 infores:ubergraph knowledge_assertion manual_agent HGNC:6131 MONDO:0032848 NCBIGene:5894 biolink:gene_associated_with_condition MONDO:0014396 infores:ubergraph knowledge_assertion manual_agent HGNC:9829 MONDO:0014396 NCBIGene:8295 biolink:gene_associated_with_condition MONDO:0100465 infores:clingen HGNC:12347 MONDO:0100465 Definitive 2022-07-19T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03424cde-a847-4bd0-91eb-9707a7e51fa2-2022-07-19T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:57057 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:11598 MONDO:0005453 Moderate 2024-05-07T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67706e90-ac03-4b96-94e2-4a561ced4a41-2024-05-07T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:124590 biolink:gene_associated_with_condition MONDO:0011748 infores:clingen NCBIGene:124590 MONDO:0011748 Gene associated with autosomal recessive phenotype 30 NCBIGene:1261 biolink:gene_associated_with_condition MONDO:0800102 infores:clingen HGNC:2150 MONDO:0800102 Definitive 2022-02-03T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39fe36b7-54c3-486b-a9f9-19bce71f096e-2022-02-03T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:916 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:916 MONDO:0700096 No evidence available 0 true NCBIGene:999 biolink:gene_associated_with_condition MONDO:0100199 infores:ubergraph knowledge_assertion manual_agent HGNC:1748 MONDO:0100199 NCBIGene:6134 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6134 MONDO:0700096 No evidence available 0 true NCBIGene:50619 biolink:gene_associated_with_condition MONDO:0030457 infores:ubergraph knowledge_assertion manual_agent HGNC:2760 MONDO:0030457 NCBIGene:51200 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51200 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1290 biolink:gene_associated_with_condition MONDO:0007522 infores:clingen HGNC:2210 MONDO:0007522 Definitive 2021-03-24T18:42:45.711Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1901d495-d33f-4741-88fd-4b66ac43bbad-2021-03-24T184245.711Z AD Autosomal Dominant 0000006 NCBIGene:3043 biolink:gene_associated_with_condition MONDO:0013517 infores:ubergraph knowledge_assertion manual_agent HGNC:4827 MONDO:0013517 NCBIGene:5428 biolink:gene_associated_with_condition MONDO:0011835 infores:ubergraph knowledge_assertion manual_agent HGNC:9179 MONDO:0011835 NCBIGene:125150 biolink:gene_associated_with_condition MONDO:0030787 infores:ubergraph knowledge_assertion manual_agent HGNC:26993 MONDO:0030787 NCBIGene:3897 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3897 MONDO:0700096 No evidence available 0 true NCBIGene:2516 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2516 MONDO:0700096 No evidence available 0 true NCBIGene:55830 biolink:gene_associated_with_condition MONDO:0004976 infores:clingen HGNC:24870 MONDO:0004976 Limited 2025-01-14T20:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2c4f919-ccb5-4d9f-a604-5ed19e19057e-2025-01-14T200000.000Z AD Autosomal Dominant 0000006 NCBIGene:1503 biolink:gene_associated_with_condition MONDO:0014391 infores:ubergraph knowledge_assertion manual_agent HGNC:2519 MONDO:0014391 NCBIGene:10641 biolink:gene_associated_with_condition MONDO:0014924 infores:ubergraph knowledge_assertion manual_agent HGNC:24969 MONDO:0014924 NCBIGene:9896 biolink:gene_associated_with_condition MONDO:0012945 infores:clingen HGNC:16873 MONDO:0012945 Limited 2022-08-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d038fb84-1f98-4047-b6c5-039a53756775-2022-08-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0007844 infores:ubergraph knowledge_assertion manual_agent HGNC:3688 MONDO:0007844 NCBIGene:6448 biolink:gene_associated_with_condition MONDO:0009655 infores:clingen NCBIGene:6448 MONDO:0009655 Definitive 2022-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_438dab6d-abf4-44e8-a176-bb39ae128052-2022-06-15T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5644 biolink:gene_associated_with_condition MONDO:0008185 infores:clingen HGNC:9475 MONDO:0008185 Definitive 2020-07-30T20:50:14.833Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d271c52b-b0bb-4e9b-a745-ea03dc716fa0-2020-07-30T205014.833Z AD Autosomal Dominant 0000006 NCBIGene:23141 biolink:gene_associated_with_condition MONDO:0014730 infores:ubergraph knowledge_assertion manual_agent HGNC:29101 MONDO:0014730 NCBIGene:8813 biolink:gene_associated_with_condition MONDO:0012123 infores:clingen NCBIGene:8813 MONDO:0012123 Definitive 2023-10-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a4d2b7f-1de8-4f6c-8136-b62b62e1c226-2023-10-04T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:3931 biolink:gene_associated_with_condition MONDO:0009515 infores:ubergraph knowledge_assertion manual_agent HGNC:6522 MONDO:0009515 NCBIGene:54894 biolink:gene_associated_with_condition MONDO:0014919 infores:ubergraph knowledge_assertion manual_agent HGNC:18505 MONDO:0014919 NCBIGene:2622 biolink:gene_associated_with_condition MONDO:0014750 infores:clingen HGNC:4166 MONDO:0014750 Definitive 2024-11-08T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34bf201-5f6d-41c0-842d-5c029823ef60-2024-11-08T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:5663 biolink:gene_associated_with_condition MONDO:0013371 infores:ubergraph knowledge_assertion manual_agent HGNC:9508 MONDO:0013371 NCBIGene:1186 biolink:gene_associated_with_condition MONDO:0012676 infores:ubergraph knowledge_assertion manual_agent HGNC:2025 MONDO:0012676 NCBIGene:1457 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:1457 MONDO:0000508 Definitive 2022-06-15T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007e16ed-7392-4050-88b1-2b2158ca2a28-2022-06-15T060000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:100128927 biolink:gene_associated_with_condition MONDO:0014549 infores:ubergraph knowledge_assertion manual_agent HGNC:32550 MONDO:0014549 NCBIGene:3040 biolink:gene_associated_with_condition MONDO:0011399 infores:clingen NCBIGene:3040 MONDO:0011399 Definitive 2023-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab18a814-6fa8-4dc5-8448-9c2c196e24c7-2023-06-28T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2048 biolink:gene_associated_with_condition MONDO:0011361 infores:ubergraph knowledge_assertion manual_agent HGNC:3393 MONDO:0011361 NCBIGene:23543 biolink:gene_associated_with_condition MONDO:0100557 infores:ubergraph knowledge_assertion manual_agent HGNC:9906 MONDO:0100557 NCBIGene:5859 biolink:gene_associated_with_condition MONDO:0014335 infores:clingen HGNC:9751 MONDO:0014335 Definitive 2020-05-26T15:00:33.131Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b0cbc0e-c97c-4f6d-a351-0ac23a4ba8a5-2020-05-26T150033.131Z AR Autosomal Recessive 0000007 NCBIGene:90411 biolink:gene_associated_with_condition MONDO:0013331 infores:ubergraph knowledge_assertion manual_agent HGNC:18451 MONDO:0013331 NCBIGene:6872 biolink:gene_associated_with_condition MONDO:0010747 infores:ubergraph knowledge_assertion manual_agent HGNC:11535 MONDO:0010747 NCBIGene:4595 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:7527 MONDO:0016248 Disputed 2023-12-20T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2842036e-4a06-4d05-bce0-846f0f3c1678-2023-12-20T180000.000Z AR Autosomal Recessive 0000007 NCBIGene:1786 biolink:gene_associated_with_condition MONDO:0011397 infores:ubergraph knowledge_assertion manual_agent HGNC:2976 MONDO:0011397 NCBIGene:9455 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:17513 MONDO:0019497 Moderate 2020-08-31T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9158c2a6-f11b-47b4-ac7d-45471f7255a1-2020-08-31T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:84197 biolink:gene_associated_with_condition MONDO:0014489 infores:ubergraph knowledge_assertion manual_agent HGNC:26267 MONDO:0014489 NCBIGene:767 biolink:gene_associated_with_condition MONDO:0000437 infores:clingen HGNC:1382 MONDO:0000437 Moderate 2024-01-15T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0800c48-e3b1-4cb2-bbd1-4d649e506ebd-2024-01-15T230000.000Z AR Autosomal Recessive 0000007 NCBIGene:80270 biolink:gene_associated_with_condition MONDO:0011906 infores:clingen NCBIGene:80270 MONDO:0011906 Definitive 2022-07-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca1a2268-641c-422f-b065-8866af654d94-2022-07-11T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4552 biolink:gene_associated_with_condition MONDO:0009354 infores:clingen NCBIGene:4552 MONDO:0009354 Definitive 2021-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905575cf-cb80-4038-b82b-1de3ae1c469d-2021-07-02T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4539 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7460 MONDO:0044970 Limited 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_315cca07-6aef-4749-abf2-c0eba7d6c1c5-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:51 biolink:gene_associated_with_condition MONDO:0030073 infores:clingen HGNC:119 MONDO:0030073 Strong 2022-12-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2efeef00-0803-472b-8e25-080e4728c018-2022-12-29T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:6010 biolink:gene_associated_with_condition MONDO:0013395 infores:ubergraph knowledge_assertion manual_agent HGNC:10012 MONDO:0013395 NCBIGene:3730 biolink:gene_associated_with_condition MONDO:0010635 infores:ubergraph knowledge_assertion manual_agent HGNC:6211 MONDO:0010635 NCBIGene:1027 biolink:gene_associated_with_condition MONDO:0012552 infores:ubergraph knowledge_assertion manual_agent HGNC:1785 MONDO:0012552 NCBIGene:8720 biolink:gene_associated_with_condition MONDO:0032721 infores:ubergraph knowledge_assertion manual_agent HGNC:15456 MONDO:0032721 NCBIGene:487 biolink:gene_associated_with_condition MONDO:0010977 infores:clingen NCBIGene:487 MONDO:0010977 Gene associated with autosomal recessive phenotype 30 NCBIGene:1678 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1678 MONDO:0700096 No evidence available 0 true NCBIGene:2556 biolink:gene_associated_with_condition MONDO:0859564 infores:ubergraph knowledge_assertion manual_agent HGNC:4077 MONDO:0859564 NCBIGene:1956 biolink:gene_associated_with_condition MONDO:0005233 infores:clingen HGNC:3236 MONDO:0005233 Definitive 2020-07-30T20:22:07.418Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49342c73-96d7-45ba-9c90-d2d5e5710636-2020-07-30T202207.418Z AD Autosomal Dominant 0000006 NCBIGene:1674 biolink:gene_associated_with_condition MONDO:0016187 infores:ubergraph knowledge_assertion manual_agent HGNC:2770 MONDO:0016187 NCBIGene:2563 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4084 MONDO:0100038 Moderate 2023-07-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c112d0b-91a0-4ba3-b3d6-d36eadddd5ee-2023-07-18T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:23395 biolink:gene_associated_with_condition MONDO:0014869 infores:ubergraph knowledge_assertion manual_agent HGNC:17095 MONDO:0014869 NCBIGene:11222 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10379 MONDO:0044970 Moderate 2022-08-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2164ee6c-0956-4453-8d0a-afc21b691232-2022-08-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:27255 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:27255 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:90332 biolink:gene_associated_with_condition MONDO:0975799 infores:ubergraph knowledge_assertion manual_agent HGNC:30162 MONDO:0975799 NCBIGene:9378 biolink:gene_associated_with_condition MONDO:0013696 infores:ubergraph knowledge_assertion manual_agent HGNC:8008 MONDO:0013696 NCBIGene:1287 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1287 MONDO:0700096 No evidence available 0 true NCBIGene:7019 biolink:gene_associated_with_condition MONDO:0014943 infores:ubergraph knowledge_assertion manual_agent HGNC:11741 MONDO:0014943 NCBIGene:1301 biolink:gene_associated_with_condition MONDO:0007949 infores:ubergraph knowledge_assertion manual_agent HGNC:2186 MONDO:0007949 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0008974 infores:clingen NCBIGene:3930 MONDO:0008974 Moderate 2023-11-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41096010-f7fc-49a5-be97-a20fc73e7e33-2023-11-01T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:80781 biolink:gene_associated_with_condition MONDO:0030038 infores:ubergraph knowledge_assertion manual_agent HGNC:2195 MONDO:0030038 NCBIGene:3691 biolink:gene_associated_with_condition MONDO:0009183 infores:ubergraph knowledge_assertion manual_agent HGNC:6158 MONDO:0009183 NCBIGene:11107 biolink:gene_associated_with_condition MONDO:0013605 infores:ubergraph knowledge_assertion manual_agent HGNC:9349 MONDO:0013605 NCBIGene:22871 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:22871 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:8975 MONDO:0016419 Refuted 2023-12-21T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce3540a-5a7f-4f47-aeb3-520767016539-2023-12-21T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:375 biolink:gene_associated_with_condition MONDO:0020341 infores:clingen HGNC:652 MONDO:0020341 Definitive 2024-06-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b42038d-6fb1-40be-96c3-1e97eacd9092-2024-06-28T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7048 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:11773 MONDO:0019625 Definitive 2016-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8256 AD Autosomal Dominant 0000006 NCBIGene:3835 biolink:gene_associated_with_condition MONDO:0011335 infores:ubergraph knowledge_assertion manual_agent HGNC:6391 MONDO:0011335 NCBIGene:2099 biolink:gene_associated_with_condition MONDO:0014148 infores:ubergraph knowledge_assertion manual_agent HGNC:3467 MONDO:0014148 NCBIGene:5860 biolink:gene_associated_with_condition MONDO:0009862 infores:ubergraph knowledge_assertion manual_agent HGNC:9752 MONDO:0009862 NCBIGene:1297 biolink:gene_associated_with_condition MONDO:0013591 infores:ubergraph knowledge_assertion manual_agent HGNC:2217 MONDO:0013591 NCBIGene:4594 biolink:gene_associated_with_condition MONDO:0009612 infores:clingen NCBIGene:4594 MONDO:0009612 Definitive 2019-05-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c5301da-0dad-417a-8257-5b1c6155e8fa-2019-05-09T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:183 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:183 MONDO:0700096 No evidence available 0 true NCBIGene:6389 biolink:gene_associated_with_condition MONDO:0013339 infores:ubergraph knowledge_assertion manual_agent HGNC:10680 MONDO:0013339 NCBIGene:998 biolink:gene_associated_with_condition MONDO:0014757 infores:clingen HGNC:1736 MONDO:0014757 Definitive 2021-10-27T16:26:23.932Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95177a3a-0dca-4945-8a44-f63697739cef-2021-10-27T162623.932Z AD Autosomal Dominant 0000006 NCBIGene:871 biolink:gene_associated_with_condition MONDO:0012511 infores:ubergraph knowledge_assertion manual_agent HGNC:1546 MONDO:0012511 NCBIGene:6674 biolink:gene_associated_with_condition MONDO:0014216 infores:ubergraph knowledge_assertion manual_agent HGNC:11212 MONDO:0014216 NCBIGene:554 biolink:gene_associated_with_condition MONDO:0010581 infores:ubergraph knowledge_assertion manual_agent HGNC:897 MONDO:0010581 NCBIGene:8726 biolink:gene_associated_with_condition MONDO:0060510 infores:ubergraph knowledge_assertion manual_agent HGNC:3188 MONDO:0060510 NCBIGene:808 biolink:gene_associated_with_condition MONDO:0017990 infores:clingen HGNC:1449 MONDO:0017990 Moderate 