name: vesicle transport through interaction with t-SNAREs homolog 1A isoform 2 (human)

description: A vesicle transport through interaction with t-SNAREs homolog 1A isoform 2 that is encoded in the genome of human.


oculocutaneous albinism type 4

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.


name: ciliary microtubule associated protein 1A isoform 1 (human)

description: A ciliary microtubule associated protein 1A isoform 1 that is encoded in the genome of human.


name: hydroxymethylglutaryl-CoA synthase, mitochondrial, transit peptide removed form (human)

description: A hydroxymethylglutaryl-CoA synthase, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P54868, 38-508.


name: sodium/potassium-transporting ATPase subunit alpha-4 methylated 2 (human)

description: A sodium/potassium-transporting ATPase subunit alpha-4 (human) that has been methylated on the residue at the position equivalent to Glu-295 of the amino acid sequence represented by UniProtKB:Q13733-1. Example: UniProtKB:Q13733-1, Glu-295, MOD:00713.


name: ADP-ribosylation factor-like protein 13A isoform h1 (human)

description: An ADP-ribosylation factor-like protein 13A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5H913-1.


name: ADP-ribosylation factor-like protein 13A isoform h2 (human)

description: An ADP-ribosylation factor-like protein 13A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5H913-2.


A protein that is a translation product of the human SEPTIN1 gene or a 1:1 ortholog thereof.


septin-1 isoform h1 (human)

A septin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WYJ6-1.


septin-1 isoform h2 (human)

A septin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WYJ6-2.


PHD finger protein 7 isoform h1 (human)

A PHD finger protein 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BWX1-1.


PHD finger protein 7

A protein that is a translation product of the human PHF7 gene or a 1:1 ortholog thereof.


PHD finger protein 7 isoform h2 (human)

A PHD finger protein 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BWX1-2.


glucotetraose

Any tetrasaccharide composed of 4 glucose moieties.


maltotetraose tetrasaccharide

A glucotetrose in which the four D-glucose residues are connected by alpha(1->4) linkages.


frizzled-4 isoform 1 (human)

A frizzled-4 isoform 1 that is encoded in the genome of human.


name: Penile squamous cell carcinoma metastatic

description: Squamous cell carcinoma of the penis that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Penile Squamous Cell Carcinoma

description: Penile squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: dystrophin-related protein 2 isoform 1 (human)

description: A dystrophin-related protein 2 isoform 1 that is encoded in the genome of human.


name: synaptotagmin-like protein 2 isoform h3 (human)

description: A synaptotagmin-like protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HCH5-4.


leptin receptor isoform C (human)

A leptin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48357-3.


A flavanone glycoside that is (2S)-5,7,3',5'-tetrahydroxyflavanone attached to a beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage. Isolated from Jasminum lanceolarium, it exhibits radical scavenging activity.


A 1,2-diacyl-sn-glycero-3-phosphocholine in which the 1- and 2-acyl groups are specified as heptadecanoyl and oleoyl respectively.


Childhood Protoplasmic Astrocytoma

description: A protoplasmic astrocytoma that occurs during childhood.


name: Recurrent Childhood Protoplasmic Astrocytoma

description: The reemergence of protoplasmic astrocytoma in childhood after a period of remission.


name: Malignant fibrous histiocytoma recurrent

description: Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.


name: solute carrier family 22 member 6 isoform h1 (human)

description: A solute carrier family 22 member 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q4U2R8-1.


name: C-C motif chemokine 19, signal peptide removed form (human)

description: A C-C motif chemokine 19 (human) that has had the signal peptide removed. UniProtKB:Q99731, 22-98.


name: male pseudohermaphroditism due to defective lh molecule


proinsulin (human)

A proinsulin in human. UniProtKB:P01308, 25-110.


name: insulin gene translation product citrullinated 1 (human)

description: An insulin gene translation product (human) that has been citrullinated on the residue at the position equivalent to Arg-46 of the amino acid sequence represented by UniProtKB:P01308-1. Example: UniProtKB:P01308-1, Arg-46, MOD:00219.


insulin hormone (human)

An insulin hormone in human.


name: E3 ubiquitin-protein ligase RAD18 methylated 1 (human)

description: An E3 ubiquitin-protein ligase RAD18 (human) that has been methylated on the residue at the position equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:Q9NS91. UniProtKB:Q9NS91, Asn-394, MOD:00673.


name: exocyst complex component 2 methylated 2 (human)

description: An exocyst complex component 2 (human) that has been methylated on the residue at the position equivalent to Cys-719 of the amino acid sequence represented by UniProtKB:Q96KP1. UniProtKB:Q96KP1, Cys-719, MOD:00660.


name: prospero homeobox protein 2 isoform h2 (human)

description: A prospero homeobox protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3B8N5-2.


cis-2-dodecenoic acid

The cis isomer of 2-dodecenoic acid.


name: far upstream element-binding protein 1 deaminated 1 (human)

description: A far upstream element-binding protein 1 (human) that has been deaminated on the residue at the position equivalent to Gln-550 of the amino acid sequence represented by UniProtKB:Q96AE4-1. Example: UniProtKB:Q96AE4-1, Gln-550, MOD:00685.


name: T-cell surface glycoprotein CD4 N-glycosylated 4 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G17689DH. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G17689DH.


