{ "uniprot_canonical_ac": "P41350-1", "uniprot_ac": "P41350", "uniprot_id": "CAV1_RAT", "mass": { "chemical_mass": 20553.0, "monoisotopic_mass": 20553.0 }, "refseq": {}, "gene_names": [ { "name": "Cav1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P41350", "id": "P41350" }, { "name": "Cav", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P41350", "id": "P41350" } ], "protein_names": [ { "name": "Caveolin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P41350" } ], "function": [ { "annotation": "May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (By similarity). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (By similarity). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350#function" }, { "database": "UniProtKB", "id": "Q03135", "url": "https://www.uniprot.org/uniprot/Q03135#function" }, { "database": "UniProtKB", "id": "P49817", "url": "https://www.uniprot.org/uniprot/P49817#function" } ] }, { "annotation": "May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity.", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6A884", "url": "https://www.uniprot.org/uniprot/A0A8I6A884#function" }, { "database": "UniProtKB", "id": "RU000680", "url": "https://www.uniprot.org/uniprot/RU000680#function" }, { "database": "UniProtKB", "id": "A0A8I6AS98", "url": "https://www.uniprot.org/uniprot/A0A8I6AS98#function" }, { "database": "UniProtKB", "id": "A0A0G2K682", "url": "https://www.uniprot.org/uniprot/A0A0G2K682#function" } ] } ], "disease": [ { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "evidence": [ { "id": "0050440", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0111137", "recommended_name": { "id": "DOID:0111137", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111137", "name": "congenital generalized lipodystrophy type 3", "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2." }, "synonyms": [ { "id": "DOID:0111137", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111137", "name": "Berardinelli-Seip congenital lipodystrophy type 3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "congenital generalized lipodystrophy type 3", "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "BSCL3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "Berardinelli-Seip congenital lipodystrophy type 3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "CAV1 congenital generalised lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "CAV1 congenital generalized lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "CGL3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "congenital generalised lipodystrophy (disease) caused by mutation in CAV1", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "congenital generalized lipodystrophy (disease) caused by mutation in CAV1", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "Berardinelli-Seip congenital lipodystrophy, type 3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "lipodystrophy, Berardinelli-Seip congenital, type 3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "lipodystrophy, congenital generalized, type 3", "description": "" }, { "id": "MONDO:0012923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012923", "name": "type 3 Berardinelli-Seip congenital lipodystrophy", "description": "" }, { "id": "MIM:612526", "resource": "MIM", "url": "https://www.omim.org/entry/612526", "name": "Congenital generalized lipodystrophy 3", "description": "Congenital generalized lipodystrophy 3" } ], "evidence": [ { "id": "0111137", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111137" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate 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leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "obsolete glaucoma 1, open angle, E", "description": "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:11446", "recommended_name": { "id": "DOID:11446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11446", "name": "sciatic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "11446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ] }, { "disease_id": "DOID:11984", "recommended_name": { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." }, "synonyms": [ { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic obstructive cardiomyopathy", "description": "" } ], "evidence": [ { "id": "11984", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ] }, { "disease_id": "DOID:12689", "recommended_name": { "id": "DOID:12689", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12689", "name": "acoustic neuroma", "description": "" }, "synonyms": [ { "id": "DOID:12689", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12689", "name": "Vestibular Neurilemmoma", "description": "" }, { "id": "DOID:12689", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12689", "name": "Vestibular schwannoma", "description": "" } ], "evidence": [ { "id": "12689", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ] }, { "disease_id": "DOID:127", "recommended_name": { "id": "DOID:127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells." }, "synonyms": [ { "id": "DOID:127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:127", "name": "leiomyomatous neoplasm", "description": "" }, { "id": "DOID:127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:127", "name": "leiomyomatous tumor", "description": "" } ], "evidence": [ { "id": "127", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:127" } ] }, { "disease_id": "DOID:14557", "recommended_name": { "id": "DOID:14557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." }, "synonyms": [ { "id": "DOID:14557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14557", "name": "Idiopathic pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "KCNK3 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "primary pulmonary hypertension caused by mutation in KCNK3", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, type 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "PPH4", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "CAV1 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "primary pulmonary hypertension caused by mutation in CAV1", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, type 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "PPH3", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary 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"name": "pulmonary hypertension, primary, 1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PPH1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "Pph1 with Hht", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, Dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, Fenfluramine-associated", "description": "" }, { "id": "MIM:265400", "resource": "MIM", "url": "https://www.omim.org/entry/265400", "name": "Pulmonary hypertension, primary, 5", "description": "Pulmonary hypertension, primary, 5" }, { "id": "MIM:615344", "resource": "MIM", "url": "https://www.omim.org/entry/615344", "name": "Pulmonary hypertension, primary, 4", "description": "Pulmonary hypertension, primary, 4" }, { "id": "MIM:615343", "resource": "MIM", "url": "https://www.omim.org/entry/615343", "name": "Pulmonary hypertension, primary, 3", "description": "Pulmonary hypertension, primary, 3" }, { "id": "MIM:615342", "resource": "MIM", "url": "https://www.omim.org/entry/615342", "name": "Pulmonary hypertension, primary, 2", "description": "Pulmonary hypertension, primary, 2" }, { "id": "MIM:178600", "resource": "MIM", "url": "https://www.omim.org/entry/178600", "name": "Pulmonary hypertension, primary, 1", "description": "Pulmonary hypertension, primary, 1" } ], "evidence": [ { "id": "14557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ] }, { "disease_id": "DOID:1459", "recommended_name": { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone." }, "synonyms": [ { "id": "DOID:1459", "resource": "Disease Ontology", 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"database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ] }, { "disease_id": "DOID:1580", "recommended_name": { "id": "DOID:1580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1580", "name": "diffuse scleroderma", "description": "" }, "synonyms": [ { "id": "DOID:1580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1580", "name": "diffuse systemic sclerosis", "description": "" }, { "id": "DOID:1580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1580", "name": "systemic sclerosis, diffuse", "description": "" } ], "evidence": [ { "id": "1580", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A 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"https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1909", "recommended_name": { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." }, "synonyms": [ { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "Naevocarcinoma", "description": "" }, { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "malignant melanoma", "description": "" } ], "evidence": [ { "id": "1909", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ] }, { "disease_id": "DOID:1936", "recommended_name": { "id": "DOID:1936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1936", "name": "atherosclerosis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1936", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by 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"https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:2316", "recommended_name": { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand." }, "synonyms": [ { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischaemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "cerebral ischemia", "description": "" } ], "evidence": [ { "id": "2316", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ] }, { 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"https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "intracellular nitric oxide homeostasis", "id": "GO:0033484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033484", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": 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"url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": 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"https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P41350", "url": "https://www.uniprot.org/uniprot/P41350" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { 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