2021-06-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b7fc965-a109-4448-94a0-00a9b078b484-2021-06-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1497 biolink:gene_associated_with_condition MONDO:0100151 infores:clingen NCBIGene:1497 MONDO:0100151 Gene associated with autosomal recessive phenotype 30 NCBIGene:4091 biolink:gene_associated_with_condition MONDO:0044315 infores:ubergraph knowledge_assertion manual_agent HGNC:6772 MONDO:0044315 NCBIGene:4858 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:7887 MONDO:0100038 Definitive 2024-05-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b8b1429-10a8-41b6-8ced-7b7bf73a7e8d-2024-05-15T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4542 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:7600 MONDO:0019497 Disputed 2024-10-31T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c422abbd-4f16-4da0-8569-d5d7138be488-2024-10-31T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4604 biolink:gene_associated_with_condition MONDO:0013965 infores:ubergraph knowledge_assertion manual_agent HGNC:7549 MONDO:0013965 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0007979 infores:clingen NCBIGene:5781 MONDO:0007979 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8772 biolink:gene_associated_with_condition MONDO:0013408 infores:ubergraph knowledge_assertion manual_agent HGNC:3573 MONDO:0013408 NCBIGene:116442 biolink:gene_associated_with_condition MONDO:0010289 infores:ubergraph knowledge_assertion manual_agent HGNC:16499 MONDO:0010289 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0014196 infores:ubergraph knowledge_assertion manual_agent HGNC:3688 MONDO:0014196 NCBIGene:6100 biolink:gene_associated_with_condition MONDO:0008378 infores:clingen HGNC:10288 MONDO:0008378 Limited 2025-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d204f15c-8ffe-4bd8-a47a-4969ba5cd3ba-2025-02-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:54795 biolink:gene_associated_with_condition MONDO:0032801 infores:ubergraph knowledge_assertion manual_agent HGNC:17993 MONDO:0032801 NCBIGene:23732 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:1362 MONDO:0100062 Definitive 2024-09-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_254975f0-b3ae-4838-909a-17db2e9faabc-2024-09-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:283987 biolink:gene_associated_with_condition MONDO:0031028 infores:ubergraph knowledge_assertion manual_agent HGNC:15736 MONDO:0031028 NCBIGene:3785 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3785 MONDO:0700096 No evidence available 0 true NCBIGene:2065 biolink:gene_associated_with_condition MONDO:8000011 infores:ubergraph knowledge_assertion manual_agent HGNC:3431 MONDO:8000011 NCBIGene:4726 biolink:gene_associated_with_condition MONDO:0100224 infores:clingen NCBIGene:4726 MONDO:0100224 Gene associated with autosomal recessive phenotype 30 NCBIGene:2671 biolink:gene_associated_with_condition MONDO:0013116 infores:ubergraph knowledge_assertion manual_agent HGNC:4236 MONDO:0013116 NCBIGene:2130 biolink:gene_associated_with_condition MONDO:0012817 infores:ubergraph knowledge_assertion manual_agent HGNC:3508 MONDO:0012817 NCBIGene:435 biolink:gene_associated_with_condition MONDO:0008815 infores:clingen HGNC:746 MONDO:0008815 Definitive 2018-09-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c16021b9-f6db-4e41-90f3-4786d63a1fa3-2018-09-15T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2304 biolink:gene_associated_with_condition MONDO:0009437 infores:ubergraph knowledge_assertion manual_agent HGNC:3806 MONDO:0009437 NCBIGene:5395 biolink:gene_associated_with_condition MONDO:0030843 infores:ubergraph knowledge_assertion manual_agent HGNC:9122 MONDO:0030843 NCBIGene:9992 biolink:gene_associated_with_condition MONDO:0012677 infores:ubergraph knowledge_assertion manual_agent HGNC:6242 MONDO:0012677 NCBIGene:84701 biolink:gene_associated_with_condition MONDO:0012992 infores:ubergraph knowledge_assertion manual_agent HGNC:16232 MONDO:0012992 NCBIGene:51490 biolink:gene_associated_with_condition MONDO:0976265 infores:ubergraph knowledge_assertion manual_agent HGNC:26933 MONDO:0976265 NCBIGene:57479 biolink:gene_associated_with_condition MONDO:0859193 infores:clingen NCBIGene:57479 MONDO:0859193 Definitive 2024-01-19T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d645c7ed-51f7-4695-a47d-ec3172ab3833-2024-01-19T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0013219 infores:clingen NCBIGene:5167 MONDO:0013219 Gene associated with autosomal recessive phenotype 30 NCBIGene:7003 biolink:gene_associated_with_condition MONDO:0007176 infores:ubergraph knowledge_assertion manual_agent HGNC:11714 MONDO:0007176 NCBIGene:83844 biolink:gene_associated_with_condition MONDO:0859478 infores:ubergraph knowledge_assertion manual_agent HGNC:13485 MONDO:0859478 NCBIGene:146059 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:146059 MONDO:0700096 No evidence available 0 true NCBIGene:169792 biolink:gene_associated_with_condition MONDO:0012436 infores:clingen NCBIGene:169792 MONDO:0012436 Gene associated with autosomal recessive phenotype 30 NCBIGene:6916 biolink:gene_associated_with_condition MONDO:0009274 infores:clingen HGNC:11609 MONDO:0009274 Moderate 2023-06-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_612c46e2-8b4f-4bff-9d8b-28769d8854e2-2023-06-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1106 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1106 MONDO:0700096 No evidence available 0 true NCBIGene:2683 biolink:gene_associated_with_condition MONDO:0957260 infores:ubergraph knowledge_assertion manual_agent HGNC:924 MONDO:0957260 NCBIGene:2683 biolink:gene_associated_with_condition MONDO:0011772 infores:clingen NCBIGene:2683 MONDO:0011772 Gene associated with autosomal recessive phenotype 30 NCBIGene:2752 biolink:gene_associated_with_condition MONDO:0970945 infores:ubergraph knowledge_assertion manual_agent HGNC:4341 MONDO:0970945 NCBIGene:1139 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1139 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:1749 biolink:gene_associated_with_condition MONDO:0009080 infores:clingen NCBIGene:1749 MONDO:0009080 true No evidence available 0 NCBIGene:28514 biolink:gene_associated_with_condition MONDO:0032877 infores:clingen NCBIGene:28514 MONDO:0032877 Definitive 2024-07-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83ba0dc3-95f6-4c50-8616-ea2d3eeb7456-2024-07-02T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:170692 biolink:gene_associated_with_condition MONDO:0014195 infores:clingen NCBIGene:170692 MONDO:0014195 Definitive 2022-03-02T21:24:47.170Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95caeabe-f92c-4884-87b4-ed97f15769f3-2022-03-02T212447.170Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0012062 infores:ubergraph knowledge_assertion manual_agent HGNC:60 MONDO:0012062 NCBIGene:6578 biolink:gene_associated_with_condition MONDO:0008172 infores:ubergraph knowledge_assertion manual_agent HGNC:10955 MONDO:0008172 NCBIGene:326625 biolink:gene_associated_with_condition MONDO:0009614 infores:clingen NCBIGene:326625 MONDO:0009614 Definitive 2022-07-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52b61ff5-afba-4ff7-adbc-51de6a837db7-2022-07-13T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:25930 biolink:gene_associated_with_condition MONDO:0030046 infores:ubergraph knowledge_assertion manual_agent HGNC:14406 MONDO:0030046 NCBIGene:4854 biolink:gene_associated_with_condition MONDO:0007537 infores:ubergraph knowledge_assertion manual_agent HGNC:7883 MONDO:0007537 NCBIGene:285 biolink:gene_associated_with_condition MONDO:0023662 infores:ubergraph knowledge_assertion manual_agent HGNC:485 MONDO:0023662 NCBIGene:56910 biolink:gene_associated_with_condition MONDO:0011930 infores:ubergraph knowledge_assertion manual_agent HGNC:18063 MONDO:0011930 NCBIGene:6095 biolink:gene_associated_with_condition MONDO:0060745 infores:ubergraph knowledge_assertion manual_agent HGNC:10258 MONDO:0060745 NCBIGene:8818 biolink:gene_associated_with_condition MONDO:0014023 infores:ubergraph knowledge_assertion manual_agent HGNC:3006 MONDO:0014023 NCBIGene:6507 biolink:gene_associated_with_condition MONDO:0012982 infores:clingen HGNC:10941 MONDO:0012982 Definitive 2020-10-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bcae41b-3438-4e82-8f29-83cca7f142f0-2020-10-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1476 biolink:gene_associated_with_condition MONDO:0009698 infores:ubergraph knowledge_assertion manual_agent HGNC:2482 MONDO:0009698 NCBIGene:375790 biolink:gene_associated_with_condition MONDO:0014052 infores:ubergraph knowledge_assertion manual_agent HGNC:329 MONDO:0014052 NCBIGene:1181 biolink:gene_associated_with_condition MONDO:0005027 infores:clingen HGNC:2020 MONDO:0005027 Refuted 2022-03-15T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba2a1616-b3d7-4762-a546-c838333db683-2022-03-15T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:2348 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2348 MONDO:0700096 No evidence available 0 true NCBIGene:1387 biolink:gene_associated_with_condition MONDO:0008393 infores:ubergraph knowledge_assertion manual_agent HGNC:2348 MONDO:0008393 NCBIGene:7453 biolink:gene_associated_with_condition MONDO:0060585 infores:ubergraph knowledge_assertion manual_agent HGNC:12729 MONDO:0060585 NCBIGene:8076 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:29673 MONDO:0019625 Moderate 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8264 AD Autosomal Dominant 0000006 NCBIGene:1540 biolink:gene_associated_with_condition MONDO:0030872 infores:clingen HGNC:2584 MONDO:0030872 Limited 2023-02-23T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e9998d4-d6e3-4bdc-8de6-038928edbb60-2023-02-23T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:114548 biolink:gene_associated_with_condition MONDO:0033261 infores:ubergraph knowledge_assertion manual_agent HGNC:16400 MONDO:0033261 NCBIGene:38 biolink:gene_associated_with_condition MONDO:0008760 infores:ubergraph knowledge_assertion manual_agent HGNC:93 MONDO:0008760 NCBIGene:4091 biolink:gene_associated_with_condition MONDO:0100183 infores:ubergraph knowledge_assertion manual_agent HGNC:6772 MONDO:0100183 NCBIGene:10613 biolink:gene_associated_with_condition MONDO:0014302 infores:clingen HGNC:16947 MONDO:0014302 Definitive 2025-06-18T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d668c62f-b002-4015-a629-ecbebed40e59-2025-06-18T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:6390 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:10681 MONDO:0044970 Definitive 2022-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53015cfb-c54a-4436-9ebd-79ae3fdbf613-2022-03-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5889 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5889 MONDO:0700096 No evidence available 0 true NCBIGene:2068 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2068 MONDO:0700096 Dosage sensitivity unlikely 40 true NCBIGene:6326 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:6326 MONDO:0100038 Definitive 2019-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a1b7361-5c9e-4803-844d-ad6606a0acdb-2019-05-07T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:7840 biolink:gene_associated_with_condition MONDO:0008763 infores:clingen NCBIGene:7840 MONDO:0008763 Definitive 2017-02-10T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_6238 AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51776 biolink:gene_associated_with_condition MONDO:0014816 infores:ubergraph knowledge_assertion manual_agent HGNC:17797 MONDO:0014816 NCBIGene:5149 biolink:gene_associated_with_condition MONDO:0012398 infores:ubergraph knowledge_assertion manual_agent HGNC:8790 MONDO:0012398 NCBIGene:3991 biolink:gene_associated_with_condition MONDO:0014431 infores:ubergraph knowledge_assertion manual_agent HGNC:6621 MONDO:0014431 NCBIGene:2301 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2301 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3852 biolink:gene_associated_with_condition MONDO:0030535 infores:ubergraph knowledge_assertion manual_agent HGNC:6442 MONDO:0030535 NCBIGene:427 biolink:gene_associated_with_condition MONDO:0100524 infores:ubergraph knowledge_assertion manual_agent HGNC:735 MONDO:0100524 NCBIGene:613 biolink:gene_associated_with_condition MONDO:0011996 infores:ubergraph knowledge_assertion manual_agent HGNC:1014 MONDO:0011996 NCBIGene:2703 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2703 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:51816 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51816 MONDO:0700096 No evidence available 0 true NCBIGene:84074 biolink:gene_associated_with_condition MONDO:0032686 infores:ubergraph knowledge_assertion manual_agent HGNC:25326 MONDO:0032686 NCBIGene:55084 biolink:gene_associated_with_condition MONDO:0013353 infores:ubergraph knowledge_assertion manual_agent HGNC:29256 MONDO:0013353 NCBIGene:282808 biolink:gene_associated_with_condition MONDO:0020119 infores:clingen HGNC:25410 MONDO:0020119 Refuted 2021-06-15T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_126405bb-ecf5-49a3-b7d5-bb1b45a65e26-2021-06-15T160000.000Z XL X-linked 0001417 NCBIGene:4256 biolink:gene_associated_with_condition MONDO:0009495 infores:clingen NCBIGene:4256 MONDO:0009495 Definitive 2025-05-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73a2971a-209d-4696-8459-3d8f3d0e2aa2-2025-05-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:146183 biolink:gene_associated_with_condition MONDO:0011762 infores:clingen NCBIGene:146183 MONDO:0011762 Gene associated with autosomal recessive phenotype 30 NCBIGene:25839 biolink:gene_associated_with_condition MONDO:0013281 infores:clingen NCBIGene:25839 MONDO:0013281 Moderate 2023-05-17T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c9f2031-7487-45a5-abbe-ca2d27f1b09c-2023-05-17T180000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:57570 biolink:gene_associated_with_condition MONDO:0014684 infores:ubergraph knowledge_assertion manual_agent HGNC:23141 MONDO:0014684 NCBIGene:79736 biolink:gene_associated_with_condition MONDO:0957537 infores:ubergraph knowledge_assertion manual_agent HGNC:26223 MONDO:0957537 NCBIGene:23324 biolink:gene_associated_with_condition MONDO:0976261 infores:ubergraph knowledge_assertion manual_agent HGNC:29623 MONDO:0976261 NCBIGene:1747 biolink:gene_associated_with_condition MONDO:0008592 infores:ubergraph knowledge_assertion manual_agent HGNC:2916 MONDO:0008592 NCBIGene:23400 biolink:gene_associated_with_condition MONDO:0011706 infores:clingen HGNC:30213 MONDO:0011706 Definitive 2022-04-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba5cb4f-3f7f-44dc-b2a5-0a2d62e510d4-2022-04-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9094 biolink:gene_associated_with_condition MONDO:0014226 infores:ubergraph knowledge_assertion manual_agent HGNC:12565 MONDO:0014226 NCBIGene:4576 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7499 MONDO:0044970 Moderate 2025-07-14T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99e85f3e-3c1f-4265-8b70-0870e95d4c30-2025-07-14T040000.000Z MT Mitochondrial 0001427 NCBIGene:9782 biolink:gene_associated_with_condition MONDO:0011632 infores:ubergraph knowledge_assertion manual_agent HGNC:6912 MONDO:0011632 NCBIGene:3158 biolink:gene_associated_with_condition MONDO:0011614 infores:ubergraph knowledge_assertion manual_agent HGNC:5008 MONDO:0011614 NCBIGene:2775 