CD4 molecule

A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence.


name: T-cell surface glycoprotein CD4 N-glycosylated 52 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G87633UQ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G87633UQ.


name: T-cell surface glycoprotein CD4 N-glycosylated 51 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G78059CC.


name: T-cell surface glycoprotein CD4 N-glycosylated 41 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45498YC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G45498YC.


name: T-cell surface glycoprotein CD4 N-glycosylated 47 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G57413FT. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G57413FT.


name: T-cell surface glycoprotein CD4 N-glycosylated 39 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G38756OC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G38756OC.


name: T-cell surface glycoprotein CD4 N-glycosylated 18 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53450AF. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53450AF.


name: T-cell surface glycoprotein CD4 N-glycosylated 16 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G45560HM.


name: T-cell surface glycoprotein CD4 N-glycosylated 48 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G64132UH. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G64132UH.


name: T-cell surface glycoprotein CD4 N-glycosylated 31 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G18188WJ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G18188WJ.


name: T-cell surface glycoprotein CD4 N-glycosylated 34 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G27561QX. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G27561QX.


name: T-cell surface glycoprotein CD4 N-glycosylated 5 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G18188WJ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G18188WJ.


name: T-cell surface glycoprotein CD4 N-glycosylated 45 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53752TA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53752TA.


name: T-cell surface glycoprotein CD4 N-glycosylated 19 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53752TA. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53752TA.


name: CD4 molecule isoform 1 phosphorylated 1 (human)

description: A CD4 molecule isoform 1 phosphorylated 1 in human.


name: T-cell surface glycoprotein CD4 N-glycosylated 38 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G37166HP. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G37166HP.


name: T-cell surface glycoprotein CD4 N-glycosylated 30 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G17689DH. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G17689DH.


name: T-cell surface glycoprotein CD4 N-glycosylated 17 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G52622SW. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G52622SW.


name: T-cell surface glycoprotein CD4 N-glycosylated 28 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G05950HG. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G05950HG.


name: T-cell surface glycoprotein CD4 N-glycosylated 36 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G35599NO. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G35599NO.


name: T-cell surface glycoprotein CD4 N-glycosylated 3 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G07995VK.


name: T-cell surface glycoprotein CD4 N-glycosylated 37 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G36191CD.


name: T-cell surface glycoprotein CD4 N-glycosylated 21 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G57413FT. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G57413FT.


name: T-cell surface glycoprotein CD4 N-glycosylated 49 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G65890UA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G65890UA.


name: T-cell surface glycoprotein CD4 N-glycosylated 10 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G35599NO. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G35599NO.


name: T-cell surface glycoprotein CD4 N-glycosylated 14 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G44276EF. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G44276EF.


name: T-cell surface glycoprotein CD4 N-glycosylated 29 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G07995VK.


name: T-cell surface glycoprotein CD4 N-glycosylated 12 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G37166HP. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G37166HP.


name: T-cell surface glycoprotein CD4 N-glycosylated 2 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G05950HG. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G05950HG.


name: T-cell surface glycoprotein CD4 N-glycosylated 27 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G03860PZ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G03860PZ.


name: T-cell surface glycoprotein CD4 N-glycosylated 22 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G64132UH. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G64132UH.


name: T-cell surface glycoprotein CD4 N-glycosylated 35 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G30460NZ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G30460NZ.


name: T-cell surface glycoprotein CD4 N-glycosylated 26 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G87633UQ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G87633UQ.


name: T-cell surface glycoprotein CD4 N-glycosylated 7 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20966IA. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G20966IA.


name: T-cell surface glycoprotein CD4 N-glycosylated 15 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45498YC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G45498YC.


name: T-cell surface glycoprotein CD4 N-glycosylated 50 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G77252PU.


name: T-cell surface glycoprotein CD4 N-glycosylated 20 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53962WT. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53962WT.


name: T-cell surface glycoprotein CD4 N-glycosylated 44 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53450AF. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53450AF.


name: T-cell surface glycoprotein CD4 N-glycosylated 6 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20779SK. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G20779SK.


name: T-cell surface glycoprotein CD4 N-glycosylated 24 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G77252PU.


name: T-cell surface glycoprotein CD4 N-glycosylated 1 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G03860PZ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G03860PZ.


name: T-cell surface glycoprotein CD4 N-glycosylated 42 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G45560HM.


name: T-cell surface glycoprotein CD4 N-glycosylated 13 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G38756OC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G38756OC.


name: T-cell surface glycoprotein CD4 N-glycosylated 8 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G27561QX. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G27561QX.


name: T-cell surface glycoprotein CD4 N-glycosylated 40 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G44276EF. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G44276EF.


name: T-cell surface glycoprotein CD4 isoform 1 (human)

description: A CD4 molecule isoform 1 that is encoded in the genome of human.


name: T-cell surface glycoprotein CD4 N-glycosylated 46 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53962WT. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53962WT.


name: T-cell surface glycoprotein CD4 N-glycosylated 32 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20779SK. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G20779SK.


name: T-cell surface glycoprotein CD4 N-glycosylated 33 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20966IA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G20966IA.


name: T-cell surface glycoprotein CD4 N-glycosylated 25 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G78059CC.


name: T-cell surface glycoprotein CD4 N-glycosylated 9 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G30460NZ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G30460NZ.


name: CD4 molecule, signal peptide removed form (human)

description: A CD4 molecule, signal peptide removed form in human. UniProtKB:P01730, 26-458.


name: T-cell surface glycoprotein CD4 N-glycosylated 43 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G52622SW. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G52622SW.


name: T-cell surface glycoprotein CD4 N-glycosylated 11 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G36191CD.


paroxysmal dyskinesia, domestic cat

description: Paroxysmal dyskinesia that occurs in domestic cat.


voltage-gated potassium channel KCNC1

A shaw-related voltage-gated potassium channel alpha subunit that is a translation product of the human KCNC1 gene or a 1:1 ortholog thereof. They contain an ATM motif at the C-terminus, following the S6 segment that allows interaction with axonal targeting machinery when exposed.


name: potassium voltage-gated channel subfamily C member 1 isoform h2 (human)

description: A potassium voltage-gated channel subfamily C member 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48547-2.


name: potassium voltage-gated channel subfamily C member 1 isoform 1 (human)

description: A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of human.


A 1,2-diacyl-sn-glycerol that has myristoyl and linoleoyl as 1- and 2-acyl groups respectively.


silicone macromolecule

Macromolecular or oligomeric derivatives of siloxanes, usually considered unbranched, of general formula [-OSiR2-]n (R =/= H).


polydimethylsiloxane macromolecule

A fully methylated siloxane macromolecule.


name: Reoviridae infectious disease, non-human animal

description: Reoviridae infectious disease that occurs in non-human animals.


bluetongue

description: A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.


African horse sickness

description: An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.


