{ "uniprot_canonical_ac": "P39876-1", "uniprot_ac": "P39876", "uniprot_id": "TIMP3_MOUSE", "mass": { "chemical_mass": 24182.0, "monoisotopic_mass": 24182.0 }, "refseq": { "ac": "NP_035725", "name": "metalloproteinase inhibitor 3 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725" }, "gene_names": [ { "name": "Timp3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P39876", "id": "P39876" }, { "name": "Sun", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P39876", "id": "P39876" }, { "name": "Timp-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725", "id": "NP_035725" }, { "name": "Timp-3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P39876", "id": "P39876" }, { "name": "Timp3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725", "id": "NP_035725" } ], "protein_names": [ { "name": "Metalloproteinase inhibitor 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P39876" }, { "name": "TIMP-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P39876" }, { "name": "Tissue inhibitor of metalloproteinases 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P39876" }, { "name": "metalloproteinase inhibitor 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725", "id": "NP_035725" }, { "name": "metalloproteinase inhibitor 3; tissue inhibitor of metalloproteinases 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725", "id": "NP_035725" } ], "function": [ { "annotation": "Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli.", "evidence": [ { "database": "UniProtKB", "id": "P39876", "url": "https://www.uniprot.org/uniprot/P39876#function" } ] }, { "annotation": "Pioglitazone Attenuates Lupus Nephritis Symptoms in Mice by Modulating miR-21-5p/TIMP3 Axis: the Key Role of the Activation of Peroxisome Proliferator-Activated Receptor-gamma.", "evidence": [ { "database": "RefSeq", "id": "NP_035725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725" }, { "database": "PubMed", "id": "33604775", "url": "https://glygen.org/publication/PubMed/33604775" } ] }, { "annotation": "The Histone Methyltransferase SETDB2 Modulates Tissue Inhibitors of Metalloproteinase-Matrix Metalloproteinase Activity During Abdominal Aortic Aneurysm Development.", "evidence": [ { "database": "RefSeq", "id": "NP_035725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725" }, { "database": "PubMed", "id": "37325923", "url": "https://glygen.org/publication/PubMed/37325923" } ] } ], "disease": [ { "disease_id": "DOID:0090114", "recommended_name": { "id": "DOID:0090114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090114", "name": "Sorsby's fundus dystrophy", "description": "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0090114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090114", "name": "SFD", "description": "" }, { "id": "DOID:0090114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090114", "name": "hemorrhagic macular dystrophy", "description": "" }, { "id": "DOID:0090114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090114", "name": "pseudoinflammatory fundus dystrophy of Sorsby", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "Sorsby fundus dystrophy", "description": "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "SFD", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "Sorsby fundus dystrophy", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "Sorsby's fundus dystrophy", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "hemorrhagic macular dystrophy", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "pseudoinflammatory fundus dystrophy of Sorsby", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "Sorsby pseudoinflammatory fundus dystrophy", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "Sorsby's pseudoinflammatory macular dystrophy", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "fundus dystrophy, pseudoinflammatory, of Sorsby", "description": "" }, { "id": "MONDO:0007640", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007640", "name": "macular dystrophy, hemorrhagic", "description": "" }, { "id": "MIM:136900", "resource": "MIM", "url": "https://www.omim.org/entry/136900", "name": "Sorsby fundus dystrophy", "description": "Sorsby fundus dystrophy" } ], "evidence": [ { "id": "0090114", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0090114" } ] }, { "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 cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "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:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:14004", "recommended_name": { "id": "DOID:14004", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta." }, "synonyms": [ { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic type 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "AAT7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic dissection, familial, with or without aortic aneurysm", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic 4", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "MYH11 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic 4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic type 4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "AAT4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "FAA4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm/aortic dissection and patent ductus arteriosus", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "ACTA2 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic type 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "AAT6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "AAT2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "FAA2", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic 1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "AAT1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "Erdheim cystic medial necrosis of aorta", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "FAA1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aneurysm, thoracic aortic", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "annuloaortic ectasia", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic dissection, familial", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "PRKG1 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic type 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "AAT8", "description": "" }, { "id": "MIM:613780", "resource": "MIM", "url": "https://www.omim.org/entry/613780", "name": "Aortic aneurysm, familial thoracic 7", "description": "Aortic aneurysm, familial thoracic 7" }, { "id": "MIM:132900", "resource": "MIM", "url": "https://www.omim.org/entry/132900", "name": "Aortic aneurysm, familial thoracic 4", "description": "Aortic aneurysm, familial thoracic 4" }, { "id": "MIM:611788", "resource": "MIM", "url": "https://www.omim.org/entry/611788", "name": "Aortic aneurysm, familial thoracic 6", "description": "Aortic aneurysm, familial thoracic 6" }, { "id": "MIM:615436", "resource": "MIM", "url": "https://www.omim.org/entry/615436", "name": "Aortic aneurysm, familial thoracic 8", "description": "Aortic aneurysm, familial thoracic 8" } ], "evidence": [ { "id": "14004", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ] }, { "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 thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "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": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": 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"https://www.uniprot.org/uniprot/P39876", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P39876-1", "url": "https://www.uniprot.org/uniprot/P39876-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTPWLGLVVLLSCWSLGHWGAEACTCSPSHPQDAFCNSDIVIRAKVVGKKLVKEGPFGTLVYTIKQMKMYRGFSKMPHVQYIHTEASESLCGLKLEVNKYQYLLTGRVYEGKMYTGLCNFVERWDHLTLSQRKGLNYRYHLGCNCKIKSCYYLPCFVTSKNECLWTDMLSNFGYPGYQSKHYACIRQKGGYCSWYRGWAPPDKSISNATDP", "length": 211, "header": "sp|P39876-1|TIMP3_MOUSE Isoform 1 of Metalloproteinase inhibitor 3 OS=Mus musculus OX=10090 GN=Timp3 PE=1 SV=1 CANONICAL=P39876-1" }, "isoforms": [ { "isoform_ac": "E9QAB2-1", "url": "", "sequence": { "sequence": "MPSWAPVIRAKVVGKKLVKEGPFGTLVYTIKQMKMYRGFSKMPHVQYIHT", "length": 50, "header": "tr|E9QAB2-1|TIMP3_MOUSE Computationally mapped isoform of Metalloproteinase inhibitor 3 OS=Mus musculus OX=10090 GN=Timp3 PE=1 SV=1 CANONICAL=P39876-1" }, "locus": { "chromosome": "10", "start_pos": 86179844, "end_pos": 86138919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000132307.2", "url": "https://www.ensembl.org/id/ENSMUST00000132307.