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2775 MONDO:0700096 No evidence available 0 true NCBIGene:146227 biolink:gene_associated_with_condition MONDO:0007296 infores:ubergraph knowledge_assertion manual_agent HGNC:24160 MONDO:0007296 NCBIGene:5130 biolink:gene_associated_with_condition MONDO:0012160 infores:clingen NCBIGene:5130 MONDO:0012160 Definitive 2021-07-26T18:37:11.748Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eff306ea-95ff-4b4e-8597-f50849b1b4c2-2021-07-26T183711.748Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6337 biolink:gene_associated_with_condition MONDO:0009917 infores:ubergraph knowledge_assertion manual_agent HGNC:10599 MONDO:0009917 NCBIGene:57017 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:25302 MONDO:0044970 Definitive 2024-01-29T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5bd50af5-d882-49e1-afd5-d68f253055d7-2024-01-29T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:4772 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:7775 MONDO:0005453 Disputed 2023-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8524125-b985-4fa5-bf8c-2cb6202964eb-2023-07-17T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5184 biolink:gene_associated_with_condition MONDO:0008221 infores:ubergraph knowledge_assertion manual_agent HGNC:8840 MONDO:0008221 NCBIGene:5173 biolink:gene_associated_with_condition MONDO:0012449 infores:ubergraph knowledge_assertion manual_agent HGNC:8820 MONDO:0012449 NCBIGene:5832 biolink:gene_associated_with_condition MONDO:0100126 infores:clingen HGNC:9722 MONDO:0100126 Definitive 2021-05-18T21:11:34.377Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bfbe962-beb3-4553-9909-a83a3aac2d55-2021-05-18T211134.377Z SD Semidominant 0032113 NCBIGene:9289 biolink:gene_associated_with_condition MONDO:0011738 infores:ubergraph knowledge_assertion manual_agent HGNC:4512 MONDO:0011738 NCBIGene:686 biolink:gene_associated_with_condition MONDO:0009665 infores:clingen NCBIGene:686 MONDO:0009665 Definitive 2020-02-10T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_847f7f2b-575f-4a90-bf02-179d464e4841-2020-02-10T180000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5921 biolink:gene_associated_with_condition MONDO:0020783 infores:clingen NCBIGene:5921 MONDO:0020783 Sufficient evidence for dosage pathogenicity 3 NCBIGene:79934 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:19041 MONDO:0044970 Definitive 2023-02-06T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43b1c614-38c9-4729-8661-eecc0d24a364-2023-02-06T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:6609 biolink:gene_associated_with_condition MONDO:0009756 infores:ubergraph knowledge_assertion manual_agent HGNC:11120 MONDO:0009756 NCBIGene:116442 biolink:gene_associated_with_condition MONDO:0010709 infores:clingen HGNC:16499 MONDO:0010709 Definitive 2018-06-04T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01dc73a8-fbd2-4081-95cd-ab7cb59236d7-2018-06-04T100000.000Z XL X-linked 0001417 NCBIGene:4487 biolink:gene_associated_with_condition MONDO:0007129 infores:ubergraph knowledge_assertion manual_agent HGNC:7391 MONDO:0007129 NCBIGene:5127 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen HGNC:8749 MONDO:0100148 Limited 2021-10-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93557c1a-c141-4833-bcbb-83fccbd7d761-2021-10-28T160000.000Z XL X-linked 0001417 NCBIGene:7139 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:11949 MONDO:0016587 No Known Disease Relationship 2019-07-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2bde3ff-f75f-40c3-a8fe-10a72e883b3c-2019-07-16T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84466 biolink:gene_associated_with_condition MONDO:0859515 infores:ubergraph knowledge_assertion manual_agent HGNC:29634 MONDO:0859515 NCBIGene:411 biolink:gene_associated_with_condition MONDO:0009661 infores:clingen HGNC:714 MONDO:0009661 Definitive 2022-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a850717-e21b-495d-8542-de4fdb142647-2022-04-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:55112 biolink:gene_associated_with_condition MONDO:0014214 infores:clingen NCBIGene:55112 MONDO:0014214 Definitive 2024-09-04T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad85ec94-69a9-4e67-a366-5ec2d574f1e4-2024-09-04T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:64327 biolink:gene_associated_with_condition MONDO:0008700 infores:clingen NCBIGene:64327 MONDO:0008700 Gene associated with autosomal recessive phenotype 30 NCBIGene:23230 biolink:gene_associated_with_condition MONDO:0008695 infores:clingen NCBIGene:23230 MONDO:0008695 Gene associated with autosomal recessive phenotype 30 NCBIGene:7443 biolink:gene_associated_with_condition MONDO:0957876 infores:ubergraph knowledge_assertion manual_agent HGNC:12718 MONDO:0957876 NCBIGene:2495 biolink:gene_associated_with_condition MONDO:0014225 infores:ubergraph knowledge_assertion manual_agent HGNC:3976 MONDO:0014225 NCBIGene:2744 biolink:gene_associated_with_condition MONDO:0032685 infores:ubergraph knowledge_assertion manual_agent HGNC:4331 MONDO:0032685 NCBIGene:6720 biolink:gene_associated_with_condition MONDO:0100221 infores:ubergraph knowledge_assertion manual_agent HGNC:11289 MONDO:0100221 NCBIGene:7111 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:11871 MONDO:0005021 Limited 2025-05-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbcee227-6a90-474b-ba94-7714bcf704d5-2025-05-02T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:10716 biolink:gene_associated_with_condition MONDO:0011627 infores:ubergraph knowledge_assertion manual_agent HGNC:11590 MONDO:0011627 NCBIGene:717 biolink:gene_associated_with_condition MONDO:0009006 infores:ubergraph knowledge_assertion manual_agent HGNC:1248 MONDO:0009006 NCBIGene:8565 biolink:gene_associated_with_condition MONDO:0030375 infores:ubergraph knowledge_assertion manual_agent HGNC:12840 MONDO:0030375 NCBIGene:5627 biolink:gene_associated_with_condition MONDO:0012868 infores:ubergraph knowledge_assertion manual_agent HGNC:9456 MONDO:0012868 NCBIGene:81693 biolink:gene_associated_with_condition MONDO:0100157 infores:ubergraph knowledge_assertion manual_agent HGNC:14604 MONDO:0100157 NCBIGene:9254 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:1400 MONDO:0100038 Moderate 2023-11-21T08:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aadbfa17-bd3f-4521-bb7f-c5ada786d05c-2023-11-21T080000.000Z AR Autosomal Recessive 0000007 NCBIGene:7293 biolink:gene_associated_with_condition MONDO:0014268 infores:clingen HGNC:11918 MONDO:0014268 Limited 2023-06-15T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4759ec3f-6876-41c4-a6eb-fdceedccbc60-2023-06-15T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:3596 biolink:gene_associated_with_condition MONDO:0100177 infores:ubergraph knowledge_assertion manual_agent HGNC:5973 MONDO:0100177 NCBIGene:92345 biolink:gene_associated_with_condition MONDO:0957261 infores:clingen HGNC:25126 MONDO:0957261 Definitive 2025-03-18T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40f2a012-9098-4d27-9080-655ff76a1827-2025-03-18T100000.000Z AD Autosomal Dominant 0000006 NCBIGene:9885 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:15761 MONDO:0019497 Moderate 2020-02-06T17:20:31.658Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a493a4c4-3a9f-431a-a68e-d90d9a11b6f0-2020-02-06T172031.658Z AD Autosomal Dominant 0000006 NCBIGene:990 biolink:gene_associated_with_condition MONDO:0013432 infores:clingen HGNC:1744 MONDO:0013432 Limited 2025-01-17T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05b74230-8c08-4dcf-af1a-903a2584baf4-2025-01-17T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:283989 biolink:gene_associated_with_condition MONDO:0012438 infores:ubergraph knowledge_assertion manual_agent HGNC:27561 MONDO:0012438 NCBIGene:90957 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:90957 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:3181 biolink:gene_associated_with_condition MONDO:0958195 infores:ubergraph knowledge_assertion manual_agent HGNC:5033 MONDO:0958195 NCBIGene:6812 biolink:gene_associated_with_condition MONDO:0012812 infores:clingen NCBIGene:6812 MONDO:0012812 Sufficient evidence for dosage pathogenicity 3 NCBIGene:64849 biolink:gene_associated_with_condition MONDO:0032716 infores:ubergraph knowledge_assertion manual_agent HGNC:14430 MONDO:0032716 HGNC:12029 biolink:gene_associated_with_condition MONDO:0014160 infores:clingen HGNC:12029 MONDO:0014160 Moderate 2025-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a49ea507-7acb-4bed-be28-140120adf9fe-2025-07-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:54756 biolink:gene_associated_with_condition MONDO:0014103 infores:ubergraph knowledge_assertion manual_agent HGNC:17616 MONDO:0014103 NCBIGene:53947 biolink:gene_associated_with_condition MONDO:0100587 infores:ubergraph knowledge_assertion manual_agent HGNC:18149 MONDO:0100587 NCBIGene:91942 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:91942 MONDO:0700096 No evidence available 0 true NCBIGene:6664 biolink:gene_associated_with_condition MONDO:0100626 infores:ubergraph knowledge_assertion manual_agent HGNC:11191 MONDO:0100626 NCBIGene:11146 biolink:gene_associated_with_condition MONDO:0007672 infores:ubergraph knowledge_assertion manual_agent HGNC:14373 MONDO:0007672 NCBIGene:3640 biolink:gene_associated_with_condition MONDO:0009047 infores:ubergraph knowledge_assertion manual_agent HGNC:6086 MONDO:0009047 NCBIGene:5589 biolink:gene_associated_with_condition MONDO:0008265 infores:clingen NCBIGene:5589 MONDO:0008265 Definitive 2020-07-08T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83607ef3-6ec2-4d63-991a-4aeb3f7c2a25-2020-07-08T040000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:7577 MONDO:0005045 Definitive 2023-07-12T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31325c90-05cb-4db0-9372-e4f705cd5c82-2023-07-12T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:8726 biolink:gene_associated_with_condition MONDO:0060510 infores:clingen HGNC:3188 MONDO:0060510 Moderate 2022-12-05T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44531e19-7957-424f-81e9-fc455095f14a-2022-12-05T230000.000Z AD Autosomal Dominant 0000006 NCBIGene:79876 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen HGNC:23230 MONDO:0100062 Definitive 2025-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f8260a1-2357-4caa-8c13-949e1ce4e190-2025-08-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:91624 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:29557 MONDO:0005021 Strong 2024-11-15T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffe00b43-a449-4476-b7e0-f24cf6613766-2024-11-15T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:7054 biolink:gene_associated_with_condition MONDO:0011551 infores:ubergraph knowledge_assertion manual_agent HGNC:11782 MONDO:0011551 NCBIGene:51645 biolink:gene_associated_with_condition MONDO:0030258 infores:ubergraph knowledge_assertion manual_agent HGNC:9260 MONDO:0030258 NCBIGene:54968 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:26050 MONDO:0044970 Definitive 2022-06-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5be60130-254d-4af4-aca0-eb8cd88a143c-2022-06-16T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:51660 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21606 MONDO:0044970 Definitive 2023-11-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de4dba62-51ef-4e0b-942a-a2175d3f9fb1-2023-11-20T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:79133 biolink:gene_associated_with_condition MONDO:0032621 infores:ubergraph knowledge_assertion manual_agent HGNC:15899 MONDO:0032621 NCBIGene:59335 biolink:gene_associated_with_condition MONDO:0014662 infores:ubergraph knowledge_assertion manual_agent HGNC:13997 MONDO:0014662 NCBIGene:224 biolink:gene_associated_with_condition MONDO:0010031 infores:ubergraph knowledge_assertion manual_agent HGNC:403 MONDO:0010031 NCBIGene:51300 biolink:gene_associated_with_condition MONDO:0032634 infores:ubergraph knowledge_assertion manual_agent HGNC:1321 MONDO:0032634 NCBIGene:50814 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:50814 MONDO:0700096 No evidence available 0 true NCBIGene:1674 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen HGNC:2770 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91b2595a-5eb9-4ac3-aa3d-d5f99cacad84-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:29072 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:29072 MONDO:0100038 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2690 biolink:gene_associated_with_condition MONDO:0009877 infores:ubergraph knowledge_assertion manual_agent HGNC:4263 MONDO:0009877 NCBIGene:81027 biolink:gene_associated_with_condition MONDO:0800047 infores:ubergraph knowledge_assertion manual_agent HGNC:16257 MONDO:0800047 NCBIGene:128240 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:18453 MONDO:0009723 Limited 2021-04-09T14:21:30.880Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a062b287-a561-4c3e-942a-3379dee307c8-2021-04-09T142130.880Z AR Autosomal Recessive 0000007 NCBIGene:65975 biolink:gene_associated_with_condition MONDO:0971000 infores:ubergraph knowledge_assertion manual_agent HGNC:14568 MONDO:0971000 NCBIGene:7010 biolink:gene_associated_with_condition MONDO:0010842 infores:ubergraph knowledge_assertion manual_agent HGNC:11724 MONDO:0010842 NCBIGene:6927 biolink:gene_associated_with_condition MONDO:0010894 infores:ubergraph knowledge_assertion manual_agent HGNC:11621 MONDO:0010894 NCBIGene:56623 biolink:gene_associated_with_condition MONDO:0012423 infores:clingen HGNC:21474 MONDO:0012423 Moderate 2023-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a50bbd87-4308-4272-83fc-21274d283e63-2023-05-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:9051 biolink:gene_associated_with_condition MONDO:0011174 infores:ubergraph knowledge_assertion manual_agent HGNC:9580 MONDO:0011174 NCBIGene:84676 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:16007 MONDO:0005045 Disputed 2022-10-27T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9f35d3c-2d30-4947-9d10-87d21405586e-2022-10-27T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:10653 biolink:gene_associated_with_condition MONDO:0010036 infores:ubergraph knowledge_assertion manual_agent HGNC:11247 MONDO:0010036 NCBIGene:1294 biolink:gene_associated_with_condition MONDO:0007557 infores:ubergraph knowledge_assertion manual_agent HGNC:2214 MONDO:0007557 NCBIGene:2566 biolink:gene_associated_with_condition MONDO:0011891 infores:ubergraph knowledge_assertion manual_agent HGNC:4087 MONDO:0011891 NCBIGene:57551 biolink:gene_associated_with_condition MONDO:0859199 infores:ubergraph knowledge_assertion manual_agent HGNC:29259 MONDO:0859199 NCBIGene:51660 biolink:gene_associated_with_condition MONDO:0013877 infores:ubergraph knowledge_assertion manual_agent HGNC:21606 MONDO:0013877 NCBIGene:51284 biolink:gene_associated_with_condition MONDO:0859083 infores:ubergraph knowledge_assertion manual_agent HGNC:15631 MONDO:0859083 NCBIGene:5795 biolink:gene_associated_with_condition MONDO:0957578 infores:clingen HGNC:9673 MONDO:0957578 Limited 2024-12-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40b80e00-6e72-405a-af07-f050dae7dac9-2024-12-18T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:593 biolink:gene_associated_with_condition MONDO:0023691 infores:clingen HGNC:986 MONDO:0023691 Definitive 2018-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c89a6c7-751a-4a99-8a32-97cc33c5df7c-2018-09-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:7545 