Hard Palate Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the hard palate.  It usually presents as a papillary or exophytic mass.


Squamous cell carcinoma of palate

description: A squamous cell carcinoma that arises from the hard or soft palate.


name: acyl-coenzyme A synthetase ACSM1, mitochondrial isoform h2 (human)

description: An acyl-coenzyme A synthetase ACSM1, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q08AH1-2.


neuroplastin isoform h1 (human)

A neuroplastin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y639-1.


name: solute carrier family 2, facilitated glucose transporter member 4 isoform 1 (human)

description: A solute carrier family 2, facilitated glucose transporter member 4 isoform 1 that is encoded in the genome of human.


sebaceous gland neoplasm

description: A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.


sebaceous gland cancer

description: A cancer that involves the sebaceous gland.


benign neoplasm of sebaceous gland

description: A benign neoplasm that involves the sebaceous gland.


name: baculoviral IAP repeat-containing protein 2 isoform h2 (human)

description: A baculoviral IAP repeat-containing protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13490-2.


name: laminin subunit gamma-1 deaminated 7 (human)

description: A laminin subunit gamma-1 (human) that has been deaminated on the residue at the position equivalent to Asn-1241 of the amino acid sequence represented by UniProtKB:P11047. UniProtKB:P11047, Asn-1241, MOD:00684.


E3 ubiquitin ligase TRIM40

A tripartite motif-containing protein that is a translation product of the human TRIM40 gene or a 1:1 ortholog thereof.


name: E3 ubiquitin ligase TRIM40 isoform h1 (human)

description: An E3 ubiquitin ligase TRIM40 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6P9F5-1.


name: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1 (human)

description: A galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1 that is encoded in the genome of human.


O-acetyl-D-carnitine

An O-acyl-D-carnitine in which the acyl group specified is acetyl.


radiculitis, non-human animal

description: Radiculitis that occurs in non-human animals.


name: SERPINE1 mRNA-binding protein 1 isoform h1 (human)

description: A SERPINE1 mRNA-binding protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NC51-1.


A purine ribonucleoside 5'-triphosphate that is ATP carrying an oxo group at position 8.


gamma-aminooctyl-GTP

A nucleoside triphosphate analogue that is GTP in which one of the OH groups at the gamma-position of the triphosphate is replaced by an 8-aminooctylamino group.


A guanosine 5'-phosphate that is 7-methyl-GTP(1+) in which the hydroxy group of the terminal phosphate is substituted by an adenosyl group. It is a cap analog that can be incorporated into mRNA.


ITP

The inosine phosphate that has a triphosphate group at the 5'-position. It is an intermediate in the metabolism of purine.


A purine ribonucleoside 5'-triphosphate that is GTP substituted at the 2' position by an N-methylanthraniloyl group.


A purine ribonucleoside 5'-diphosphate that is ATP substituted at position N-6 by a dimethylallyl (isopentenyl) group.


A purine ribonucleoside 5'-triphosphate that is GTP substituted at the 3' position by an N-methylanthraniloyl group.


mRNA containing a 2'-O-methyladenosine cap.


XTP

The xanthosine 5'-phosphate in which the 5'-phosphate is a triphosphate group.


9-ribosyl-trans-zeatin 5'-triphosphate

A purine ribonucleoside 5'-triphosphate that is ATP substituted at position N-6 by a (2E)-4-hydroxy-3-methylbut-2-en-1-yl group.


A purine ribonucleoside 5'-triphosphate that is ATP in which position 2 on the adenine moiety is substituted by a hydroxy group.


A purine ribonucleoside 5'-triphosphate that is ATP carrying a hydroxy group at position 8.


Gastric Granular Cell Tumor

description: A benign or malignant granular cell tumor that arises from the stomach.


Benign Gastric Granular Cell Tumor

description: A granular cell tumor that arises from the stomach and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: G protein-activated inward rectifier potassium channel

description: An inwardly rectifying potassium channel protein that has core architecture consisting of an Inward rectifier potassium channel domain (Pfam:PF01007), which may be preceeded by an Inward rectifier potassium channel N-terminal domain (Pfam:PF08466).


name: inward rectifier potassium channel 13 isoform 1 (human)

description: An inward rectifier potassium channel 13 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 11

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ11 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 11 isoform h2 (human)

description: An ATP-sensitive inward rectifier potassium channel 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14654-2.


name: G protein-activated inward rectifier potassium channel 1 isoform 1 (human)

description: A G protein-activated inward rectifier potassium channel 1 isoform 1 that is encoded in the genome of human.


inward rectifier potassium channel 16

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ16 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 1

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ1 gene or a 1:1 ortholog thereof.


name: G protein-activated inward rectifier potassium channel 3 isoform 1 (human)

description: A G protein-activated inward rectifier potassium channel 3 isoform 1 that is encoded in the genome of human.


inward rectifier potassium channel 13

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ13 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 8

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ8 gene or a 1:1 ortholog thereof.


name: G protein-activated inward rectifier potassium channel 1

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ3 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 1 isoform h2 (human)

description: An ATP-sensitive inward rectifier potassium channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48048-2.


name: ATP-sensitive inward rectifier potassium channel 10 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 10 isoform 1 that is encoded in the genome of human.


inward rectifier potassium channel 4

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ4 gene or a 1:1 ortholog thereof.


inward rectifier potassium channel 2

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ2 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 11 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 11 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 8 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 8 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 1 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 1 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 1 isoform h3 (human)

description: An ATP-sensitive inward rectifier potassium channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48048-3.


name: G protein-activated inward rectifier potassium channel 4

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ5 gene or a 1:1 ortholog thereof.


name: inward rectifier potassium channel 2 isoform 1 (human)

description: An inward rectifier potassium channel 2 isoform 1 that is encoded in the genome of human.


name: G protein-activated inward rectifier potassium channel 1 isoform h2 (human)

description: A G protein-activated inward rectifier potassium channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48549-2.


name: ATP-sensitive inward rectifier potassium channel 14 citrullinated 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 14 (human) that has been citrullinated on the residue at the position equivalent to Arg-233 of the amino acid sequence represented by UniProtKB:Q9UNX9. UniProtKB:Q9UNX9, Arg-233, MOD:00219.


