{ "uniprot_canonical_ac": "A0A8I6G641-1", "uniprot_ac": "A0A8I6G641", "uniprot_id": "A0A8I6G641_RAT", "mass": { "chemical_mass": 215168.0, "monoisotopic_mass": 215168.0 }, "refseq": {}, "gene_names": [ { "name": "Ep300", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I6G641", "id": "A0A8I6G641" }, { "name": "p300", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I6G641", "id": "A0A8I6G641" } ], "protein_names": [ { "name": "histone acetyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A8I6G641" }, { "name": "2.3.1.48", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A8I6G641" } ], "function": [], "disease": [ { "disease_id": "DOID:0050156", "recommended_name": { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung." }, "synonyms": [ { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "FIBROCYSTIC PULMONARY DYSPLASIA", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial lung disease 2", "description": "A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "CFA", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "ILD2", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "IPF", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "UIP", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrocystic pulmonary dysplasia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis, cryptogenic", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "idiopathic pulmonary fibrosis, familial", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial pneumonitis, usual", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "usual interstitial pneumonia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "Hamman-rich disease", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "familial idiopathic pulmonary fibrosis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "pulmonary fibrosis, idiopathic", "description": "" }, { "id": "MIM:178500", "resource": "MIM", "url": "https://www.omim.org/entry/178500", "name": "Interstitial lung disease 2", "description": "Interstitial lung disease 2" } ], "evidence": [ { "id": "0050156", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ] }, { "disease_id": "DOID:0050700", "recommended_name": { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." }, "synonyms": [ { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "Cardiomyopathies", "description": "" } ], "evidence": [ { "id": "0050700", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ] }, { "disease_id": "DOID:0060319", "recommended_name": { "id": "DOID:0060319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060319", "name": "cardiac arrest", "description": "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all." }, "synonyms": [ { "id": "DOID:0060319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060319", "name": "cardiopulmonary arrest", "description": "" }, { "id": "DOID:0060319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060319", "name": "circulatory arrest", "description": "" } ], "evidence": [ { "id": "0060319", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060319" } ] }, { "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:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and 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: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:114", "recommended_name": { "id": "DOID:114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart." }, "synonyms": [], "evidence": [ { "id": "114", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:114" } ] }, { "disease_id": "DOID:1933", "recommended_name": { "id": "DOID:1933", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1933", "name": "Rubinstein-Taybi syndrome", "description": "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes." }, "synonyms": [ { "id": "DOID:1933", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1933", "name": "Broad Thumb-Hallux syndrome", "description": "" }, { "id": "DOID:1933", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1933", "name": "Rubinstein syndrome", "description": "" }, { "id": "DOID:1933", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1933", "name": "proximal chromosome 16p13.3 deletion syndrome", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "Rubinstein-Taybi syndrome due to CREBBP mutations", "description": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "CREBBP Rubinstein-Taybi syndrome", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "RSTS1", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "Rubinstein-Taybi syndrome 1", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "Rubinstein-Taybi syndrome caused by mutation in CREBBP", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "Rubinstein-Taybi syndrome due to CREBBP mutations", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "Rubinstein-Taybi syndrome type 1", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "RSTS", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "Rubinstein syndrome", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "broad thumb-hallux syndrome", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "broad thumbs and great toes, characteristic facies, and intellectual disability", "description": "" }, { "id": "MONDO:0008393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008393", "name": "broad