biolink:gene_associated_with_condition MONDO:0014705 infores:clingen HGNC:12872 MONDO:0014705 Definitive 2024-01-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e70d90a2-6365-49ac-a21f-599ff5906d88-2024-01-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8912 biolink:gene_associated_with_condition MONDO:0014875 infores:ubergraph knowledge_assertion manual_agent HGNC:1395 MONDO:0014875 NCBIGene:401541 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:401541 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:9509 biolink:gene_associated_with_condition MONDO:0009161 infores:ubergraph knowledge_assertion manual_agent HGNC:218 MONDO:0009161 NCBIGene:383 biolink:gene_associated_with_condition MONDO:0008814 infores:clingen HGNC:663 MONDO:0008814 Definitive 2020-06-29T17:41:01.533Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0157f793-9232-4700-bbf0-dfb16270f688-2020-06-29T174101.533Z AR Autosomal Recessive 0000007 NCBIGene:58472 biolink:gene_associated_with_condition MONDO:0030982 infores:ubergraph knowledge_assertion manual_agent HGNC:20390 MONDO:0030982 NCBIGene:6812 biolink:gene_associated_with_condition MONDO:0012812 infores:ubergraph knowledge_assertion manual_agent HGNC:11444 MONDO:0012812 NCBIGene:23405 biolink:gene_associated_with_condition MONDO:0859046 infores:ubergraph knowledge_assertion manual_agent HGNC:17098 MONDO:0859046 NCBIGene:56947 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:24858 MONDO:0009723 Moderate 2021-04-09T14:18:36.756Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4484881f-277f-47a2-b1dd-70072ec941e0-2021-04-09T141836.756Z AR Autosomal Recessive 0000007 NCBIGene:9215 biolink:gene_associated_with_condition MONDO:0012138 infores:ubergraph knowledge_assertion manual_agent HGNC:6511 MONDO:0012138 NCBIGene:7234 biolink:gene_associated_with_condition MONDO:0859354 infores:ubergraph knowledge_assertion manual_agent HGNC:12348 MONDO:0859354 NCBIGene:83544 biolink:gene_associated_with_condition MONDO:0013525 infores:ubergraph knowledge_assertion manual_agent HGNC:23247 MONDO:0013525 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0011823 infores:ubergraph knowledge_assertion manual_agent HGNC:132 MONDO:0011823 NCBIGene:80025 biolink:gene_associated_with_condition MONDO:0011798 infores:ubergraph knowledge_assertion manual_agent HGNC:15894 MONDO:0011798 NCBIGene:1298 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1298 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:59336 biolink:gene_associated_with_condition MONDO:0030890 infores:ubergraph knowledge_assertion manual_agent HGNC:13998 MONDO:0030890 NCBIGene:3703 biolink:gene_associated_with_condition MONDO:0014270 infores:clingen NCBIGene:3703 MONDO:0014270 Moderate 2025-04-16T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baa0de31-7843-446e-a451-56cf0d879824-2025-04-16T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:4913 biolink:gene_associated_with_condition MONDO:0100502 infores:ubergraph knowledge_assertion manual_agent HGNC:8028 MONDO:0100502 NCBIGene:9688 biolink:gene_associated_with_condition MONDO:0014817 infores:clingen HGNC:28958 MONDO:0014817 Definitive 2022-07-26T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbef3f71-5ee5-434e-a14c-c05c1cc2569b-2022-07-26T060000.000Z AR Autosomal Recessive 0000007 NCBIGene:958 biolink:gene_associated_with_condition MONDO:0011735 infores:clingen HGNC:11919 MONDO:0011735 Definitive 2022-10-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_debbb2e7-89a7-45b8-b5e1-41ccb56a3423-2022-10-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:3767 biolink:gene_associated_with_condition MONDO:0030087 infores:ubergraph knowledge_assertion manual_agent HGNC:6257 MONDO:0030087 NCBIGene:3784 biolink:gene_associated_with_condition MONDO:0005045 infores:clingen HGNC:6294 MONDO:0005045 Disputed 2022-05-09T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b44eee3-56ea-4596-8d3e-e4d5c0ad8d60-2022-05-09T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5476 biolink:gene_associated_with_condition MONDO:0035551 infores:ubergraph knowledge_assertion manual_agent HGNC:9251 MONDO:0035551 NCBIGene:7132 biolink:gene_associated_with_condition MONDO:0013893 infores:ubergraph knowledge_assertion manual_agent HGNC:11916 MONDO:0013893 NCBIGene:79755 biolink:gene_associated_with_condition MONDO:0012446 infores:ubergraph knowledge_assertion manual_agent HGNC:25843 MONDO:0012446 NCBIGene:545 biolink:gene_associated_with_condition MONDO:0008869 infores:ubergraph knowledge_assertion manual_agent HGNC:882 MONDO:0008869 NCBIGene:18 biolink:gene_associated_with_condition MONDO:0013166 infores:ubergraph knowledge_assertion manual_agent HGNC:23 MONDO:0013166 NCBIGene:375611 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:9359 MONDO:0019497 Limited 2022-01-26T20:42:54.928Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f835f34-fe68-49a8-9399-bccebba540d4-2022-01-26T204254.928Z AR Autosomal Recessive 0000007 NCBIGene:257 biolink:gene_associated_with_condition MONDO:0007636 infores:ubergraph knowledge_assertion manual_agent HGNC:449 MONDO:0007636 NCBIGene:340024 biolink:gene_associated_with_condition MONDO:0009324 infores:clingen HGNC:27960 MONDO:0009324 Definitive 2020-05-07T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c34762-450b-4abd-8fe4-3f17ff700630-2020-05-07T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:29980 biolink:gene_associated_with_condition MONDO:0060533 infores:ubergraph knowledge_assertion manual_agent HGNC:2993 MONDO:0060533 NCBIGene:5156 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:8803 MONDO:0005453 Limited 2024-03-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40d874e-0c34-4ff6-8145-4b310a67a033-2024-03-11T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:4851 biolink:gene_associated_with_condition MONDO:0014459 infores:clingen NCBIGene:4851 MONDO:0014459 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3040 biolink:gene_associated_with_condition MONDO:0100562 infores:ubergraph knowledge_assertion manual_agent HGNC:4824 MONDO:0100562 NCBIGene:2235 biolink:gene_associated_with_condition MONDO:0008319 infores:ubergraph knowledge_assertion manual_agent HGNC:3647 MONDO:0008319 NCBIGene:5019 biolink:gene_associated_with_condition MONDO:0009492 infores:ubergraph knowledge_assertion manual_agent HGNC:8527 MONDO:0009492 NCBIGene:5058 biolink:gene_associated_with_condition MONDO:0032568 infores:ubergraph knowledge_assertion manual_agent HGNC:8590 MONDO:0032568 NCBIGene:7161 biolink:gene_associated_with_condition MONDO:0030346 infores:clingen HGNC:12003 MONDO:0030346 Strong 2023-09-14T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96b17463-2bd0-431c-a8df-0c1ac28a97ab-2023-09-14T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5781 biolink:gene_associated_with_condition MONDO:0007979 infores:ubergraph knowledge_assertion manual_agent HGNC:9644 MONDO:0007979 NCBIGene:55703 biolink:gene_associated_with_condition MONDO:0700277 infores:ubergraph knowledge_assertion manual_agent HGNC:30348 MONDO:0700277 NCBIGene:411 biolink:gene_associated_with_condition MONDO:0009661 infores:ubergraph knowledge_assertion manual_agent HGNC:714 MONDO:0009661 NCBIGene:1892 biolink:gene_associated_with_condition MONDO:0014563 infores:ubergraph knowledge_assertion manual_agent HGNC:3151 MONDO:0014563 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0013815 infores:ubergraph knowledge_assertion manual_agent HGNC:3689 MONDO:0013815 NCBIGene:1175 biolink:gene_associated_with_condition MONDO:0010926 infores:ubergraph knowledge_assertion manual_agent HGNC:565 MONDO:0010926 NCBIGene:11200 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:11200 MONDO:0700096 No evidence available 0 true NCBIGene:375298 biolink:gene_associated_with_condition MONDO:0800401 infores:clingen HGNC:21699 MONDO:0800401 Definitive 2022-09-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3003820-dc03-4eb1-921a-6eaee749fa9f-2022-09-01T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4628 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:4628 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:203286 biolink:gene_associated_with_condition MONDO:0014158 infores:ubergraph knowledge_assertion manual_agent HGNC:26724 MONDO:0014158 NCBIGene:1050 biolink:gene_associated_with_condition MONDO:0018874 infores:clingen NCBIGene:1050 MONDO:0018874 Definitive 2019-08-18T15:59:16.225Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4234367e-149b-4f13-9243-341396fb4ccf-2019-08-18T155916.225Z AD Autosomal Dominant 0000006 true No evidence available 0 NCBIGene:146167 biolink:gene_associated_with_condition MONDO:0012216 infores:clingen NCBIGene:146167 MONDO:0012216 Definitive 2023-02-10T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5eb4abb6-392a-4ded-9a3e-79aaea763377-2023-02-10T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:583 biolink:gene_associated_with_condition MONDO:1040048 infores:clingen HGNC:967 MONDO:1040048 Definitive 2024-03-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be74a060-cfb3-4180-a107-cfaf0e81bfa3-2024-03-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:79846 biolink:gene_associated_with_condition MONDO:0054728 infores:ubergraph knowledge_assertion manual_agent HGNC:26107 MONDO:0054728 NCBIGene:55135 biolink:gene_associated_with_condition MONDO:0013520 infores:clingen NCBIGene:55135 MONDO:0013520 Gene associated with autosomal recessive phenotype 30 NCBIGene:79809 biolink:gene_associated_with_condition MONDO:0013441 infores:ubergraph knowledge_assertion manual_agent HGNC:25660 MONDO:0013441 NCBIGene:84071 biolink:gene_associated_with_condition MONDO:0032748 infores:clingen HGNC:23045 MONDO:0032748 Definitive 2023-05-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef0ad23-4568-4ef7-94e9-557981bfbe6c-2023-05-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1482 biolink:gene_associated_with_condition MONDO:0800441 infores:ubergraph knowledge_assertion manual_agent HGNC:2488 MONDO:0800441 NCBIGene:326 biolink:gene_associated_with_condition MONDO:0009411 infores:ubergraph knowledge_assertion manual_agent HGNC:360 MONDO:0009411 NCBIGene:255758 biolink:gene_associated_with_condition MONDO:0054565 infores:ubergraph knowledge_assertion manual_agent HGNC:28482 MONDO:0054565 NCBIGene:146167 biolink:gene_associated_with_condition MONDO:0012216 infores:ubergraph knowledge_assertion manual_agent HGNC:32434 MONDO:0012216 NCBIGene:7043 biolink:gene_associated_with_condition MONDO:0019625 infores:clingen HGNC:11769 MONDO:0019625 Limited 2016-12-22T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8266 AD Autosomal Dominant 0000006 NCBIGene:51294 biolink:gene_associated_with_condition MONDO:0009625 infores:ubergraph knowledge_assertion manual_agent HGNC:8657 MONDO:0009625 NCBIGene:1375 biolink:gene_associated_with_condition MONDO:0037858 infores:clingen HGNC:2329 MONDO:0037858 No Known Disease Relationship 2021-01-25T19:49:46.827Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfcd80c7-d806-41cf-8c3a-7ba955919537-2021-01-25T194946.827Z UD Undetermined Mode of Inheritance NCBIGene:775 biolink:gene_associated_with_condition MONDO:0032756 infores:ubergraph knowledge_assertion manual_agent HGNC:1390 MONDO:0032756 NCBIGene:23126 biolink:gene_associated_with_condition MONDO:0014606 infores:clingen NCBIGene:23126 MONDO:0014606 Definitive 2020-03-08T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5742d94-0642-4598-9fbd-fd43a2c21559-2020-03-08T230000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:217 biolink:gene_associated_with_condition MONDO:0012454 infores:ubergraph knowledge_assertion manual_agent HGNC:404 MONDO:0012454 NCBIGene:54870 biolink:gene_associated_with_condition MONDO:0000508 infores:clingen NCBIGene:54870 MONDO:0000508 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4893 biolink:gene_associated_with_condition MONDO:0007893 infores:clingen HGNC:7989 MONDO:0007893 Limited 2018-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5622684-4367-4d90-b769-f7205ee1cac8-2018-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84162 biolink:gene_associated_with_condition MONDO:0060631 infores:ubergraph knowledge_assertion manual_agent HGNC:26953 MONDO:0060631 NCBIGene:8573 biolink:gene_associated_with_condition MONDO:0010417 infores:ubergraph knowledge_assertion manual_agent HGNC:1497 MONDO:0010417 NCBIGene:1286 biolink:gene_associated_with_condition MONDO:0018965 infores:clingen HGNC:2206 MONDO:0018965 Definitive 2021-08-24T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c235830a-a6f5-4cf6-b015-902da62f1b2e-2021-08-24T023000.000Z SD Semidominant 0032113 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4625 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:375 biolink:gene_associated_with_condition MONDO:0032588 infores:ubergraph knowledge_assertion manual_agent HGNC:652 MONDO:0032588 NCBIGene:10157 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10157 MONDO:0700096 No evidence available 0 true NCBIGene:2987 biolink:gene_associated_with_condition MONDO:0976132 infores:ubergraph knowledge_assertion manual_agent HGNC:4693 MONDO:0976132 NCBIGene:1804 biolink:gene_associated_with_condition MONDO:0013063 infores:ubergraph knowledge_assertion manual_agent HGNC:3010 MONDO:0013063 NCBIGene:10060 biolink:gene_associated_with_condition MONDO:0859224 infores:ubergraph knowledge_assertion manual_agent HGNC:60 MONDO:0859224 NCBIGene:11346 biolink:gene_associated_with_condition MONDO:0100313 infores:clingen HGNC:30672 MONDO:0100313 Limited 2023-11-13T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12a82f02-cc6b-41a0-b2b7-7d8c18ff470b-2023-11-13T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:4247 biolink:gene_associated_with_condition MONDO:0008908 infores:clingen HGNC:7045 MONDO:0008908 Moderate 2024-11-07T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1ff0e4d-0a54-48f3-855f-2bdb36d118db-2024-11-07T060000.000Z AR Autosomal Recessive 0000007 NCBIGene:53947 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:53947 MONDO:0700096 No evidence available 0 true Gene associated with autosomal recessive phenotype 30 NCBIGene:3183 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:3183 MONDO:0100038 true Little evidence for dosage pathogenicity 1 NCBIGene:2050 biolink:gene_associated_with_condition MONDO:0700080 infores:ubergraph knowledge_assertion manual_agent HGNC:3395 MONDO:0700080 NCBIGene:4705 biolink:gene_associated_with_condition MONDO:0032626 infores:ubergraph knowledge_assertion manual_agent HGNC:7684 MONDO:0032626 NCBIGene:249 biolink:gene_associated_with_condition MONDO:0100608 infores:clingen HGNC:438 MONDO:0100608 Definitive 2021-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_417cf2e3-52ab-4a2f-baf0-eb1baae622f8-2021-05-19T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:85300 biolink:gene_associated_with_condition MONDO:0011025 infores:clingen NCBIGene:85300 MONDO:0011025 Gene associated with autosomal recessive phenotype 30 NCBIGene:9380 biolink:gene_associated_with_condition MONDO:0009824 infores:ubergraph knowledge_assertion manual_agent HGNC:4570 MONDO:0009824 NCBIGene:140679 biolink:gene_associated_with_condition MONDO:0958324 infores:ubergraph knowledge_assertion manual_agent HGNC:11018 MONDO:0958324 NCBIGene:84131 biolink:gene_associated_with_condition MONDO:0020778 infores:clingen NCBIGene:84131 MONDO:0020778 Gene associated with autosomal recessive phenotype 30 NCBIGene:6900 