name: G protein-activated inward rectifier potassium channel 4 isoform 1 (human)

description: A G protein-activated inward rectifier potassium channel 4 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 15

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ15 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 10

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ10 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 15 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 15 isoform 1 that is encoded in the genome of human.


name: G protein-activated inward rectifier potassium channel 3

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ9 gene or a 1:1 ortholog thereof.


name: inward rectifier potassium channel 4 phosphorylated 1 (human)

description: An inward rectifier potassium channel 4 (human) that has been phosphorylated at Tyr-234. UniProtKB:P48050, Tyr-234, MOD:00048.


name: G protein-activated inward rectifier potassium channel 2

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ6 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 12

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ12 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 14

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ14 gene or a 1:1 ortholog thereof.


name: inward rectifier potassium channel 2 phosphorylated 1 (human)

description: An inward rectifier potassium channel 2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-165 of the amino acid sequence represented by UniProtKB:P63252. UniProtKB:P63252, Ser-165, MOD:00046.


name: inward rectifier potassium channel 13 isoform h2 (human)

description: An inward rectifier potassium channel 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60928-2.


oxythiamine chloride

A organic chloride salt having oxythiamine as the counterion.


neuropilin-1 N-glycosylated 1 (human)

A neuropilin-1 (human) that has been N-glycosylated at the residue equivalent to Asn-150 of the amino acid sequence represented by UniProtKB:O14786-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:O14786-1, Asn-150, MOD:00160~GNO:G59626AS.


name: collagen alpha-4(IV) chain, signal peptide removed 4-hydroxy-proline and glucosylgalactosylhydroxylysine form (human)

description: A collagen alpha-4(IV) chain (human) that has had the signal peptide removed and that includes at least 1 glucosylgalactosylhydroxylated lysine and at least 3 4-hydroxy-prolines. UniProtKB:P53420, 39-1690, MOD:00039(3+)|MOD:00162.


Stage IV Penile Cancer AJCC v6

description: Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1).  T4: Tumor invades other adjacent structures.  N3: Metastasis in deep inguinal or pelvic lymph node(s) unilateral or bilateral.  M1: Distant metastasis.  (AJCC 6th ed.)


Penile Cancer by AJCC v6 Stage

description: A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition.


Stage III Penile Cancer AJCC v6

description: Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades corpus spongiosum or cavernosum.  T3: Tumor invades urethra or prostate.  N0: No regional lymph node metastasis.  N1: Metastasis in single superficial, inguinal lymph node. N2: Metastasis in multiple or bilateral superficial inguinal lymph nodes.  M0: No distant metastasis. (AJCC 6th ed.)


Stage I Penile Cancer AJCC v6

description: Stage I includes: (T1, N0, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


Stage II Penile Cancer AJCC v6

description: Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  N1: Metastasis in a single superficial, inguinal lymph node.  M0: No distant metastasis. (AJCC 6th ed.)


Stage 0 Penile Cancer AJCC v6

description: Stage 0 includes: (Tis, N0, M0) and (Ta, N0, M0).  Tis: Carcinoma in situ.  Ta: Non-invasive verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


acute cholinergic dysautonomia

description: A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.


primary dysautonomia

description: Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.


name: Ral guanine nucleotide dissociation stimulator isoform h2 (human)

description: A Ral guanine nucleotide dissociation stimulator (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12967-2.


name: Ral guanine nucleotide dissociation stimulator

description: A protein that is a translation product of the human RALGDS gene or a 1:1 ortholog thereof.


name: Ral guanine nucleotide dissociation stimulator isoform h4 (human)

description: A Ral guanine nucleotide dissociation stimulator (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12967-4.


name: Ral guanine nucleotide dissociation stimulator isoform h6 (human)

description: A Ral guanine nucleotide dissociation stimulator (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12967-6.


name: Ral guanine nucleotide dissociation stimulator isoform h3 (human)

description: A Ral guanine nucleotide dissociation stimulator (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12967-3.


name: Ral guanine nucleotide dissociation stimulator isoform h5 (human)

description: A Ral guanine nucleotide dissociation stimulator (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12967-5.


name: Ral guanine nucleotide dissociation stimulator isoform h1 (human)

description: A Ral guanine nucleotide dissociation stimulator (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12967-1.


name: cartilage oligomeric matrix protein N-glycosylated 2 (human)

description: A cartilage oligomeric matrix protein (human) that has been N-glycosylated at the residue equivalent to Asn-742 of the amino acid sequence represented by UniProtKB:P49747-1, in which the glycan composition is represented by GlyTouCan:G80920RR. Example: UniProtKB:P49747-1, Asn-742, MOD:00160~GNO:G80920RR.


mimecan deaminated 1 (human)

A mimecan (human) that has been deaminated on the residue at the position equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:P20774. UniProtKB:P20774, Asn-144, MOD:00684.


mimecan

A protein that is a translation product of the human OGN gene or a 1:1 ortholog thereof.


name: mimecan, signal peptide removed N-acetylaminoglucosyl-asparagine form (human)

description: A mimecan (human) that has had the signal peptide removed and that includes at least one N-acetylaminoglucosyl-asparagine. UniProtKB:P20774, 21-298, MOD:00831.


mimecan O-glycosylated 1 (human)

A mimecan (human) that has been O-glycosylated at the residue equivalent to Thr-80 of the amino acid sequence represented by UniProtKB:P20774-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P20774-1, Thr-80, MOD:00005~GNO:G43417UB.


mimecan isoform 1 (human)

A mimecan isoform 1 that is encoded in the genome of human.


name: mimecan, signal peptide removed N-glycosylasparagine form (human)

description: A mimecan (human) that has had the signal peptide removed and that includes at least 1 N-glycosylated asparagine. UniProtKB:P20774, 21-298, MOD:00160.


mimecan phosphorylated 1 (human)