thumbs and great toes, characteristic facies, and mental retardation", "description": "" }, { "id": "MONDO:0012519", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012519", "name": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion", "description": "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." }, { "id": "MONDO:0012519", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012519", "name": "16p13.3 deletion syndrome", "description": "" }, { "id": "MONDO:0012519", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012519", "name": "Rsts deletion syndrome", "description": "" }, { "id": "MONDO:0012519", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012519", "name": "Rubinstein-Taybi deletion syndrome", "description": "" }, { "id": "MONDO:0012519", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012519", "name": "chromosome 16p13.3 deletion syndrome", "description": "" }, { "id": "MONDO:0012519", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012519", "name": "chromosome 16p13.3 deletion syndrome, proximal", "description": "" }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "description": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "EP300 Rubinstein-Taybi syndrome", "description": "" }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "Rubinstein-Taybi syndrome caused by mutation in EP300", "description": "" }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "description": "" }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "Rubinstein-Taybi syndrome type 2", "description": "" }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "RSTS2", "description": "" }, { "id": "MONDO:0013364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013364", "name": "Rubinstein-Taybi syndrome 2", "description": "" }, { "id": "MIM:180849", "resource": "MIM", "url": "https://www.omim.org/entry/180849", "name": "Rubinstein-Taybi syndrome 1", "description": "Rubinstein-Taybi syndrome 1" }, { "id": "MIM:613684", "resource": "MIM", "url": "https://www.omim.org/entry/613684", "name": "Rubinstein-Taybi syndrome 2", "description": "Rubinstein-Taybi syndrome 2" } ], "evidence": [ { "id": "1933", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1933" } ] }, { "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 ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:2920", "recommended_name": { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "" }, "synonyms": [ { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "Lobular glomerulonephritis", "description": "" }, { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "chronic glomerulonephritis, lobular", "description": "" }, { "id": "MONDO:0010596", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010596", "name": "membranoproliferative glomerulonephritis, X-linked", "description": "" }, { "id": "MONDO:0010596", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010596", "name": "membranoproliferative glomerulonephritis, X-linked", "description": "" }, { "id": "MONDO:0010596", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010596", "name": "Mesangiocapillary glomerulonephritis, X-linked", "description": "" } ], "evidence": [ { "id": "2920", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ] }, { "disease_id": "DOID:2921", "recommended_name": { "id": "DOID:2921", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney." }, "synonyms": [], "evidence": [ { "id": "2921", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ] }, { "disease_id": "DOID:3459", "recommended_name": { "id": "DOID:3459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:3459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3459", "name": "Mammary carcinoma", "description": "" }, { "id": "DOID:3459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3459", "name": "carcinoma of breast", "description": "" } ], "evidence": [ { "id": "3459", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ] }, { "disease_id": "DOID:3827", "recommended_name": { "id": "DOID:3827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." }, "synonyms": [ { "id": "DOID:3827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3827", "name": "Diaphragmatic Hernia", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia, congenital 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hernia, congenital diaphragmatic 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "DIH1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragm, complete agenesis of", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragm, unilateral agenesis of", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic defect, congenital", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia, congenital", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hemidiaphragm, agenesis of", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hernia, congenital diaphragmatic", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "diaphragmatic hernia 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "diaphragmatic hernia 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "hernia, congenital diaphragmatic 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "DIH2", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia 3", "description": "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "ZFPM2 congenital diaphragmatic hernia", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "congenital diaphragmatic hernia caused by mutation in ZFPM2", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia 3", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia type 3", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "DIH3", "description": "" }, { "id": "MIM:610187", "resource": "MIM", "url": "https://www.omim.org/entry/610187", "name": "Diaphragmatic hernia 3", "description": "Diaphragmatic hernia 3" } ], "evidence": [ { "id": "3827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ] }, { "disease_id": "DOID:4467", "recommended_name": { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope." }, "synonyms": [ { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "Clear cell carcinoma of kidney", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "clear cell kidney carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "conventional (Clear cell) renal cell carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "conventional renal cell carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "renal clear cell carcinoma", "description": "" } ], "evidence": [ { "id": "4467", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02337", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05495", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05495", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15646", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15646", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15802", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15802", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd20910", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20910", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "IPR000197", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000197", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000433", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000433", 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"database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00569", "url": "http://pfam.xfam.org/family/PF00569", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02135", "url": "http://pfam.xfam.org/family/PF02135", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02172", "url": "http://pfam.xfam.org/family/PF02172", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06001", "url": "http://pfam.xfam.org/family/PF06001", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08214", "url": "http://pfam.xfam.org/family/PF08214", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09030", "url": "http://pfam.xfam.org/family/PF09030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "620036", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=620036", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2QC09", "url": "https://www.uniprot.org/uniprot/A0A0G2QC09", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2QC09-1", "url": "https://www.uniprot.org/uniprot/A0A0G2QC09-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6G641-1", "url": "https://www.uniprot.org/uniprot/A0A8I6G641-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q91XT0", "url": "https://www.uniprot.org/uniprot/Q91XT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q91XT0-1", "url": "https://www.uniprot.org/uniprot/Q91XT0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLSDYPIQVNQIPPQPPVQAKNQQSQPSGQSPQGMRSMNNMSASPMGVNGGVGVQTPNLLSDSMLHSTINSQNPMMNENASVASLGPLPTAAQPSSTGIRKQWHEDITQDLRNHLVHKLVQAIFPTPDPAALKDRRMENLVAYARKVEGDMYESANNRAEYYHLLAEKIYKIQKELEEKRRTRLQKQNMLPSAPGMVPVPMNTAPNMGQQPTGMTTNGPLPDPSMIRGSVPNQMMPRMTPQPGLNQFGQMNIPQPPIGPRQPSPLQHHGQLAQSGSLNPPMGYGPRMQQTSGQNQFLSQTQFPSQGMNVTNMPLAPSSSQAPVSQAQMSSSSCPVNSPIMPPGSQGSHIHCPTLPQQAHQNSPSPVPSRTPTPHHTPPSIGTQQPAATAIPAPVPTPPAMPPGAQPQSLRPPSRQTPTPPTHLPPQVQPSLPVPPADQSQPQPRSQQSTAASVPTPTAPLLPPQPPTPLSQPAVSVEGQVSNPPSTSSTEVNSQTIPEKQPSQEVKMEVKMDVDQPEPADAQPDDTKEAKAEDGKVEPTETEERGPELKTEVKEEEDQPSTSAAQSSPAPGQSKKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVDPQLLGIPDYFDIVKSPMDLSTIKRKLDTGQYQEPWQYIDDIWLMFNNAWLYNRKTSRVYKYCSKLSEVFEQEIDPVMQSLGYCCGRKLEFSPQTLCCYGKQLCTIPRDATYYSYQNRYHFCEKCFNEIQGESVSLGDDPSQPQTTINKEQFSKRKNDTLDPELFVECTECGRKMHQICVLHHEVIWPSGFVCDGCLKKTARTRKENKFSAKRLPSTRLGTFLENRVNDFLRRQNHPESGEVTVRVVHASDKTVEVKPGMKARFVDSGEMAESFPYRTKALFAFEEIDGVDLCFFGMHVQEYGSDCPPPNQRRVYISYLDSVHFFRPKCLRTAVYHEILIGYLEYVKKLGYTTGHIWACPPSEGDDYIFHCHPPDQKIPKPKRLQEWYKKMLDKAVSERIVHDYKDILKQATEDRLTSAKELPYFEGDFWPNVLEESIKELEQEEEERKREENTSNESTDVTKGDSKNAKKKNNKKTSKNKSSLSRGNKKKPGVPNVSNDLSQKLYATMEKHKEVFFVIRLIACPAPNSLPPIVDPDPLIPCDLMDGRDAFLTLARDKHLEFSSLRRAQWSTMCMLVELHTQSQDRFVYTCNECKHHVETRWHCTVCEDYDLCITCYNTKNHDHKMEKLGLGLDDESNNQQAAATQSPGDSRRLSIQRCIQSLVHACQCRNANCSLPSCQKMKRVVQHTKGCKRKTNGGCPICKQLIALCCYHAKHCQENKCPVPFCLNIKQKLRQQQLQHRLQQAQMLRRRMASMQRTGVAGQQQGLPSPTPATPTTPTGQQPATPQTPQPQPTSQPQPTPPNNMTPYLPRTQTAGPVSQGKAAGQVTPPTPPQTAQPPLPGPPPAAVEMAMQIQRAAETQRQMAHVQIFQRPIQHQMAPMAPMGMNPPPMARGPGGHLDPGMGPAGMQQQPPWAQGGMPQPQQMQSGMPRPAMMSVAQHGQPLNMAPQPGLGQVGVSPLKPGTVSQQALQNLLRTLRSPSSPLQQQQVLSILHANPQLLAAFIKQRAAKYANSNPQPLPGQPGMPQGQPGLQPPTMPGQQGVHSNPALQNMNPMQAGVQRAGLPQQQPQQQLQPPMGGMSPQAQQMNMNHNTMPSQFRDILRRQMMQQQGAGPGIGPGMANHNQFQQPQGIGYPPQQQQQQQQQRMQHHMQQMQQGNMGQMGQLPQALGAEAGASLQAYQQRLLQQQMGSPAQPNPMSPQQHMLPNQAQSPHLQGQQIPNSLSNQVRSPQPVPSPRPQSQPPHSSPSPRMQPQPSPHHVSPQTSSPHPGLVAAQAANPMEQGHFASPDQNSMLSQLASNPGMANLHGASATDLGLSADSADLSSNLSQSTLDIH", "length": 