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000133236.2", "url": "https://www.ensembl.org/id/ENSMUSP00000133236.2" } ] } }, { "isoform_ac": "P39876-1", "url": "", "sequence": { "sequence": "MTPWLGLVVLLSCWSLGHWGAEACTCSPSHPQDAFCNSDIVIRAKVVGKKLVKEGPFGTLVYTIKQMKMYRGFSKMPHVQYIHTEASESLCGLKLEVNKYQYLLTGRVYEGKMYTGLCNFVERWDHLTLSQRKGLNYRYHLGCNCKIKSCYYLPCFVTSKNECLWTDMLSNFGYPGYQSKHYACIRQKGGYCSWYRGWAPPDKSISNATDP", "length": 211, "header": "sp|P39876-1|TIMP3_MOUSE Isoform 1 of Metalloproteinase inhibitor 3 OS=Mus musculus OX=10090 GN=Timp3 PE=1 SV=1 CANONICAL=P39876-1" }, "locus": { "chromosome": "10", "start_pos": 86181763, "end_pos": 86136718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000020234", "url": "https://www.ensembl.org/id/ENSMUST00000020234" }, { "database": "Ensembl 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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725" } ], "reference": [ { "type": "PubMed", "id": "33604775", "url": "https://glygen.org/publication/PubMed/33604775" } ] }, { "title": "The Histone Methyltransferase SETDB2 Modulates Tissue Inhibitors of Metalloproteinase-Matrix Metalloproteinase Activity During Abdominal Aortic Aneurysm Development.", "journal": "Annals of surgery", "date": "2023-09-01", "authors": "Davis Frank M, Melvin William J, Mangum Kevin, Tsoi Lam C, Joshi Amrita D, Cai Qing, Henke Peter K, Gudjonsson Johann E, Gallagher Katherine A", "evidence": [ { "database": "RefSeq", "id": "NP_035725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035725" } ], "reference": [ { "type": "PubMed", "id": "37325923", "url": "https://glygen.org/publication/PubMed/37325923" } ] }, { "title": "Molecular cloning of mouse tissue inhibitor of metalloproteinases-3 and its promoter. Specific lack of expression in neoplastic JB6 cells may reflect altered gene methylation.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Sun Y, Hegamyer G, Kim H, Sithanandam K, Li H, Watts R, Colburn NH", "evidence": [ { "database": "UniProtKB", "id": "P39876", "url": "https://www.uniprot.org/uniprot/P39876" } ], "reference": [ { "type": "PubMed", "id": "7642607", "url": "https://glygen.org/publication/PubMed/7642607" } ] }, { "title": "The gene structure of tissue inhibitor of metalloproteinases (TIMP)-3 and its inhibitory activities define the distinct TIMP gene family.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Apte SS, Olsen BR, Murphy G", "evidence": [ { "database": "UniProtKB", "id": "P39876", "url": "https://www.uniprot.org/uniprot/P39876" } ], "reference": [ { "type": "PubMed", "id": "7782289", "url": "https://glygen.org/publication/PubMed/7782289" } ] }, { "title": "Gene encoding a novel murine tissue inhibitor of metalloproteinases (TIMP), TIMP-3, is expressed in developing mouse epithelia, cartilage, and muscle, and is located on mouse chromosome 10.", "journal": "Dev. Dyn.", "date": "1994", "authors": "Hayashi K., Hayashi M., Mattei M.-G., Olsen B.R., Apte S.S., Seldin M.F.", "evidence": [ { "database": "UniProtKB", "id": "P39876", "url": "https://www.uniprot.org/uniprot/P39876" } ], "reference": [ { "type": "PubMed", "id": "7949367", "url": "https://glygen.org/publication/PubMed/7949367" } ] }, { "title": "Molecular cloning of five messenger RNAs differentially expressed in preneoplastic or neoplastic JB6 mouse epidermal cells: one is homologous to human tissue inhibitor of metalloproteinases-3.", "journal": "Cancer Res.", "date": "1994", "authors": "Sun Y, Hegamyer G, Colburn NH", "evidence": [ { "database": "UniProtKB", "id": "P39876", "url": "https://www.uniprot.org/uniprot/P39876" } ], "reference": [ { "type": "PubMed", "id": "8118794", "url": "https://glygen.org/publication/PubMed/8118794" } ] }, { "title": "Tissue inhibitor of metalloproteinases-3 (TIMP-3) is an extracellular matrix-associated protein with a distinctive pattern of expression in mouse cells and tissues.", "journal": "J. Biol. Chem.", "date": "1994", "authors": "Edwards D.R., Pavloff N., Hawkes S.P., Khokha R., Leco K.J.", "evidence": [ { "database": "UniProtKB", "id": "P39876", "url": "https://www.uniprot.org/uniprot/P39876" } ], "reference": [ { "type": "PubMed", "id": "8132674", "url": "https://glygen.org/publication/PubMed/8132674" } ] } ], "pathway": [ { "id": "mmu:21859", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:21859", "resource": "KEGG Pathway" }, { "id": "R-MMU-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-114608", "resource": "Reactome", "description": "Platelet degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "P35625-1", "protein_name": "Metalloproteinase inhibitor 3", "gene_name": "TIMP3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": 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