A mimecan (human) that has been phosphorylated on the residue at the position equivalent to Ser-44 of the amino acid sequence represented by UniProtKB:P20774. UniProtKB:P20774, Ser-44, MOD:00046.


name: solute carrier organic anion transporter family member 2A1 sequence variant C420F (human)

description: A solute carrier organic anion transporter family member 2A1 (human) that has a Phe residue at the position equivalent to Cys-420 of the amino acid sequence represented by UniProtKB:Q92959. UniProtKB:Q92959, Cys-420, CHEBI:29997.


name: solute carrier organic anion transporter family member 2A1

description: A solute carrier organic anion transporter family member that is a translation product of the human SLCO2A1 gene or a 1:1 ortholog thereof.


name: solute carrier organic anion transporter family member 2A1 sequence variant G222R (human)

description: A solute carrier organic anion transporter family member 2A1 (human) that has an Arg residue at the position equivalent to Gly-222 of the amino acid sequence represented by UniProtKB:Q92959. UniProtKB:Q92959, Gly-222, CHEBI:29952.


name: solute carrier organic anion transporter family member 2A1 sequence variant G255E (human)

description: A solute carrier organic anion transporter family member 2A1 (human) that has a Glu residue at the position equivalent to Gly-255 of the amino acid sequence represented by UniProtKB:Q92959. UniProtKB:Q92959, Gly-255, CHEBI:29972.


name: immunoglobulin heavy constant mu N-glycosylated 41 (human)

description: An immunoglobulin heavy constant mu (human) that has been N-glycosylated at the residue equivalent to Asn-272 of the amino acid sequence represented by UniProtKB:P01871-2, in which the glycan structure is represented by GlyTouCan:G65219TP. Example: UniProtKB:P01871-2, Asn-272, MOD:00160~GNO:G65219TP.


name: vacuolar ATPase assembly integral membrane protein VMA21 isoform h2 (human)

description: A vacuolar ATPase assembly integral membrane protein VMA21 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3ZAQ7-2.


name: inositol 1,4,5-trisphosphate receptor type 3 deaminated 1 (human)

description: An inositol 1,4,5-trisphosphate receptor type 3 (human) that has been deaminated on the residue at the position equivalent to Asn-2567 of the amino acid sequence represented by UniProtKB:Q14573. UniProtKB:Q14573, Asn-2567, MOD:00684.


name: B-cell CLL/lymphoma 7 protein family member B isoform 1 (human)

description: A B-cell CLL/lymphoma 7 protein family member B isoform 1 that is encoded in the genome of human.


torsin-1B methylated 1 (human)

A torsin-1B (human) that has been methylated on the residue at the position equivalent to Cys-51 of the amino acid sequence represented by UniProtKB:O14657. UniProtKB:O14657, Cys-51, MOD:00660.


name: torsin-1B, signal peptide removed form (human)

description: A torsin-1B (human) that has had the signal peptide removed. UniProtKB:O14657, 25-336.


chromosome 17p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.


distal 17p13.3 microdeletion syndrome

description: Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.


chromosome 17q12 deletion syndrome

description: 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.


distal 17p13.1 microdeletion syndrome

description: Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.


name: chromosome 17q23.1-q23.2 deletion syndrome

description: 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


name: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


name: chromosome 17q11.2 deletion syndrome, 1.4Mb

description: A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.


name: partial deletion of the long arm of chromosome 17


distal monosomy 17q

description: Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).


17q24.2 microdeletion syndrome

description: A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.


description: L-2-hydroxyglutaricacidemia that occurs in non-human animals.


description: L-2-hydroxyglutaricacidemia that occurs in domestic cat.


L-2-hydroxyglutaricacidemia, dog

description: L-2-hydroxyglutaricacidemia that occurs in dog.


inherited cutis laxa

description: An instance of cutis laxa that is inherited.


cutis laxa, autosomal dominant 1

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.


autosomal recessive cutis laxa type 2

description: A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).


ALDH18A1-related de Barsy syndrome

description: ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


cutis laxa, autosomal dominant 3

description: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.


name: cutis laxa, autosomal recessive, type 2E


wrinkly skin syndrome

description: A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).


acquired cutis laxa

description: An instance of cutis laxa that is acquired during the lifetime of the individual.


name: cutis laxa, autosomal recessive, type 1B

description: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.


geroderma osteodysplastica

description: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.


name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

description: A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13


craniofaciofrontodigital syndrome

description: Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).


name: autosomal recessive cutis laxa type 2, classic type


autosomal recessive cutis laxa type 2D

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.


name: cutis laxa, autosomal recessive, type 1A

description: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


autosomal recessive cutis laxa type 2B

description: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


RIN2 syndrome

description: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


name: cutis laxa, autosomal recessive, type 1d


PYCR1-related de Barsy syndrome

description: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


autosomal recessive cutis laxa type 2A

description: An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.


autosomal recessive cutis laxa type 1

description: Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).


cutis laxa, autosomal dominant 2

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


autosomal recessive cutis laxa type 2C

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


name: neuronal growth regulator 1 isoform h2 (human)

description: A neuronal growth regulator 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z3B1-2.


name: TBC1 domain family member 2B deaminated 1 (human)

description: A TBC1 domain family member 2B (human) that has been deaminated on the residue at the position equivalent to Gln-369 of the amino acid sequence represented by UniProtKB:Q9UPU7-1. Example: UniProtKB:Q9UPU7-1, Gln-369, MOD:00685.


name: pancreatic alpha-amylase isoform h1 (human)

description: A pancreatic alpha-amylase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04746-1.


calcium phosphate

A calcium salt composed of calcium and phosphate/diphosphate ions; present in milk and used for the mineralisation of calcified tissues.