1945, "header": "tr|A0A8I6G641-1|A0A8I6G641_RAT Isoform 1 of histone acetyltransferase OS=Rattus norvegicus OX=10116 GN=Ep300 PE=1 SV=1 CANONICAL=A0A8I6G641-1" }, "isoforms": [ { "isoform_ac": "A0A0G2QC09-1", "url": "", "sequence": { "sequence": "SSSPSHGGLQPSVMRPKALFWYFGSLFDLEHDLPDELINSTELGLTNGGDISQLQTSLGIVQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMASQAQQNSPGLSLINSMVKSPMAQTGLTSPNMGMGSSGPNQGPTQSTAGMMNSPVNQPAMGMNTGMNAGMNPGMLAAGNGQGIMPNQVMNGSIGAGRGRPNMQYPNAGMGNAGSLLTEPLQQGSPQMGGQPGLRGPQSHKMGMMSNPTPYGSPYTQNSGQQIGASGLGLQIQTKTVLPNNLSPFAMDKKAVTGGGMANSLPPSVQQPAHTADPEKRKLIQQQLVLLLHAHKCQRREQANGEVRQCNLPHCRTMKNVLNHYDTLSVRQILSR", "length": 365, "header": "tr|A0A0G2QC09-1|A0A0G2QC09_RAT Computationally mapped isoform of histone acetyltransferase OS=Rattus norvegicus OX=10116 GN=Ep300 PE=4 SV=2 CANONICAL=A0A8I6G641-1" }, "locus": { "chromosome": "7", "start_pos": 113136085, "end_pos": 113124023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000000206.8", "url": "https://www.ensembl.org/id/ENSRNOT00000000206.8" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000000206.8", "url": "https://www.ensembl.org/id/ENSRNOP00000000206.8" } ] } }, { "isoform_ac": "A0A8I6G641-1", "url": "", "sequence": { "sequence": 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"length": 1945, "header": "tr|A0A8I6G641-1|A0A8I6G641_RAT Isoform 1 of histone acetyltransferase OS=Rattus norvegicus OX=10116 GN=Ep300 PE=1 SV=1 CANONICAL=A0A8I6G641-1" }, "locus": { "chromosome": "7", "start_pos": 113177445, "end_pos": 113138890, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000115202.1", "url": "https://www.ensembl.org/id/ENSRNOT00000115202.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000081554.1", "url": "https://www.ensembl.org/id/ENSRNOP00000081554.1" } ] } }, { "isoform_ac": "Q91XT0-1", "url": "", "sequence": { "sequence": "MAENVVEPGPPSAKRPKLSSPALSASASDGTDFGSLFDLEHDLPDELINSTELGLTNGGDISQLQTSLGIVQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMASQAQQNSPGLSLINSMVKSPMAQTGLTSPNMGMGSSGPNQGPTQSTAGMMNSPVNQPAMGMNTGMNAGMNPGMLAAGNGQGIMPNQVMNGSIGAGRGRPNMQYPNAGMGNAGSLLTEPLQQGSPQMGGQPGLRGPQSHKMGMMSNPTPYGSPYTQNSGQQIGASGLGLQIQTKTVLPNNLSPFAMDKKAVTGGGMPNMGQQPTPSVQQPGLVNPVAPGMGSGAHTADPEKRKLIQQQLVLLLHAHKCQ", "length": 353, "header": "tr|Q91XT0-1|Q91XT0_RAT Computationally mapped isoform of histone acetyltransferase OS=Rattus norvegicus OX=10116 GN=Ep300 PE=2 SV=1 CANONICAL=A0A8I6G641-1" }, "locus": { "chromosome": "7", "start_pos": 113135971, "end_pos": 113108682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000101270.1", "url": "https://www.ensembl.org/id/ENSRNOT00000101270.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000090584.1", "url": "https://www.ensembl.org/id/ENSRNOP00000090584.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Major intestinal coactivator p300 strongly activates peroxisome proliferator-activated receptor in intestinal cell line, Caco-2.", "journal": "Gene", "date": "2002", "authors": "Mochizuki K., Sakaguchi N., Takase S., Goda T., Suruga K.", "evidence": [ { "database": "UniProtKB", "id": "Q91XT0", "url": "https://www.uniprot.org/uniprot/Q91XT0" } ], "reference": [ { "type": "PubMed", "id": "12095700", "url": "https://glygen.org/publication/PubMed/12095700" } ] } ], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 102, "go_terms": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "internal protein amino acid acetylation", "id": "GO:0006475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006475", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "macrophage derived foam cell differentiation", "id": "GO:0010742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010742", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "peptidyl-lysine propionylation", "id": "GO:0061921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061921", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "regulation of tubulin deacetylation", "id": "GO:0090043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090043", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "peptidyl-lysine crotonylation", "id": "GO:0140066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140066", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "peptidyl-lysine butyrylation", "id": "GO:0140067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140067", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of protein acetylation", "id": "GO:1901985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901985", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide-mediated programmed cell death", "id": "GO:1901300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901300", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of cellular response to hypoxia", "id": "GO:1900039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900039", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "negative regulation of miRNA metabolic process", "id": "GO:2000629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000629", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of