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6900 MONDO:0700096 No evidence available 0 true NCBIGene:675 biolink:gene_associated_with_condition MONDO:0011584 infores:ubergraph knowledge_assertion manual_agent HGNC:1101 MONDO:0011584 NCBIGene:6469 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6469 MONDO:0700096 No evidence available 0 true NCBIGene:23474 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:23287 MONDO:0009723 Definitive 2019-04-08T16:17:59.443Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d29d908d-ea85-4eb4-a6a5-400c95511c9a-2019-04-08T161759.443Z AR Autosomal Recessive 0000007 NCBIGene:6948 biolink:gene_associated_with_condition MONDO:0010149 infores:clingen NCBIGene:6948 MONDO:0010149 Definitive 2025-08-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2336cc7-730e-4205-8b2b-f1e1acfbd1f3-2025-08-21T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2301 biolink:gene_associated_with_condition MONDO:0012456 infores:ubergraph knowledge_assertion manual_agent HGNC:3808 MONDO:0012456 NCBIGene:287 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:287 MONDO:0100038 Definitive 2020-10-21T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_097e646b-467f-4c08-95d6-958ed324562b-2020-10-21T100000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6472 biolink:gene_associated_with_condition MONDO:0030866 infores:ubergraph knowledge_assertion manual_agent HGNC:10852 MONDO:0030866 NCBIGene:440275 biolink:gene_associated_with_condition MONDO:0018554 infores:clingen HGNC:19687 MONDO:0018554 Definitive 2022-12-02T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d20386c-ad1a-4c88-9f43-4ca3cedbfd6f-2022-12-02T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:5307 biolink:gene_associated_with_condition MONDO:0007342 infores:ubergraph knowledge_assertion manual_agent HGNC:9004 MONDO:0007342 NCBIGene:4695 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:7685 MONDO:0009723 Moderate 2019-05-20T19:06:23.871Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f40eb04-1cc3-477c-ab0a-c8162958fd4f-2019-05-20T190623.871Z AR Autosomal Recessive 0000007 NCBIGene:25790 biolink:gene_associated_with_condition MONDO:0030475 infores:ubergraph knowledge_assertion manual_agent HGNC:17229 MONDO:0030475 NCBIGene:6050 biolink:gene_associated_with_condition MONDO:0957561 infores:ubergraph knowledge_assertion manual_agent HGNC:10074 MONDO:0957561 NCBIGene:5236 biolink:gene_associated_with_condition MONDO:0013968 infores:clingen NCBIGene:5236 MONDO:0013968 Definitive 2023-08-02T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ae8da5f-7a0b-45f5-b60e-20af39cc41c1-2023-08-02T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6654 biolink:gene_associated_with_condition MONDO:0007609 infores:ubergraph knowledge_assertion manual_agent HGNC:11187 MONDO:0007609 NCBIGene:65055 biolink:gene_associated_with_condition MONDO:0859279 infores:ubergraph knowledge_assertion manual_agent HGNC:25786 MONDO:0859279 NCBIGene:9829 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9829 MONDO:0700096 No evidence available 0 true NCBIGene:538 biolink:gene_associated_with_condition MONDO:0010338 infores:ubergraph knowledge_assertion manual_agent HGNC:869 MONDO:0010338 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0013567 infores:ubergraph knowledge_assertion manual_agent HGNC:7576 MONDO:0013567 NCBIGene:147138 biolink:gene_associated_with_condition MONDO:0032614 infores:ubergraph knowledge_assertion manual_agent HGNC:20474 MONDO:0032614 NCBIGene:134218 biolink:gene_associated_with_condition MONDO:0014887 infores:ubergraph knowledge_assertion manual_agent HGNC:27030 MONDO:0014887 NCBIGene:2050 biolink:gene_associated_with_condition MONDO:0700080 infores:clingen HGNC:3395 MONDO:0700080 Definitive 2022-11-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1a3438a-72a7-41f7-b140-2041ea7a39c1-2022-11-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:1832 biolink:gene_associated_with_condition MONDO:0011581 infores:clingen HGNC:3052 MONDO:0011581 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23da580-269c-4e5d-8f13-91dbe7ea6a57-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2707 biolink:gene_associated_with_condition MONDO:0033010 infores:ubergraph knowledge_assertion manual_agent HGNC:4285 MONDO:0033010 NCBIGene:3930 biolink:gene_associated_with_condition MONDO:0018663 infores:ubergraph knowledge_assertion manual_agent HGNC:6518 MONDO:0018663 NCBIGene:2330 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3773 MONDO:0005453 Disputed 2023-11-27T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db8f477a-e653-4f3f-be67-c804228380f7-2023-11-27T050000.000Z AD Autosomal Dominant 0000006 NCBIGene:9821 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9821 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:4486 biolink:gene_associated_with_condition MONDO:0014902 infores:ubergraph knowledge_assertion manual_agent HGNC:7381 MONDO:0014902 NCBIGene:55610 biolink:gene_associated_with_condition MONDO:0859216 infores:ubergraph knowledge_assertion manual_agent HGNC:25956 MONDO:0859216 NCBIGene:3932 biolink:gene_associated_with_condition MONDO:0014334 infores:clingen HGNC:6524 MONDO:0014334 Definitive 2025-07-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e301c04-c0a1-4e0f-a9e4-69a6bd4be915-2025-07-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4607 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:7551 MONDO:0005453 Limited 2024-07-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cbe41f1-7421-4efe-ac33-6ff3fa530b43-2024-07-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:208 biolink:gene_associated_with_condition MONDO:0009416 infores:ubergraph knowledge_assertion manual_agent HGNC:392 MONDO:0009416 NCBIGene:4867 biolink:gene_associated_with_condition MONDO:0009728 infores:clingen HGNC:7905 MONDO:0009728 Definitive 2021-01-27T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abc69434-e9e6-4a2b-96b6-b7186f40021f-2021-01-27T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2160 biolink:gene_associated_with_condition MONDO:0012897 infores:clingen HGNC:3529 MONDO:0012897 Definitive 2019-10-23T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a57ba9d9-45c5-48bc-b939-7593f67a86ed-2019-10-23T160000.000Z SD Semidominant 0032113 NCBIGene:1756 biolink:gene_associated_with_condition MONDO:0010679 infores:clingen NCBIGene:1756 MONDO:0010679 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8651 biolink:gene_associated_with_condition MONDO:0800130 infores:clingen HGNC:19383 MONDO:0800130 Definitive 2025-02-18T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68f51e4f-ce10-493b-949a-29eda10e4ccb-2025-02-18T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:8195 biolink:gene_associated_with_condition MONDO:0015229 infores:clingen NCBIGene:8195 MONDO:0015229 Gene associated with autosomal recessive phenotype 30 NCBIGene:2335 biolink:gene_associated_with_condition MONDO:0011165 infores:ubergraph knowledge_assertion manual_agent HGNC:3778 MONDO:0011165 NCBIGene:6690 biolink:gene_associated_with_condition MONDO:0008185 infores:clingen NCBIGene:6690 MONDO:0008185 Sufficient evidence for dosage pathogenicity 3 NCBIGene:6648 biolink:gene_associated_with_condition MONDO:0012970 infores:ubergraph knowledge_assertion manual_agent HGNC:11180 MONDO:0012970 NCBIGene:118924 biolink:gene_associated_with_condition MONDO:0859312 infores:ubergraph knowledge_assertion manual_agent HGNC:1162 MONDO:0859312 NCBIGene:57020 biolink:gene_associated_with_condition MONDO:0030864 infores:ubergraph knowledge_assertion manual_agent HGNC:24641 MONDO:0030864 NCBIGene:1340 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1340 MONDO:0700096 No evidence available 0 true NCBIGene:2176 biolink:gene_associated_with_condition MONDO:0009213 infores:ubergraph knowledge_assertion manual_agent HGNC:3584 MONDO:0009213 NCBIGene:3674 biolink:gene_associated_with_condition MONDO:0008552 infores:ubergraph knowledge_assertion manual_agent HGNC:6138 MONDO:0008552 NCBIGene:162 biolink:gene_associated_with_condition MONDO:0009440 infores:ubergraph knowledge_assertion manual_agent HGNC:554 MONDO:0009440 NCBIGene:1471 biolink:gene_associated_with_condition MONDO:0012767 infores:ubergraph knowledge_assertion manual_agent HGNC:2475 MONDO:0012767 NCBIGene:51475 biolink:gene_associated_with_condition MONDO:0013963 infores:ubergraph knowledge_assertion manual_agent HGNC:1385 MONDO:0013963 NCBIGene:26005 biolink:gene_associated_with_condition MONDO:0014413 infores:clingen HGNC:24564 MONDO:0014413 Definitive 2023-05-24T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca993ab8-029f-46f6-9fc5-ffc1f54cb120-2023-05-24T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:64388 biolink:gene_associated_with_condition MONDO:0014999 infores:ubergraph knowledge_assertion manual_agent HGNC:17655 MONDO:0014999 NCBIGene:2218 biolink:gene_associated_with_condition MONDO:0700067 infores:clingen HGNC:3622 MONDO:0700067 Definitive 2024-08-13T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54e23f1a-3b1b-49ef-aa02-6b46374b1546-2024-08-13T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:81603 biolink:gene_associated_with_condition MONDO:0100111 infores:ubergraph knowledge_assertion manual_agent HGNC:15579 MONDO:0100111 NCBIGene:2312 biolink:gene_associated_with_condition MONDO:0011596 infores:ubergraph knowledge_assertion manual_agent HGNC:3748 MONDO:0011596 NCBIGene:1837 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:3057 MONDO:0005453 Disputed 2024-02-06T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd37e3a0-bb02-4450-86c5-46e9c64d1d39-2024-02-06T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:4780 biolink:gene_associated_with_condition MONDO:0060591 infores:ubergraph knowledge_assertion manual_agent HGNC:7782 MONDO:0060591 NCBIGene:1161 biolink:gene_associated_with_condition MONDO:0019569 infores:clingen NCBIGene:1161 MONDO:0019569 Definitive 2022-08-12T10:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abb43bf9-5d0c-4753-8230-6bd97805a8bc-2022-08-12T100000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:51317 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51317 MONDO:0700096 No evidence available 0 true NCBIGene:1650 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1650 MONDO:0700096 No evidence available 0 true NCBIGene:4512 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7419 MONDO:0044970 Definitive 2023-06-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e87f1ffb-3657-4f88-92e0-20936346c207-2023-06-05T160000.000Z MT Mitochondrial 0001427 NCBIGene:6794 biolink:gene_associated_with_condition MONDO:0016248 infores:clingen HGNC:11389 MONDO:0016248 No Known Disease Relationship 2016-10-26T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8708 AD Autosomal Dominant 0000006 NCBIGene:2138 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2138 MONDO:0700096 No evidence available 0 true NCBIGene:83715 biolink:gene_associated_with_condition MONDO:0012170 infores:ubergraph knowledge_assertion manual_agent HGNC:13281 MONDO:0012170 NCBIGene:6523 biolink:gene_associated_with_condition MONDO:0011731 infores:ubergraph knowledge_assertion manual_agent HGNC:11036 MONDO:0011731 NCBIGene:11133 biolink:gene_associated_with_condition MONDO:0014289 infores:ubergraph knowledge_assertion manual_agent HGNC:6404 MONDO:0014289 NCBIGene:9152 biolink:gene_associated_with_condition MONDO:0013827 infores:ubergraph knowledge_assertion manual_agent HGNC:11051 MONDO:0013827 NCBIGene:54970 biolink:gene_associated_with_condition MONDO:0032924 infores:clingen HGNC:23700 MONDO:0032924 Definitive 2025-05-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ff366d1-58ff-44dd-b7c3-799d1fe250c6-2025-05-08T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1181 biolink:gene_associated_with_condition MONDO:0011875 infores:ubergraph knowledge_assertion manual_agent HGNC:2020 MONDO:0011875 NCBIGene:6135 biolink:gene_associated_with_condition MONDO:0012938 infores:ubergraph knowledge_assertion manual_agent HGNC:10301 MONDO:0012938 NCBIGene:158 biolink:gene_associated_with_condition MONDO:0007068 infores:ubergraph knowledge_assertion manual_agent HGNC:291 MONDO:0007068 NCBIGene:10312 biolink:gene_associated_with_condition MONDO:0009815 infores:clingen NCBIGene:10312 MONDO:0009815 Definitive 2023-09-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac31a88-733f-4783-bfb7-8eecba7a70f1-2023-09-28T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:2257 biolink:gene_associated_with_condition MONDO:0100062 infores:clingen NCBIGene:2257 MONDO:0100062 Definitive 2023-11-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54324da6-e7c7-4ad2-a669-d8ccd1a6b71a-2023-11-01T160000.000Z AD Autosomal Dominant 0000006 Little evidence for dosage pathogenicity 1 true NCBIGene:27241 biolink:gene_associated_with_condition MONDO:0700236 infores:clingen HGNC:30000 MONDO:0700236 Definitive 2023-08-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fc68f9f-ed7c-453e-8c41-179a9ccad0ca-2023-08-03T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:1641 biolink:gene_associated_with_condition MONDO:0010239 infores:ubergraph knowledge_assertion manual_agent HGNC:2714 MONDO:0010239 NCBIGene:10943 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10943 MONDO:0700096 No evidence available 0 true NCBIGene:55764 biolink:gene_associated_with_condition MONDO:0021093 infores:ubergraph knowledge_assertion manual_agent HGNC:13556 MONDO:0021093 NCBIGene:284184 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:33551 MONDO:0009723 Moderate 2021-04-01T19:58:56.777Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3459bec0-88a8-463b-a135-54670357137a-2021-04-01T195856.777Z AR Autosomal Recessive 0000007 NCBIGene:37 biolink:gene_associated_with_condition MONDO:0008723 infores:ubergraph knowledge_assertion manual_agent HGNC:92 MONDO:0008723 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6513 MONDO:0700096 No evidence available 0 true NCBIGene:23600 biolink:gene_associated_with_condition MONDO:0013681 infores:clingen HGNC:451 MONDO:0013681 Moderate 2022-03-31T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fb8a3ea-cf06-4788-841f-e787f3780a49-2022-03-31T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:5538 biolink:gene_associated_with_condition MONDO:0016295 infores:clingen HGNC:9325 MONDO:0016295 Definitive 2024-06-10T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae7ebc05-9401-4932-afe2-a80e0d31e12f-2024-06-10T190000.000Z AR Autosomal Recessive 0000007 NCBIGene:124997 biolink:gene_associated_with_condition MONDO:0054794 infores:ubergraph knowledge_assertion manual_agent HGNC:26600 MONDO:0054794 NCBIGene:55280 biolink:gene_associated_with_condition MONDO:0014503 infores:ubergraph knowledge_assertion manual_agent HGNC:25613 MONDO:0014503 NCBIGene:8642 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:8642 MONDO:0700096 No evidence available 0 true Little evidence for dosage pathogenicity 1 NCBIGene:6884 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6884 MONDO:0700096 No evidence available 0 true NCBIGene:27249 biolink:gene_associated_with_condition MONDO:0010185 infores:ubergraph knowledge_assertion manual_agent HGNC:25221 MONDO:0010185 NCBIGene:23129 biolink:gene_associated_with_condition MONDO:0859532 infores:ubergraph knowledge_assertion manual_agent HGNC:9107 MONDO:0859532 NCBIGene:84265 biolink:gene_associated_with_condition MONDO:0030992 infores:ubergraph knowledge_assertion manual_agent HGNC:28466 MONDO:0030992 NCBIGene:22931 biolink:gene_associated_with_condition