Paratesticular Leiomyosarcoma

description: A leiomyosarcoma that arises from the paratesticular region.


name: protein SEC13 homolog cysteinylated 1 (human)

description: A protein SEC13 homolog (human) that has been cysteinylated on the residue at the position equivalent to Cys-153 of the amino acid sequence represented by UniProtKB:P55735-1. Example: UniProtKB:P55735-1, Cys-153, MOD:00765.


name: protein SEC13 homolog deaminated 1 (human)

description: A protein SEC13 homolog (human) that has been deaminated on the residue at the position equivalent to Asn-154 of the amino acid sequence represented by UniProtKB:P55735-1. Example: UniProtKB:P55735-1, Asn-154, MOD:00684.


name: protein SEC13 homolog isoform h4 (human)

description: A protein SEC13 homolog (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55735-4.


name: protein SEC13 homolog deaminated 2 (human)

description: A protein SEC13 homolog (human) that has been deaminated on the residue at the position equivalent to Asn-189 of the amino acid sequence represented by UniProtKB:P55735-1. Example: UniProtKB:P55735-1, Asn-189, MOD:00684.


name: protein SEC13 homolog isoform h2 (human)

description: A protein SEC13 homolog (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55735-2.


name: protein SEC13 homolog isoform h1 (human)

description: A protein SEC13 homolog (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55735-1.


name: protein SEC13 homolog isoform h3 (human)

description: A protein SEC13 homolog (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55735-3.


name: protein SEC13 homolog methylated 1 (human)

description: A protein SEC13 homolog (human) that has been methylated on the residue at the position equivalent to Cys-153 of the amino acid sequence represented by UniProtKB:P55735-1. Example: UniProtKB:P55735-1, Cys-153, MOD:00660.


name: protein SEC13 homolog, initiator methionine removed form (human)

description: A protein SEC13 homolog (human) that has had the initiator methionine removed. UniProtKB:P55735, 2-322.


stathmin-4 isoform 2 (human)

A stathmin-4 isoform 2 that is encoded in the genome of human.


stathmin-4 isoform h3 (human)

A stathmin-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H169-3.


stathmin-4 isoform h4 (human)

A stathmin-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H169-4.


stathmin-4 isoform 1 (human)

A stathmin-4 isoform 1 that is encoded in the genome of human.


name: DNA repair protein RAD51 homolog 1 isoform h3 (human)

description: A DNA repair protein RAD51 homolog 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06609-3.


name: germ cell-specific gene 1-like protein isoform h1 (human)

description: A germ cell-specific gene 1-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXU4-1.


germ cell-specific gene 1-like protein

A protein that is a translation product of the human GSG1L gene or a 1:1 ortholog thereof.


name: germ cell-specific gene 1-like protein isoform h3 (human)

description: A germ cell-specific gene 1-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXU4-4.


name: germ cell-specific gene 1-like protein isoform h2 (human)

description: A germ cell-specific gene 1-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXU4-3.


name: germ cell-specific gene 1-like protein isoform h4 (human)

description: A germ cell-specific gene 1-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXU4-2.


uromodulin N-glycosylated 126 (human)

A uromodulin (human) that has been N-glycosylated at the residue equivalent to Asn-275 of the amino acid sequence represented by UniProtKB:P07911-1, in which the glycan structure is represented by GlyTouCan:G99808VS. Example: UniProtKB:P07911-1, Asn-275, MOD:00160~GNO:G99808VS.


name: phytanoyl-CoA dioxygenase domain-containing protein 1 isoform 1 (human)

description: A phytanoyl-CoA dioxygenase domain-containing protein 1 isoform 1 that is encoded in the genome of human.


name: oxysterol-binding protein-related protein 10 isoform h1 (human)

description: An oxysterol-binding protein-related protein 10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BXB5-1.


name: reticulon-3, initiator methionine removed form (human)

description: A reticulon-3 (human) that has had the initiator methionine removed. UniProtKB:O95197, 2-1032.


name: MICOS complex subunit MIC60 isoform h1 (human)

description: A MICOS complex subunit MIC60 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q16891-1.


name: small nuclear ribonucleoprotein F isoform 1 (human)

description: A small nuclear ribonucleoprotein F isoform 1 that is encoded in the genome of human.


name: matrix-remodeling-associated protein 5 O-glycosylated 11 (human)

description: A matrix-remodeling-associated protein 5 (human) that has been O-glycosylated at the residue equivalent to Thr-1377 of the amino acid sequence represented by UniProtKB:Q9NR99-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9NR99-1, Thr-1377, MOD:00005~GNO:G43417UB.


A glycosylgalactose consisting of beta-D-galactose having an alpha-L-fucosyl residue attached at the 2-position.


name: cytohesin-interacting protein isoform h1 (human)

description: A cytohesin-interacting protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60759-1.


name: ribosome-binding protein 1 deaminated 1 (human)

description: A ribosome-binding protein 1 (human) that has been deaminated on the residue at the position equivalent to Asn-158 of the amino acid sequence represented by UniProtKB:Q9P2E9-1. Example: UniProtKB:Q9P2E9-1, Asn-158, MOD:00684.


name: amyloid beta precursor like protein 2 O-glycosylated 3 (human)

description: An amyloid beta precursor like protein 2 (human) that has been O-glycosylated at the residue equivalent to Thr-43 of the amino acid sequence represented by UniProtKB:Q06481-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q06481-1, Thr-43, MOD:00005~GNO:G43417UB.


name: cellular congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.


name: cell growth regulator with EF hand domain protein 1 isoform h2 (human)

description: A cell growth regulator with EF hand domain protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99674-2.


name: cell growth regulator with EF hand domain protein 1 isoform h4 (human)

description: A cell growth regulator with EF hand domain protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99674-4.


name: cell growth regulator with EF hand domain protein 1 O-glycosylated 1 (human)

description: A cell growth regulator with EF hand domain protein 1 (human) that has been O-glycosylated at the residue equivalent to Ser-159 of the amino acid sequence represented by UniProtKB:Q99674-4, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q99674-4, Ser-159, MOD:00002~GNO:G43417UB.


name: cell growth regulator with EF hand domain protein 1 O-glycosylated 2 (human)

description: A cell growth regulator with EF hand domain protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-111 of the amino acid sequence represented by UniProtKB:Q99674-4, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q99674-4, Thr-111, MOD:00005~GNO:G43417UB.


name: cell growth regulator with EF hand domain protein 1 isoform h3 (human)

description: A cell growth regulator with EF hand domain protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99674-3.