protein binding", "id": "GO:0032092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032092", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of DNA-binding transcription factor activity", "id": "GO:0051091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051091", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of NF-kappaB transcription factor activity", "id": "GO:0051092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051092", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of NIK/NF-kappaB signaling", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "negative regulation of cysteine-type endopeptidase activity involved in apoptotic process", "id": "GO:0043154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043154", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "regulation of angiotensin metabolic process", "id": "GO:0060177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060177", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "protein kinase B signaling", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to organic cyclic compound", "id": "GO:0071407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071407", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to cobalt ion", "id": "GO:0032025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032025", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to antibiotic", "id": "GO:0071236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071236", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of histone acetylation", "id": "GO:0035066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035066", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to trichostatin A", "id": "GO:0035984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035984", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "internal peptidyl-lysine acetylation", "id": "GO:0018393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018393", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of DNA binding", "id": "GO:0043388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043388", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "N-terminal peptidyl-lysine acetylation", "id": "GO:0018076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018076", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation by host of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding", "id": "GO:1905636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905636", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "cellular response to mineralocorticoid stimulus", "id": "GO:0071389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071389", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "histone H3 acetylation", "id": "GO:0043966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043966", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "peptidyl-lysine acetylation", "id": "GO:0018394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018394", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of sarcomere organization", "id": "GO:0060298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060298", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of glycoprotein biosynthetic process", "id": "GO:0010560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010560", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "protein-DNA complex assembly", "id": "GO:0065004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065004", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "positive regulation of muscle atrophy", "id": "GO:0014737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014737", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "thigmotaxis", "id": "GO:0001966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001966", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "behavioral defense response", "id": "GO:0002209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002209", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "swimming", "id": "GO:0036268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036268", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 46, "go_terms": [ { "name": "STAT family protein binding", "id": "GO:0097677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097677", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "peptide-lysine-N-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "protein propionyltransferase activity", "id": "GO:0061920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061920", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "peptide butyryltransferase activity", "id": "GO:0140065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140065", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "histone crotonyltransferase activity", "id": "GO:0140068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140068", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "histone butyryltransferase activity", "id": "GO:0140069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140069", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6G641", "url": "https://www.uniprot.org/uniprot/A0A8I6G641" } ], "pmid": "" }, { "name": 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