MONDO:0016649 infores:clingen HGNC:14244 MONDO:0016649 Moderate 2023-09-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f09a474-8789-4f05-8f7e-611698d30936-2023-09-30T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:5648 biolink:gene_associated_with_condition MONDO:0009770 infores:ubergraph knowledge_assertion manual_agent HGNC:6901 MONDO:0009770 NCBIGene:9203 biolink:gene_associated_with_condition MONDO:0957496 infores:ubergraph knowledge_assertion manual_agent HGNC:13054 MONDO:0957496 NCBIGene:5224 biolink:gene_associated_with_condition MONDO:0009865 infores:ubergraph knowledge_assertion manual_agent HGNC:8889 MONDO:0009865 NCBIGene:6662 biolink:gene_associated_with_condition MONDO:0007251 infores:clingen NCBIGene:6662 MONDO:0007251 Definitive 2020-06-01T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca6e2118-28d5-4a6f-8333-ee30994d41cd-2020-06-01T170000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:29110 biolink:gene_associated_with_condition MONDO:0054754 infores:ubergraph knowledge_assertion manual_agent HGNC:11584 MONDO:0054754 NCBIGene:60 biolink:gene_associated_with_condition MONDO:0100433 infores:clingen HGNC:132 MONDO:0100433 Moderate 2024-06-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cee7fd2-09f7-41dc-9742-542917d856b0-2024-06-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:92667 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:16205 MONDO:0044970 Definitive 2023-08-07T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15cc7c6b-dcdc-4289-a1c2-b4fad44c2f82-2023-08-07T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:6331 biolink:gene_associated_with_condition MONDO:0016587 infores:clingen HGNC:10593 MONDO:0016587 Limited 2019-06-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c1cdce2-c8de-442d-b0c4-5936919b310f-2019-06-06T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:7476 biolink:gene_associated_with_condition MONDO:0009232 infores:ubergraph knowledge_assertion manual_agent HGNC:12786 MONDO:0009232 NCBIGene:26585 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:26585 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:147409 biolink:gene_associated_with_condition MONDO:0011932 infores:clingen NCBIGene:147409 MONDO:0011932 Gene associated with autosomal recessive phenotype 30 NCBIGene:2645 biolink:gene_associated_with_condition MONDO:0100165 infores:ubergraph knowledge_assertion manual_agent HGNC:4195 MONDO:0100165 NCBIGene:54551 biolink:gene_associated_with_condition MONDO:0014243 infores:clingen NCBIGene:54551 MONDO:0014243 Definitive 2021-06-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa89f10b-6ccf-4c69-aef3-fc2f6c8e6ea9-2021-06-01T160000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:23389 biolink:gene_associated_with_condition MONDO:0014773 infores:ubergraph knowledge_assertion manual_agent HGNC:22962 MONDO:0014773 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0011694 infores:ubergraph knowledge_assertion manual_agent HGNC:6180 MONDO:0011694 NCBIGene:161582 biolink:gene_associated_with_condition MONDO:0007487 infores:ubergraph knowledge_assertion manual_agent HGNC:21493 MONDO:0007487 NCBIGene:2911 biolink:gene_associated_with_condition MONDO:0033479 infores:ubergraph knowledge_assertion manual_agent HGNC:4593 MONDO:0033479 NCBIGene:158 biolink:gene_associated_with_condition MONDO:0007068 infores:clingen NCBIGene:158 MONDO:0007068 Definitive 2020-09-06T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d282f565-84e4-4a47-9acc-77ee31bbe9f6-2020-09-06T220000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:6531 biolink:gene_associated_with_condition MONDO:0700117 infores:clingen HGNC:11049 MONDO:0700117 Definitive 2023-01-09T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb7a8001-1bc9-4cdf-bb99-1979737bda79-2023-01-09T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7280 biolink:gene_associated_with_condition MONDO:0700044 infores:ubergraph knowledge_assertion manual_agent HGNC:12412 MONDO:0700044 NCBIGene:51098 biolink:gene_associated_with_condition MONDO:0014915 infores:ubergraph knowledge_assertion manual_agent HGNC:15901 MONDO:0014915 NCBIGene:117581 biolink:gene_associated_with_condition MONDO:0009203 infores:ubergraph knowledge_assertion manual_agent HGNC:20670 MONDO:0009203 NCBIGene:10681 biolink:gene_associated_with_condition MONDO:0014957 infores:ubergraph knowledge_assertion manual_agent HGNC:4401 MONDO:0014957 NCBIGene:25821 biolink:gene_associated_with_condition MONDO:0013865 infores:ubergraph knowledge_assertion manual_agent HGNC:19261 MONDO:0013865 NCBIGene:5162 biolink:gene_associated_with_condition MONDO:0013580 infores:ubergraph knowledge_assertion manual_agent HGNC:8808 MONDO:0013580 NCBIGene:285489 biolink:gene_associated_with_condition MONDO:0009690 infores:clingen NCBIGene:285489 MONDO:0009690 Definitive 2025-02-24T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b40a6c0a-1152-4d29-8ba3-1136600085b9-2025-02-24T050000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:23524 biolink:gene_associated_with_condition MONDO:0957397 infores:ubergraph knowledge_assertion manual_agent HGNC:16639 MONDO:0957397 NCBIGene:10984 biolink:gene_associated_with_condition MONDO:0008394 infores:clingen NCBIGene:10984 MONDO:0008394 true Little evidence for dosage pathogenicity 1 NCBIGene:7547 biolink:gene_associated_with_condition MONDO:0010752 infores:ubergraph knowledge_assertion manual_agent HGNC:12874 MONDO:0010752 NCBIGene:3746 biolink:gene_associated_with_condition MONDO:0014521 infores:ubergraph knowledge_assertion manual_agent HGNC:6233 MONDO:0014521 NCBIGene:4567 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7490 MONDO:0044970 Definitive 2023-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_555b9573-762e-4c6a-904e-f2227c916bc4-2023-04-17T160000.000Z MT Mitochondrial 0001427 NCBIGene:6742 biolink:gene_associated_with_condition MONDO:0008135 infores:ubergraph knowledge_assertion manual_agent HGNC:11317 MONDO:0008135 NCBIGene:2737 biolink:gene_associated_with_condition MONDO:0008287 infores:clingen NCBIGene:2737 MONDO:0008287 Sufficient evidence for dosage pathogenicity 3 NCBIGene:51360 biolink:gene_associated_with_condition MONDO:0010486 infores:ubergraph knowledge_assertion manual_agent HGNC:15455 MONDO:0010486 NCBIGene:2512 biolink:gene_associated_with_condition MONDO:0010952 infores:ubergraph knowledge_assertion manual_agent HGNC:3999 MONDO:0010952 NCBIGene:7299 biolink:gene_associated_with_condition MONDO:0018135 infores:clingen HGNC:12442 MONDO:0018135 Definitive 2020-08-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9b52af2-1674-4f3d-9d7f-398a5f7f6875-2020-08-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:78987 biolink:gene_associated_with_condition MONDO:0005453 infores:clingen HGNC:14630 MONDO:0005453 Limited 2023-09-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aa67af6-c8df-4151-98ab-049b69fefd08-2023-09-05T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:3889 biolink:gene_associated_with_condition MONDO:0700342 infores:ubergraph knowledge_assertion manual_agent HGNC:6460 MONDO:0700342 NCBIGene:6853 biolink:gene_associated_with_condition MONDO:0100148 infores:clingen NCBIGene:6853 MONDO:0100148 Definitive 2023-04-05T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca5a3e64-5daa-4a2f-876d-4e7648c53ff8-2023-04-05T180000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:59341 biolink:gene_associated_with_condition MONDO:0010839 infores:ubergraph knowledge_assertion manual_agent HGNC:18083 MONDO:0010839 NCBIGene:2334 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2334 MONDO:0700096 No evidence available 0 true NCBIGene:2073 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2073 MONDO:0700096 Dosage sensitivity unlikely 40 true NCBIGene:84231 biolink:gene_associated_with_condition MONDO:0800439 infores:clingen HGNC:20456 MONDO:0800439 Definitive 2023-09-06T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6291da3-f236-4abe-ba39-ed00366e894a-2023-09-06T190000.000Z AD Autosomal Dominant 0000006 NCBIGene:139212 biolink:gene_associated_with_condition MONDO:0010517 infores:clingen HGNC:28570 MONDO:0010517 Definitive 2024-08-17T19:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5de9de15-2c09-48f5-bcaf-08c42b97700e-2024-08-17T190000.000Z XL X-linked 0001417 NCBIGene:6657 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6657 MONDO:0700096 No evidence available 0 true NCBIGene:6843 biolink:gene_associated_with_condition MONDO:0032675 infores:ubergraph knowledge_assertion manual_agent HGNC:12642 MONDO:0032675 NCBIGene:2020 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:3343 MONDO:0100038 Disputed 2021-02-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91eb2fc6-864c-4a4a-9b2d-0b2bdd695999-2021-02-16T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:2200 biolink:gene_associated_with_condition MONDO:0008492 infores:ubergraph knowledge_assertion manual_agent HGNC:3603 MONDO:0008492 NCBIGene:199857 biolink:gene_associated_with_condition MONDO:0015286 infores:clingen HGNC:28287 MONDO:0015286 Limited 2024-02-21T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_809c40c4-1800-42ef-b56f-95a2c61f44ce-2024-02-21T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:2688 biolink:gene_associated_with_condition MONDO:0013006 infores:ubergraph knowledge_assertion manual_agent HGNC:4261 MONDO:0013006 NCBIGene:5313 biolink:gene_associated_with_condition MONDO:0007067 infores:ubergraph knowledge_assertion manual_agent HGNC:9020 MONDO:0007067 NCBIGene:3758 biolink:gene_associated_with_condition MONDO:0009424 infores:ubergraph knowledge_assertion manual_agent HGNC:6255 MONDO:0009424 NCBIGene:6774 biolink:gene_associated_with_condition MONDO:0007818 infores:ubergraph knowledge_assertion manual_agent HGNC:11364 MONDO:0007818 NCBIGene:2332 biolink:gene_associated_with_condition MONDO:0010383 infores:ubergraph knowledge_assertion manual_agent HGNC:3775 MONDO:0010383 NCBIGene:999 biolink:gene_associated_with_condition MONDO:0054740 infores:ubergraph knowledge_assertion manual_agent HGNC:1748 MONDO:0054740 NCBIGene:9739 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9739 MONDO:0700096 No evidence available 0 true NCBIGene:538 biolink:gene_associated_with_condition MONDO:0010651 infores:clingen NCBIGene:538 MONDO:0010651 Definitive 2018-02-07T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bc50734-316b-47db-ba10-61f3fde46cca-2018-02-07T110000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:93627 biolink:gene_associated_with_condition MONDO:0014823 infores:ubergraph knowledge_assertion manual_agent HGNC:28261 MONDO:0014823 NCBIGene:285195 biolink:gene_associated_with_condition MONDO:0005258 infores:clingen HGNC:20653 MONDO:0005258 Disputed 2020-10-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_463ee005-1264-45da-bd85-3776a6637c68-2020-10-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:60561 biolink:gene_associated_with_condition MONDO:0016419 infores:clingen HGNC:21876 MONDO:0016419 Refuted 2023-03-14T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d523910c-67e4-4cec-82a2-d7803957ec02-2023-03-14T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:27086 biolink:gene_associated_with_condition MONDO:0013352 infores:ubergraph knowledge_assertion manual_agent HGNC:3823 MONDO:0013352 NCBIGene:1740 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1740 MONDO:0700096 No evidence available 0 true NCBIGene:340419 biolink:gene_associated_with_condition MONDO:0060732 infores:ubergraph knowledge_assertion manual_agent HGNC:28583 MONDO:0060732 NCBIGene:9056 biolink:gene_associated_with_condition MONDO:0009109 infores:clingen NCBIGene:9056 MONDO:0009109 Definitive 2019-11-08T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207778e3-aff9-427d-ae87-f68fd938af88-2019-11-08T170000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:8566 biolink:gene_associated_with_condition MONDO:0032792 infores:ubergraph knowledge_assertion manual_agent HGNC:8819 MONDO:0032792 NCBIGene:8567 biolink:gene_associated_with_condition MONDO:0033561 infores:ubergraph knowledge_assertion manual_agent HGNC:6766 MONDO:0033561 NCBIGene:8243 biolink:gene_associated_with_condition MONDO:0010370 infores:clingen NCBIGene:8243 MONDO:0010370 Sufficient evidence for dosage pathogenicity 3 NCBIGene:2658 biolink:gene_associated_with_condition MONDO:0014217 infores:clingen HGNC:4217 MONDO:0014217 Moderate 2023-04-03T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00608fb7-3483-495a-8f9e-76aabb4b1dc0-2023-04-03T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:5167 biolink:gene_associated_with_condition MONDO:0013219 infores:ubergraph knowledge_assertion manual_agent HGNC:3356 MONDO:0013219 NCBIGene:1798 biolink:gene_associated_with_condition MONDO:0013883 infores:ubergraph knowledge_assertion manual_agent HGNC:2995 MONDO:0013883 NCBIGene:3973 biolink:gene_associated_with_condition MONDO:0009384 infores:ubergraph knowledge_assertion manual_agent HGNC:6585 MONDO:0009384 NCBIGene:57176 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:21642 MONDO:0044970 Definitive 2022-05-19T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca9dc1e7-f79c-472e-b6ea-5d38aaf61bea-2022-05-19T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:2248 biolink:gene_associated_with_condition MONDO:0012541 infores:clingen NCBIGene:2248 MONDO:0012541 Definitive 2019-05-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ca11e8c-6703-4be5-a8c2-82e6dcc865e4-2019-05-21T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:121214 biolink:gene_associated_with_condition MONDO:0033092 infores:ubergraph knowledge_assertion manual_agent HGNC:29958 MONDO:0033092 NCBIGene:6229 biolink:gene_associated_with_condition MONDO:0012529 infores:ubergraph knowledge_assertion manual_agent HGNC:10411 MONDO:0012529 NCBIGene:7546 biolink:gene_associated_with_condition MONDO:0016296 infores:clingen NCBIGene:7546 MONDO:0016296 Sufficient evidence for dosage pathogenicity 3 NCBIGene:10 biolink:gene_associated_with_condition MONDO:0009472 infores:ubergraph knowledge_assertion manual_agent HGNC:7646 MONDO:0009472 NCBIGene:5913 biolink:gene_associated_with_condition MONDO:0014588 infores:ubergraph knowledge_assertion manual_agent HGNC:9863 MONDO:0014588 NCBIGene:1641 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1641 MONDO:0700096 No evidence available 0 true NCBIGene:5350 biolink:gene_associated_with_condition MONDO:0000591 infores:clingen NCBIGene:5350 MONDO:0000591 Definitive 2021-02-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f49f65fb-a2df-4e86-9a89-da2325b207c8-2021-02-12T170000.000Z AD Autosomal Dominant 0000006 true Little evidence for dosage pathogenicity 1 NCBIGene:9622 biolink:gene_associated_with_condition MONDO:0008772 infores:ubergraph knowledge_assertion manual_agent HGNC:6365 MONDO:0008772 NCBIGene:915 biolink:gene_associated_with_condition MONDO:0014280 infores:clingen NCBIGene:915 MONDO:0014280 Definitive 2022-05-10T18:54:46.511Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d59cf46-9acb-42f7-92da-d17113d39b38-2022-05-10T185446.511Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:100506658 biolink:gene_associated_with_condition MONDO:0020789 infores:clingen NCBIGene:100506658 MONDO:0020789 Gene associated with autosomal recessive phenotype 30 NCBIGene:23594 biolink:gene_associated_with_condition MONDO:0013430 infores:ubergraph knowledge_assertion manual_agent HGNC:17151 MONDO:0013430 NCBIGene:79971 biolink:gene_associated_with_condition MONDO:0859209 infores:ubergraph