nephrin isoform h2 (human)

A nephrin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60500-2.


name: microcephaly 22, primary, autosomal recessive


name: E3 ubiquitin-protein ligase Itchy homolog deaminated 5 (human)

description: An E3 ubiquitin-protein ligase Itchy homolog (human) that has been deaminated on the residue at the position equivalent to Asn-451 of the amino acid sequence represented by UniProtKB:Q96J02-1. Example: UniProtKB:Q96J02-1, Asn-451, MOD:00684.


name: epididymal-specific lipocalin-12, signal peptide removed form (human)

description: An epididymal-specific lipocalin-12 (human) that has had the signal peptide removed. UniProtKB:Q6JVE5, 20-192.


name: chromosome Xp11.23-p11.22 duplication syndrome

description: A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.


chromosome X disorder

description: Chromosomal disorder in which chromosome X is affected.


name: paternal uniparental disomy of chromosome X


description: X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.


name: maternal uniparental disomy of chromosome X


name: X-linked diffuse leiomyomatosis-Alport syndrome

description: A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.


name: partial duplication of the long arm of chromosome X

description: Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.


name: partial monosomy of the short arm of chromosome X


Xq27.3q28 duplication syndrome

description: Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


name: X-linked acrogigantism due to Xq26 microduplication


49,XXXYY syndrome

description: 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.


tetrasomy X

description: Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).


name: partial deletion of the long arm of chromosome X


Xq12-q13.3 duplication syndrome

description: Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.


Xp22.3 microdeletion syndrome

description: Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.


X small rings

description: X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


name: atypical Norrie disease due to monosomy Xp11.3

description: Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.


distal Xq28 microduplication syndrome

description: Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.


description: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


name: partial duplication of the short arm of chromosome X


Vaginal Germ Cell Tumor

description: A germ tumor that arises from the vagina.


Vaginal Dermoid Cyst

description: A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.


name: transient receptor potential cation channel subfamily M member 1 phosphorylated 1 (human)

description: A transient receptor potential cation channel subfamily M member 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-995 of the amino acid sequence represented by UniProtKB:Q7Z4N2-1. Example: UniProtKB:Q7Z4N2-1, Ser-995, MOD:00046.


rubidium-87 atom

The stable isotope of rubidium with relative atomic mass 86.909184, 27.9 atom percent natural abundance and nuclear spin 3/2.


lysophosphatidylserine 16:0

A lysophosphatidylserine in which the remaining acyl group (position not specified) contains 16 carbons and 0 double bonds.


hepoxilin

Mono-hydroxy epoxy icosatrienoic acids which are generated along the 12-lipoxygenase pathway.


11(S)-hydroxy-14(S),15(S)-hepoxilin A3

A hepoxilin having (5Z,9E,14Z) double bond stereochemistry, an (11S)-hydroxy substituent and a 14S,15S-epoxy group.


(8S)-hepoxilin A3

A hepoxilin A3 in which the stereocentre at position 8 has S-configuration


hepoxilin A3

A hepoxilin having (5Z,9E,14Z) double bond stereochemistry, an 8-hydroxy substituent and an 11S,12S-epoxy group.


hepoxilin B3

A hepoxilin having (5Z,9E,14Z) double bond stereochemistry, a 10-hydroxy substituent and an (11S,12S)-epoxy group.


name: protein-glutamine gamma-glutamyltransferase E isoform 1 (human)

description: A protein-glutamine gamma-glutamyltransferase E isoform 1 that is encoded in the genome of human.


name: G-protein coupled receptor 183 methylated 1 (human)

description: A G-protein coupled receptor 183 (human) that has been methylated on the residue at the position equivalent to Cys-256 of the amino acid sequence represented by UniProtKB:P32249. UniProtKB:P32249, Cys-256, MOD:00660.


matrilin-2 isoform h4 (human)

A matrilin-2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00339-4.


name: 5'(3')-deoxyribonucleotidase, cytosolic type isoform h2 (human)

description: A 5'(3')-deoxyribonucleotidase, cytosolic type (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TCD5-2.


name: fermitin family homolog 2 isoform h2 (human)

description: A fermitin family homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96AC1-2.


name: F-box/WD repeat-containing protein 7 phosphorylated 2 (human)

description: An F-box/WD repeat-containing protein 7 (human) that has been phosphorylated on the residue at the position equivalent to Ser-372 of the amino acid sequence represented by UniProtKB:Q969H0-1. Example: UniProtKB:Q969H0-1, Ser-372, MOD:00046.


calpain-10 isoform F (human)

A calpain-10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HC96-6.


name: cilia- and flagella-associated protein 91 isoform h8 (human)

description: A cilia- and flagella-associated protein 91 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z4T9-8.


allergin-1 isoform h1 (human)

An allergin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z6M3-1.


A 6-ammonio-5-oxocyclohex-2-ene-1-carboxylate racemate comprising (1R,6S)- and (1S,6R)-6-ammonio-5-oxocyclohex-2-ene-1-carboxylate.


keratin-associated protein 4-7

A protein that is a translation product of the human KRTAP4-7 gene or a 1:1 ortholog thereof.


dysferlin

A protein that is a translation product of the human DYSF gene or a 1:1 ortholog thereof.


dysferlin isoform h8 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-8.


dysferlin isoform h2 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-2.


dysferlin isoform h12 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-12.


dysferlin isoform h15 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-15.


dysferlin isoform h6 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-6.


dysferlin isoform h14 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-14.


dysferlin isoform h1 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-1.


dysferlin isoform h11 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-11.


dysferlin isoform h5 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-5.


dysferlin isoform h4 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-4.


dysferlin isoform h7 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-7.


dysferlin isoform h13 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-13.


dysferlin isoform h9 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-9.


dysferlin isoform h3 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-3.


dysferlin phosphorylated 1 (human)

A dysferlin (human) that has been phosphorylated on the residue at the position equivalent to Ser-1611 of the amino acid sequence represented by UniProtKB:O75923-1. Example: UniProtKB:O75923-1, Ser-1611, MOD:00046.