knowledge_assertion manual_agent HGNC:30238 MONDO:0859209 NCBIGene:4548 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4548 MONDO:0700096 No evidence available 0 true NCBIGene:144811 biolink:gene_associated_with_condition MONDO:0032920 infores:ubergraph knowledge_assertion manual_agent HGNC:26789 MONDO:0032920 NCBIGene:84701 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:16232 MONDO:0044970 Limited 2024-03-18T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a77de2a3-bc6f-47fc-a56c-edee31e11dcb-2024-03-18T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:128674 biolink:gene_associated_with_condition MONDO:0009482 infores:clingen HGNC:15836 MONDO:0009482 Definitive 2022-04-26T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ed279e5-f1a6-4f02-818e-e34aaf8c9947-2022-04-26T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:93587 biolink:gene_associated_with_condition MONDO:0000208 infores:clingen NCBIGene:93587 MONDO:0000208 Gene associated with autosomal recessive phenotype 30 NCBIGene:4709 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7698 MONDO:0044970 Definitive 2022-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d93728e-eda7-4f4a-bd64-a1f545476ee8-2022-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:7170 biolink:gene_associated_with_condition MONDO:0100108 infores:clingen HGNC:12012 MONDO:0100108 Definitive 2024-04-08T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c190069-e5ad-4562-b69a-66acde0a2179-2024-04-08T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:477 biolink:gene_associated_with_condition MONDO:0030472 infores:ubergraph knowledge_assertion manual_agent HGNC:800 MONDO:0030472 NCBIGene:152816 biolink:gene_associated_with_condition MONDO:0013906 infores:ubergraph knowledge_assertion manual_agent HGNC:26300 MONDO:0013906 NCBIGene:389434 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:389434 MONDO:0700096 No evidence available 0 true NCBIGene:111 biolink:gene_associated_with_condition MONDO:0030625 infores:ubergraph knowledge_assertion manual_agent HGNC:236 MONDO:0030625 NCBIGene:1371 biolink:gene_associated_with_condition MONDO:0030048 infores:ubergraph knowledge_assertion manual_agent HGNC:2321 MONDO:0030048 NCBIGene:3248 biolink:gene_associated_with_condition MONDO:0024546 infores:clingen NCBIGene:3248 MONDO:0024546 Gene associated with autosomal recessive phenotype 30 NCBIGene:5594 biolink:gene_associated_with_condition MONDO:0033669 infores:ubergraph knowledge_assertion manual_agent HGNC:6871 MONDO:0033669 NCBIGene:10083 biolink:gene_associated_with_condition MONDO:0010171 infores:clingen NCBIGene:10083 MONDO:0010171 Gene associated with autosomal recessive phenotype 30 NCBIGene:23135 biolink:gene_associated_with_condition MONDO:0032790 infores:ubergraph knowledge_assertion manual_agent HGNC:29012 MONDO:0032790 NCBIGene:5277 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:8957 MONDO:0100038 Definitive 2024-04-16T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fbb591b-eb34-4b73-a741-2f101886c896-2024-04-16T170000.000Z XL X-linked 0001417 NCBIGene:80000 biolink:gene_associated_with_condition MONDO:0024520 infores:ubergraph knowledge_assertion manual_agent HGNC:31042 MONDO:0024520 NCBIGene:8314 biolink:gene_associated_with_condition MONDO:0013692 infores:clingen NCBIGene:8314 MONDO:0013692 Definitive 2019-03-21T17:57:13.803Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70c33af-2e4f-4489-9c29-797655015b1d-2019-03-21T175713.803Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:4151 biolink:gene_associated_with_condition MONDO:0859530 infores:ubergraph knowledge_assertion manual_agent HGNC:6915 MONDO:0859530 NCBIGene:2263 biolink:gene_associated_with_condition MONDO:0007405 infores:clingen HGNC:3689 MONDO:0007405 Definitive 2021-12-23T16:53:45.170Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2cfa70a-750f-4357-98b9-f5c30ca4dc26-2021-12-23T165345.170Z AD Autosomal Dominant 0000006 NCBIGene:4758 biolink:gene_associated_with_condition MONDO:0017734 infores:clingen HGNC:7758 MONDO:0017734 Definitive 2025-04-11T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01f588c4-4fef-493d-b5e0-a76fb9492244-2025-04-11T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6792 biolink:gene_associated_with_condition MONDO:0010396 infores:clingen NCBIGene:6792 MONDO:0010396 Sufficient evidence for dosage pathogenicity 3 NCBIGene:8742 biolink:gene_associated_with_condition MONDO:0015517 infores:clingen HGNC:11927 MONDO:0015517 Limited 2022-07-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b943345a-024d-401d-a147-470c0ea0381c-2022-07-22T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:84876 biolink:gene_associated_with_condition MONDO:0013007 infores:ubergraph knowledge_assertion manual_agent HGNC:25896 MONDO:0013007 NCBIGene:1439 biolink:gene_associated_with_condition MONDO:0013712 infores:ubergraph knowledge_assertion manual_agent HGNC:2436 MONDO:0013712 NCBIGene:4281 biolink:gene_associated_with_condition MONDO:0010222 infores:clingen NCBIGene:4281 MONDO:0010222 Definitive 2018-03-20T23:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2471967-d6b3-4ffb-a9fd-e3dbd089cb20-2018-03-20T230000.000Z XL X-linked 0001417 Sufficient evidence for dosage pathogenicity 3 NCBIGene:164 biolink:gene_associated_with_condition MONDO:0859174 infores:ubergraph knowledge_assertion manual_agent HGNC:555 MONDO:0859174 NCBIGene:4591 biolink:gene_associated_with_condition MONDO:0009664 infores:clingen NCBIGene:4591 MONDO:0009664 Definitive 2020-05-01T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0faa569d-4e0c-4809-a1b2-a93d460751e8-2020-05-01T160000.000Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:5910 biolink:gene_associated_with_condition MONDO:0958001 infores:ubergraph knowledge_assertion manual_agent HGNC:9859 MONDO:0958001 NCBIGene:65217 biolink:gene_associated_with_condition MONDO:0010168 infores:clingen HGNC:14674 MONDO:0010168 Definitive 2017-02-15T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5657 AR Autosomal Recessive 0000007 NCBIGene:84976 biolink:gene_associated_with_condition MONDO:0016296 infores:clingen HGNC:19711 MONDO:0016296 Limited 2022-09-27T09:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef9d5a3b-d4ec-473b-b5a2-aaa25cf9babd-2022-09-27T090000.000Z AD Autosomal Dominant 0000006 NCBIGene:22953 biolink:gene_associated_with_condition MONDO:0019497 infores:clingen HGNC:15459 MONDO:0019497 Moderate 2022-09-21T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1dae6b6-4ed7-4c5a-ba4e-bcfaba026be8-2022-09-21T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:149233 biolink:gene_associated_with_condition MONDO:0011573 infores:ubergraph knowledge_assertion manual_agent HGNC:19100 MONDO:0011573 NCBIGene:54148 biolink:gene_associated_with_condition MONDO:0957992 infores:ubergraph knowledge_assertion manual_agent HGNC:14027 MONDO:0957992 NCBIGene:10664 biolink:gene_associated_with_condition MONDO:0700294 infores:ubergraph knowledge_assertion manual_agent HGNC:13723 MONDO:0700294 NCBIGene:9343 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9343 MONDO:0700096 No evidence available 0 true NCBIGene:9131 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:8768 MONDO:0009723 Moderate 2021-06-14T13:57:32.582Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e917f93b-01ef-42e3-bf8d-b50a91f83f9c-2021-06-14T135732.582Z XL X-linked 0001417 NCBIGene:28982 biolink:gene_associated_with_condition MONDO:0100449 infores:clingen HGNC:24682 MONDO:0100449 Definitive 2021-08-05T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e53e1a9-b1b9-4617-be3a-012399a06ef6-2021-08-05T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:207 biolink:gene_associated_with_condition MONDO:0014048 infores:clingen HGNC:391 MONDO:0014048 Limited 2024-11-12T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1333bd6d-332b-4c75-8811-cde8efce2001-2024-11-12T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:65109 biolink:gene_associated_with_condition MONDO:0010398 infores:clingen NCBIGene:65109 MONDO:0010398 Sufficient evidence for dosage pathogenicity 3 NCBIGene:23325 biolink:gene_associated_with_condition MONDO:0014354 infores:ubergraph knowledge_assertion manual_agent HGNC:29174 MONDO:0014354 NCBIGene:471 biolink:gene_associated_with_condition MONDO:0012099 infores:ubergraph knowledge_assertion manual_agent HGNC:794 MONDO:0012099 NCBIGene:529 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:529 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:825 biolink:gene_associated_with_condition MONDO:0015151 infores:clingen HGNC:1480 MONDO:0015151 Definitive 2025-05-13T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c9eee52-920c-47e4-99f9-a5afb97d49f2-2025-05-13T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:2956 biolink:gene_associated_with_condition MONDO:0013710 infores:ubergraph knowledge_assertion manual_agent HGNC:7329 MONDO:0013710 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0014196 infores:clingen HGNC:3688 MONDO:0014196 Moderate 2021-03-16T23:55:09.401Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec5034c6-70cb-4ba3-bbb9-f65f6cad393d-2021-03-16T235509.401Z AD Autosomal Dominant 0000006 NCBIGene:1788 biolink:gene_associated_with_condition MONDO:0014382 infores:clingen NCBIGene:1788 MONDO:0014382 Definitive 2023-06-08T06:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c34cf649-4fbd-4184-9bef-34a780766aca-2023-06-08T060000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:3039 biolink:gene_associated_with_condition MONDO:0011399 infores:clingen NCBIGene:3039 MONDO:0011399 Gene associated with autosomal recessive phenotype 30 NCBIGene:6697 biolink:gene_associated_with_condition MONDO:0012994 infores:ubergraph knowledge_assertion manual_agent HGNC:11257 MONDO:0012994 NCBIGene:2034 biolink:gene_associated_with_condition MONDO:0012729 infores:ubergraph knowledge_assertion manual_agent HGNC:3374 MONDO:0012729 NCBIGene:79572 biolink:gene_associated_with_condition MONDO:0009935 infores:ubergraph knowledge_assertion manual_agent HGNC:24113 MONDO:0009935 NCBIGene:56203 biolink:gene_associated_with_condition MONDO:0014513 infores:ubergraph knowledge_assertion manual_agent HGNC:6649 MONDO:0014513 NCBIGene:3052 biolink:gene_associated_with_condition MONDO:0024552 infores:ubergraph knowledge_assertion manual_agent HGNC:4837 MONDO:0024552 NCBIGene:8542 biolink:gene_associated_with_condition MONDO:0012931 infores:clingen HGNC:618 MONDO:0012931 Definitive 2021-09-28T02:30:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47d0f13d-5122-4762-82c9-08db3ba104d1-2021-09-28T023000.000Z AR Autosomal Recessive 0000007 NCBIGene:9203 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:9203 MONDO:0700096 No evidence available 0 true NCBIGene:23522 biolink:gene_associated_with_condition MONDO:0011365 infores:ubergraph knowledge_assertion manual_agent HGNC:17582 MONDO:0011365 NCBIGene:1950 biolink:gene_associated_with_condition MONDO:0012717 infores:ubergraph knowledge_assertion manual_agent HGNC:3229 MONDO:0012717 NCBIGene:150365 biolink:gene_associated_with_condition MONDO:0032746 infores:ubergraph knowledge_assertion manual_agent HGNC:28613 MONDO:0032746 NCBIGene:7454 biolink:gene_associated_with_condition MONDO:0010294 infores:ubergraph knowledge_assertion manual_agent HGNC:12731 MONDO:0010294 NCBIGene:5063 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:5063 MONDO:0700096 No evidence available 0 true NCBIGene:3739 biolink:gene_associated_with_condition MONDO:0032656 infores:ubergraph knowledge_assertion manual_agent HGNC:6222 MONDO:0032656 NCBIGene:4624 biolink:gene_associated_with_condition MONDO:0800442 infores:ubergraph knowledge_assertion manual_agent HGNC:7576 MONDO:0800442 NCBIGene:57570 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:23141 MONDO:0044970 Definitive 2022-07-18T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d1268d1-4c34-4ab0-a7fd-ef5ccc90415f-2022-07-18T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:718 biolink:gene_associated_with_condition MONDO:0013043 infores:ubergraph knowledge_assertion manual_agent HGNC:1318 MONDO:0013043 NCBIGene:64240 biolink:gene_associated_with_condition MONDO:0008863 infores:clingen HGNC:13886 MONDO:0008863 Definitive 2020-07-10T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:91949 biolink:gene_associated_with_condition MONDO:0012118 infores:ubergraph knowledge_assertion manual_agent HGNC:18622 MONDO:0012118 NCBIGene:4210 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4210 MONDO:0700096 No evidence available 0 true No evidence available 0 NCBIGene:4625 biolink:gene_associated_with_condition MONDO:0016195 infores:ubergraph knowledge_assertion manual_agent HGNC:7577 MONDO:0016195 NCBIGene:5290 biolink:gene_associated_with_condition MONDO:0013125 infores:ubergraph knowledge_assertion manual_agent HGNC:8975 MONDO:0013125 NCBIGene:29089 biolink:gene_associated_with_condition MONDO:0014638 infores:clingen NCBIGene:29089 MONDO:0014638 Gene associated with autosomal recessive phenotype 30 NCBIGene:2260 biolink:gene_associated_with_condition MONDO:0008603 infores:ubergraph knowledge_assertion manual_agent HGNC:3688 MONDO:0008603 NCBIGene:6263 biolink:gene_associated_with_condition MONDO:0019952 infores:clingen HGNC:10485 MONDO:0019952 Disputed 2023-08-28T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f234219f-23fd-449f-9d7e-4c1731af3309-2023-08-28T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:4693 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:4693 MONDO:0700096 No evidence available 0 true NCBIGene:10367 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:1530 MONDO:0044970 Definitive 2023-11-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c9276ee-39e6-408f-9ae0-a4c3000f3089-2023-11-20T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:64421 biolink:gene_associated_with_condition MONDO:0011225 infores:ubergraph knowledge_assertion manual_agent HGNC:17642 MONDO:0011225 NCBIGene:463 biolink:gene_associated_with_condition MONDO:0010847 infores:ubergraph knowledge_assertion manual_agent HGNC:777 MONDO:0010847 NCBIGene:3295 biolink:gene_associated_with_condition MONDO:0009855 infores:clingen HGNC:5213 MONDO:0009855 Definitive 2020-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b992de69-49b3-496d-a83a-5bcc427fdf98-2020-04-17T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6262 biolink:gene_associated_with_condition MONDO:0011484 infores:ubergraph knowledge_assertion manual_agent HGNC:10484 MONDO:0011484 NCBIGene:4069 biolink:gene_associated_with_condition MONDO:0971009 infores:ubergraph knowledge_assertion manual_agent HGNC:6740 MONDO:0971009 NCBIGene:10293 biolink:gene_associated_with_condition MONDO:0014767 infores:ubergraph knowledge_assertion manual_agent HGNC:30764 MONDO:0014767 NCBIGene:79633 biolink:gene_associated_with_condition MONDO:0100603 infores:clingen HGNC:23109 MONDO:0100603 Definitive 2025-02-20T05:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32ce4642-0431-4bd8-b1da-fb69ef6b01da-2025-02-20T050000.000Z AR Autosomal Recessive 0000007 NCBIGene:9230 biolink:gene_associated_with_condition MONDO:0060624 infores:ubergraph knowledge_assertion manual_agent HGNC:9761 MONDO:0060624 NCBIGene:9568 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:4507 MONDO:0100038 Moderate 2024-11-19T18:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_563863fd-cdfa-452c-af03-715b3696670d-2024-11-19T180000.000Z AD Autosomal Dominant 0000006 NCBIGene:26281 biolink:gene_associated_with_condition MONDO:0014319 infores:ubergraph knowledge_assertion manual_agent HGNC:3677 MONDO:0014319 NCBIGene:51594 biolink:gene_associated_with_condition MONDO:0013889 infores:clingen NCBIGene:51594 MONDO:0013889 Gene associated with autosomal recessive phenotype 30 NCBIGene:64220 biolink:gene_associated_with_condition MONDO:0011010 infores:ubergraph knowledge_assertion manual_agent HGNC:30650 MONDO:0011010 NCBIGene:1278 biolink:gene_associated_with_condition MONDO:0009159 infores:clingen HGNC:2198 MONDO:0009159 Definitive 2023-09-28T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66dcf444-5302-400f-aa44-1e12629af095-2023-09-28T040000.000Z AR Autosomal Recessive 0000007 NCBIGene:9020 biolink:gene_associated_with_condition MONDO:0018642 infores:ubergraph knowledge_assertion manual_agent HGNC:6853 MONDO:0018642 NCBIGene:5587 biolink:gene_associated_with_condition MONDO:0044303 infores:ubergraph knowledge_assertion manual_agent HGNC:9407 MONDO:0044303 NCBIGene:4049 biolink:gene_associated_with_condition MONDO:0100231 infores:ubergraph knowledge_assertion manual_agent HGNC:6709 MONDO:0100231 NCBIGene:79058 biolink:gene_associated_with_condition MONDO:0011655 infores:ubergraph knowledge_assertion manual_agent HGNC:13825 MONDO:0011655 NCBIGene:487 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:487 MONDO:0700096 No evidence available 0 true NCBIGene:23299 biolink:gene_associated_with_condition MONDO:0014121 infores:ubergraph knowledge_assertion manual_agent HGNC:17208 MONDO:0014121 NCBIGene:29078 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:21034 MONDO:0009723 Limited 2020-02-12T19:47:34.160Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2df4e73b-a8a5-4ce2-bab6-2be732d3c542-2020-02-12T194734.160Z AR Autosomal Recessive 0000007 NCBIGene:4598 biolink:gene_associated_with_condition MONDO:0012481 infores:ubergraph knowledge_assertion manual_agent HGNC:7530 MONDO:0012481 NCBIGene:27199 biolink:gene_associated_with_condition MONDO:0958191 infores:ubergraph knowledge_assertion manual_agent HGNC:4531 MONDO:0958191 NCBIGene:128869 biolink:gene_associated_with_condition MONDO:0032824 infores:ubergraph knowledge_assertion manual_agent HGNC:15791 MONDO:0032824 NCBIGene:7337 biolink:gene_associated_with_condition MONDO:0007113 infores:clingen NCBIGene:7337 MONDO:0007113 Definitive 2018-05-02T13:23:44.716Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df25de82-ea9a-4d86-8b42-6587a39650e3-2018-05-02T132344.716Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:54800 biolink:gene_associated_with_condition MONDO:0859372 infores:ubergraph knowledge_assertion manual_agent HGNC:25947 MONDO:0859372 NCBIGene:147912 biolink:gene_associated_with_condition MONDO:0012575 infores:ubergraph knowledge_assertion manual_agent HGNC:10891 MONDO:0012575 NCBIGene:56160 biolink:gene_associated_with_condition MONDO:0014984 infores:clingen HGNC:7677 MONDO:0014984 Limited 2024-06-20T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2fa3c6a0-fd54-40a5-a27c-2376703bf69d-2024-06-20T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:64601 biolink:gene_associated_with_condition MONDO:0025691 infores:ubergraph knowledge_assertion manual_agent HGNC:14584 MONDO:0025691 NCBIGene:27329 biolink:gene_associated_with_condition MONDO:0011505 infores:clingen HGNC:491 MONDO:0011505 Definitive 2022-09-22T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df7eb35c-09a3-4df2-bf05-22aee7de3855-2022-09-22T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:23522 biolink:gene_associated_with_condition MONDO:0021060 infores:clingen HGNC:17582 MONDO:0021060 Disputed 2019-02-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb3c40d8-3aea-45bf-949e-c3ba7d96a6b4-2019-02-04T170000.000Z AD Autosomal Dominant 0000006 NCBIGene:58484 biolink:gene_associated_with_condition MONDO:0014472 infores:ubergraph knowledge_assertion manual_agent HGNC:16412 MONDO:0014472 NCBIGene:23162 biolink:gene_associated_with_condition MONDO:0032755 infores:clingen HGNC:6884 MONDO:0032755 Definitive 2022-05-22T06:39:58.942Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7af4bd87-1d3d-4e52-929f-c3893f81c38a-2022-05-22T063958.942Z AD Autosomal Dominant 0000006 NCBIGene:26038 biolink:gene_associated_with_condition MONDO:0859249 infores:ubergraph knowledge_assertion manual_agent HGNC:16816 MONDO:0859249 NCBIGene:11198 biolink:gene_associated_with_condition MONDO:0859179 infores:ubergraph knowledge_assertion manual_agent HGNC:11465 MONDO:0859179 NCBIGene:29969 biolink:gene_associated_with_condition MONDO:0031043 infores:ubergraph knowledge_assertion manual_agent HGNC:28870 MONDO:0031043 NCBIGene:1188 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1188 MONDO:0700096 No evidence available 0 true NCBIGene:29119 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen NCBIGene:29119 MONDO:0100038 true No evidence available 0 NCBIGene:4935 biolink:gene_associated_with_condition MONDO:0700230 infores:clingen HGNC:20145 MONDO:0700230 Definitive 2022-10-06T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41096b60-bbfb-469e-9695-8a23986f467c-2022-10-06T160000.000Z XL X-linked 0001417 NCBIGene:1291 biolink:gene_associated_with_condition MONDO:0009681 infores:ubergraph knowledge_assertion manual_agent HGNC:2211 MONDO:0009681 NCBIGene:23500 biolink:gene_associated_with_condition MONDO:0035459 infores:ubergraph knowledge_assertion manual_agent HGNC:18143 MONDO:0035459 NCBIGene:1411 biolink:gene_associated_with_condition MONDO:0010948 infores:ubergraph knowledge_assertion manual_agent HGNC:2394 MONDO:0010948 NCBIGene:51475 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:51475 MONDO:0700096 No evidence available 0 true NCBIGene:5718 biolink:gene_associated_with_condition MONDO:0054591 infores:ubergraph knowledge_assertion manual_agent HGNC:9557 MONDO:0054591 NCBIGene:3708 biolink:gene_associated_with_condition MONDO:0007298 infores:ubergraph knowledge_assertion manual_agent HGNC:6180 MONDO:0007298 NCBIGene:3981 biolink:gene_associated_with_condition MONDO:0011686 infores:clingen NCBIGene:3981 MONDO:0011686 Definitive 2021-04-16T23:01:48.883Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec863c8-d668-4ebf-806e-e01f5a6407fe-2021-04-16T230148.883Z AR Autosomal Recessive 0000007 Gene associated with autosomal recessive phenotype 30 NCBIGene:1027 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:1027 MONDO:0700096 No evidence available 0 true NCBIGene:23503 biolink:gene_associated_with_condition MONDO:0010044 infores:clingen NCBIGene:23503 MONDO:0010044 Gene associated with autosomal recessive phenotype 30 NCBIGene:57465 biolink:gene_associated_with_condition MONDO:0014133 infores:ubergraph knowledge_assertion manual_agent HGNC:29203 MONDO:0014133 NCBIGene:6697 biolink:gene_associated_with_condition MONDO:0012994 infores:clingen HGNC:11257 MONDO:0012994 Definitive 2021-06-04T22:18:15.205Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c9f2ff6-39f1-4abc-9fdf-de4c0e23120d-2021-06-04T221815.205Z AR Autosomal Recessive 0000007 NCBIGene:10128 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:10128 MONDO:0700096 No evidence available 0 true NCBIGene:6774 biolink:gene_associated_with_condition MONDO:0014414 infores:clingen HGNC:11364 MONDO:0014414 Definitive 2024-05-17T04:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47daba8d-d94b-4efc-ac42-28d9dd81e891-2024-05-17T040000.000Z AD Autosomal Dominant 0000006 NCBIGene:79731 biolink:gene_associated_with_condition MONDO:0009723 infores:clingen HGNC:26274 MONDO:0009723 Limited 2019-12-19T19:07:22.572Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8874861d-9d28-440d-a751-54c22df0d4ad-2019-12-19T190722.572Z AR Autosomal Recessive 0000007 NCBIGene:2554 biolink:gene_associated_with_condition MONDO:0012627 infores:ubergraph knowledge_assertion manual_agent HGNC:4075 MONDO:0012627 NCBIGene:26040 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:15573 MONDO:0100038 Definitive 2020-10-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70505ca8-8869-4fa9-9965-fc8e03a19b28-2020-10-20T160000.000Z AD Autosomal Dominant 0000006 NCBIGene:200162 biolink:gene_associated_with_condition MONDO:0030307 infores:ubergraph knowledge_assertion manual_agent HGNC:26620 MONDO:0030307 NCBIGene:23265 biolink:gene_associated_with_condition MONDO:0100038 infores:clingen HGNC:23214 MONDO:0100038 Moderate 2023-06-20T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfa8fad2-3961-4f16-861f-45ce6c859ad8-2023-06-20T160000.000Z AR Autosomal Recessive 0000007 NCBIGene:6513 biolink:gene_associated_with_condition MONDO:0011724 infores:ubergraph knowledge_assertion manual_agent HGNC:11005 MONDO:0011724 NCBIGene:22796 biolink:gene_associated_with_condition MONDO:0054559 infores:clingen HGNC:6546 MONDO:0054559 Limited 2024-02-07T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67d145eb-648f-4e00-b53f-9447d650cc3e-2024-02-07T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:92840 biolink:gene_associated_with_condition MONDO:1040066 infores:ubergraph knowledge_assertion manual_agent HGNC:30078 MONDO:1040066 NCBIGene:220136 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:220136 MONDO:0700096 No evidence available 0 true NCBIGene:80705 biolink:gene_associated_with_condition MONDO:0054730 infores:ubergraph knowledge_assertion manual_agent HGNC:14927 MONDO:0054730 NCBIGene:5805 biolink:gene_associated_with_condition MONDO:0009863 infores:ubergraph knowledge_assertion manual_agent HGNC:9689 MONDO:0009863 NCBIGene:3248 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:3248 MONDO:0700096 No evidence available 0 true NCBIGene:6223 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:6223 MONDO:0700096 No evidence available 0 true NCBIGene:5009 biolink:gene_associated_with_condition MONDO:0010703 infores:ubergraph knowledge_assertion manual_agent HGNC:8512 MONDO:0010703 NCBIGene:23590 biolink:gene_associated_with_condition MONDO:0013837 infores:ubergraph knowledge_assertion manual_agent HGNC:17759 MONDO:0013837 NCBIGene:491 biolink:gene_associated_with_condition MONDO:0030719 infores:ubergraph knowledge_assertion manual_agent HGNC:815 MONDO:0030719 NCBIGene:79991 biolink:gene_associated_with_condition MONDO:0015026 infores:ubergraph knowledge_assertion manual_agent HGNC:26200 MONDO:0015026 NCBIGene:64327 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:64327 MONDO:0700096 No evidence available 0 true NCBIGene:3190 biolink:gene_associated_with_condition MONDO:0018681 infores:clingen NCBIGene:3190 MONDO:0018681 Definitive 2021-12-21T11:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1adc74c-9bbc-48fc-bbbf-1159c0944108-2021-12-21T110000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:478 biolink:gene_associated_with_condition MONDO:0700002 infores:ubergraph knowledge_assertion manual_agent HGNC:801 MONDO:0700002 NCBIGene:4566 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:7489 MONDO:0044970 Definitive 2023-04-17T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d7a973c-7786-48a1-bf82-3764761739ba-2023-04-17T160000.000Z MT Mitochondrial 0001427 NCBIGene:781 biolink:gene_associated_with_condition MONDO:0011001 infores:clingen HGNC:1399 MONDO:0011001 Disputed 2017-11-21T00:00:00 https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10147 AD Autosomal Dominant 0000006 NCBIGene:2188 biolink:gene_associated_with_condition MONDO:0700096 infores:clingen NCBIGene:2188 MONDO:0700096 No evidence available 0 true NCBIGene:4000 biolink:gene_associated_with_condition MONDO:0005021 infores:clingen NCBIGene:4000 MONDO:0005021 Definitive 2025-05-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132ea1ec-caa9-409a-8670-3edb2ec9c889-2025-05-30T160000.000Z AD Autosomal Dominant 0000006 Sufficient evidence for dosage pathogenicity 3 NCBIGene:9381 biolink:gene_associated_with_condition MONDO:0010986 infores:ubergraph knowledge_assertion manual_agent HGNC:8515 MONDO:0010986 NCBIGene:2521 biolink:gene_associated_with_condition MONDO:0011951 infores:ubergraph knowledge_assertion manual_agent HGNC:4010 MONDO:0011951 NCBIGene:51124 biolink:gene_associated_with_condition MONDO:0031481 infores:ubergraph knowledge_assertion manual_agent HGNC:18550 MONDO:0031481 NCBIGene:2778 biolink:gene_associated_with_condition MONDO:0008153 infores:ubergraph knowledge_assertion manual_agent HGNC:4392 MONDO:0008153 NCBIGene:3543 biolink:gene_associated_with_condition MONDO:0013287 infores:ubergraph knowledge_assertion manual_agent HGNC:5870 MONDO:0013287 NCBIGene:7036 biolink:gene_associated_with_condition MONDO:0011417 infores:ubergraph knowledge_assertion manual_agent HGNC:11762 MONDO:0011417 NCBIGene:4668 biolink:gene_associated_with_condition MONDO:0012222 infores:ubergraph knowledge_assertion manual_agent HGNC:7631 MONDO:0012222 NCBIGene:118491 biolink:gene_associated_with_condition MONDO:0032863 infores:ubergraph knowledge_assertion manual_agent HGNC:30726 MONDO:0032863 NCBIGene:25821 biolink:gene_associated_with_condition MONDO:0044970 infores:clingen HGNC:19261 MONDO:0044970 Definitive 2024-03-04T17:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08fff88b-cbbd-46f3-bf35-f7b7a348ab54-2024-03-04T170000.000Z AR Autosomal Recessive 0000007 NCBIGene:8516 biolink:gene_associated_with_condition MONDO:0024519 infores:ubergraph knowledge_assertion manual_agent HGNC:6144 MONDO:0024519 NCBIGene:2036 biolink:gene_associated_with_condition MONDO:0013658 infores:ubergraph knowledge_assertion manual_agent HGNC:3378 MONDO:0013658 NCBIGene:92609 biolink:gene_associated_with_condition MONDO:0044724 infores:clingen HGNC:23656 MONDO:0044724 Definitive 2021-10-25T20:21:58.414Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92bd34f9-b744-4246-b50f-cfa8ab95597b-2021-10-25T202158.414Z AR Autosomal Recessive 0000007 NCBIGene:2664 biolink:gene_associated_with_condition MONDO:0019181 infores:clingen HGNC:4226 MONDO:0019181 Moderate 2023-04-26T22:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afc42b0-6c5e-460b-87d1-035c051fe7ca-2023-04-26T220000.000Z XL X-linked 0001417 NCBIGene:7490 biolink:gene_associated_with_condition MONDO:0008682 infores:clingen HGNC:12796 MONDO:0008682 Definitive 2021-07-27T21:05:57.993Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cccc7a42-a49c-4a8d-8b9e-f16b81e9ee07-2021-07-27T210557.993Z AD Autosomal Dominant 0000006 NCBIGene:1537 biolink:gene_associated_with_condition MONDO:0014194 infores:ubergraph knowledge_assertion manual_agent HGNC:2579 MONDO:0014194 NCBIGene:64805 biolink:gene_associated_with_condition MONDO:0012354 infores:ubergraph knowledge_assertion manual_agent HGNC:18124 MONDO:0012354 NCBIGene:26834 biolink:gene_associated_with_condition MONDO:0971172 infores:ubergraph knowledge_assertion manual_agent HGNC:10193 MONDO:0971172 NCBIGene:3000 biolink:gene_associated_with_condition MONDO:0100441 infores:clingen HGNC:4689 MONDO:0100441 Definitive 2022-05-28T19:56:16.735Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8816f73d-0432-4d50-bbb6-74a8f1da96ae-2022-05-28T195616.735Z AD Autosomal Dominant 0000006 NCBIGene:80173 biolink:gene_associated_with_condition MONDO:0030462 infores:ubergraph knowledge_assertion manual_agent HGNC:21424 MONDO:0030462 NCBIGene:10430 biolink:gene_associated_with_condition MONDO:0859298 infores:ubergraph knowledge_assertion manual_agent HGNC:30414 MONDO:0859298 NCBIGene:857 biolink:gene_associated_with_condition MONDO:0015924 infores:clingen HGNC:1527 MONDO:0015924 Definitive 2025-07-30T16:00:00.000Z https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f4c3d64-7993-4196-a002-6cc9904a4360-2025-07-30T160000.000Z AD Autosomal Dominant 0000006