dysferlin isoform h10 (human)

A dysferlin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75923-10.


name: mothers against decapentaplegic homolog 7 isoform h2 (human)

description: A mothers against decapentaplegic homolog 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15105-2.


name: Myc-associated zinc finger protein isoform h3 (human)

description: A Myc-associated zinc finger protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P56270-3.


name: PAT complex subunit CCDC47 isoform h2 (human)

description: A PAT complex subunit CCDC47 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96A33-2.


name: phospholipase A2 group XV, signal peptide removed form (human)

description: A phospholipase A2 group XV (human) that has had the signal peptide removed. Example: UniProtKB:Q8NCC3-1, 34-412.


name: 3-amino-5-methyl-4-[[3-(4-morpholinyl)propylamino]-oxomethyl]-2-thiophenecarboxylic acid ethyl ester


An N-acyl-1-O-beta-D-glucosyl-4-hydroxy-15-methylhexadecasphinganine in which the acyl group has 28 carbons and 0 double bonds and is 2-hydroxylated.


name: signal transducer and activator of transcription 5B phosphorylated form (human)

description: A signal transducer and activator of transcription 5B (human) that includes at least 1 phosphorylated residue. UniProtKB:P51692, MOD:00696.


name: adhesion G protein-coupled receptor A2 deaminated 1 (human)

description: An adhesion G protein-coupled receptor A2 (human) that has been deaminated on the residue at the position equivalent to Asn-436 of the amino acid sequence represented by UniProtKB:Q96PE1-1. Example: UniProtKB:Q96PE1-1, Asn-436, MOD:00684.


adhesion G protein-coupled receptor A2

An adhesion G-protein coupled receptor that is a translation product of the human ADGRA2 gene or a 1:1 ortholog thereof.


name: adhesion G protein-coupled receptor A2 isoform h2 (human)

description: An adhesion G protein-coupled receptor A2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96PE1-2.


name: adhesion G protein-coupled receptor A2 cysteinylated 1 (human)

description: An adhesion G protein-coupled receptor A2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-146 of the amino acid sequence represented by UniProtKB:Q96PE1-1. Example: UniProtKB:Q96PE1-1, Cys-146, MOD:00765.


name: adhesion G protein-coupled receptor A2 O-glycosylated 2 (human)

description: An adhesion G protein-coupled receptor A2 (human) that has been O-glycosylated at the residue equivalent to Thr-386 of the amino acid sequence represented by UniProtKB:Q96PE1-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:Q96PE1-1, Thr-386, MOD:00005~GNO:G29068FM.


name: adhesion G protein-coupled receptor A2 O-glycosylated 3 (human)

description: An adhesion G protein-coupled receptor A2 (human) that has been O-glycosylated at the residue equivalent to Thr-386 of the amino acid sequence represented by UniProtKB:Q96PE1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q96PE1-1, Thr-386, MOD:00005~GNO:G43417UB.


name: adhesion G protein-coupled receptor A2 isoform h1 (human)

description: An adhesion G protein-coupled receptor A2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96PE1-1.


name: adhesion G protein-coupled receptor A2 O-glycosylated 1 (human)

description: An adhesion G protein-coupled receptor A2 (human) that has been O-glycosylated at the residue equivalent to Ser-387 of the amino acid sequence represented by UniProtKB:Q96PE1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q96PE1-1, Ser-387, MOD:00002~GNO:G43417UB.


name: adhesion G protein-coupled receptor A2 isoform h3 (human)

description: An adhesion G protein-coupled receptor A2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96PE1-3.


name: E3 ubiquitin-protein ligase pellino homolog 3 isoform 2 (human)

description: An E3 ubiquitin-protein ligase pellino homolog 3 isoform 2 that is encoded in the genome of human.


name: bridging integrator 2 isoform h3 (human)

description: A bridging integrator 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UBW5-3.


name: complement factor H N-glycosylated 20 (human)

description: A complement factor H (human) that has been N-glycosylated at the residue equivalent to Asn-802 of the amino acid sequence represented by UniProtKB:P08603-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P08603-1, Asn-802, MOD:00160~GNO:G42358LZ.


name: CCR4-NOT transcription complex subunit 9 isoform h3 (human)

description: A CCR4-NOT transcription complex subunit 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92600-3.


name: equilibrative nucleoside transporter 1 isoform h2 (human)

description: An equilibrative nucleoside transporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99808-2.


name: DNA-directed RNA polymerase III subunit RPC2

description: A protein that is a translation product of the human POLR3B gene or a 1:1 ortholog thereof.


name: DNA-directed RNA polymerase III subunit RPC2 isoform h2 (human)

description: A DNA-directed RNA polymerase III subunit RPC2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NW08-2.


name: DNA-directed RNA polymerase III subunit RPC2 isoform 1 (human)

description: A DNA-directed RNA polymerase III subunit RPC2 isoform 1 that is encoded in the genome of human.


name: DNA-directed RNA polymerase III subunit RPC2 citrullinated 1 (human)

description: A DNA-directed RNA polymerase III subunit RPC2 (human) that has been citrullinated on the residue at the position equivalent to Arg-1105 of the amino acid sequence represented by UniProtKB:Q9NW08-1. Example: UniProtKB:Q9NW08-1, Arg-1105, MOD:00219.


name: heat shock cognate 71 kDa protein cysteinylated 2 (human)

description: A heat shock cognate 71 kDa protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-574 of the amino acid sequence represented by UniProtKB:P11142-1. Example: UniProtKB:P11142-1, Cys-574, MOD:00765.


name: autosomal dominant cerebellar ataxia, deafness and narcolepsy

description: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)

description: A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Ser residue at the position equivalent to Arg-385 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Arg-385, CHEBI:29999.


name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)

description: A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) that has at least one amino acid residue that differs from the corresponding residue found in another methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) when such a difference arises as the result of genetic differences, i.e., different alleles of methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human). Operationally, this means the sequence representation of the methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) has at least one amino acid residue that differs from the equivalent residue found in the sequence represented by UniProtKB:Q96RQ3-1.