{ "uniprot_canonical_ac": "P37238-1", "uniprot_ac": "P37238", "uniprot_id": "PPARG_MOUSE", "mass": { "chemical_mass": 57598.0, "monoisotopic_mass": 57598.0 }, "refseq": { "ac": "NP_035276", "name": "peroxisome proliferator-activated receptor gamma isoform 2", "summary": "This gene encodes a nuclear receptor protein belonging to the peroxisome proliferator-activated receptor (Ppar) family. The encoded protein is a ligand-activated transcription factor that is involved in the regulation of adipocyte differentiation and glucose homeostasis. The encoded protein forms a heterodimer with retinoid X receptors and binds to DNA motifs termed 'peroxisome proliferator response elements' to either activate or inhibit gene expression. Mice lacking the encoded protein die at an embryonic stage due to severe defects in placental vascularization. When the embryos lacking this gene are supplemented with healthy placentas, the mutants survive to term, but succumb to lipodystrophy and multiple hemorrhages. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" }, "gene_names": [ { "name": "Pparg", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P37238", "id": "P37238" }, { "name": "Nr1c3; PPAR-gamma; PPAR-gamma2; PPARgamma; PPARgamma2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802", "id": "NP_001120802" }, { "name": "Nr1c3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P37238", "id": "P37238" }, { "name": "PPARG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P37238", "id": "P37238" }, { "name": "Pparg", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802", "id": "NP_001120802" } ], "protein_names": [ { "name": "Peroxisome proliferator-activated receptor gamma", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P37238" }, { "name": "Nuclear receptor subfamily 1 group C member 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P37238" }, { "name": "PPAR-gamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P37238" }, { "name": "peroxisome proliferator activated receptor gamma 2; peroxisome proliferator activated receptor gamma 4; nuclear receptor subfamily 1 group C member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276", "id": "NP_035276" }, { "name": "peroxisome proliferator-activated receptor gamma isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802", "id": "NP_001120802" }, { "name": "peroxisome proliferator-activated receptor gamma isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276", "id": "NP_035276" } ], "function": [ { "annotation": "Maternal obesity attenuates PPARgamma nuclear migration impairing offspring adipogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" }, { "database": "PubMed", "id": "37486764", "url": "https://glygen.org/publication/PubMed/37486764" }, { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" } ] }, { "annotation": "Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. May play a role in the regulation of circadian rhythm.", "evidence": [ { "database": "UniProtKB", "id": "M1VPI1", "url": "https://www.uniprot.org/uniprot/M1VPI1#function" }, { "database": "UniProtKB", "id": "RU364110", "url": "https://www.uniprot.org/uniprot/RU364110#function" }, { "database": "UniProtKB", "id": "Q6GU14", "url": "https://www.uniprot.org/uniprot/Q6GU14#function" }, { "database": "UniProtKB", "id": "A0A0N4SV67", "url": "https://www.uniprot.org/uniprot/A0A0N4SV67#function" }, { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238#function" }, { "database": "PubMed", "id": "19041764", "url": "https://glygen.org/publication/PubMed/19041764" }, { "database": "PubMed", "id": "18719582", "url": "https://glygen.org/publication/PubMed/18719582" }, { "database": "PubMed", "id": "21035761", "url": "https://glygen.org/publication/PubMed/21035761" }, { "database": "PubMed", "id": "23525231", "url": "https://glygen.org/publication/PubMed/23525231" }, { "database": "PubMed", "id": "27197753", "url": "https://glygen.org/publication/PubMed/27197753" }, { "database": "PubMed", "id": "21994940", "url": "https://glygen.org/publication/PubMed/21994940" }, { "database": "UniProtKB", "id": "A0A0N4SVF8", "url": "https://www.uniprot.org/uniprot/A0A0N4SVF8#function" } ] }, { "annotation": "PPARG stimulation restored lung mRNA expression of core clock, inflammation- and metabolism-related genes disrupted by reversed feeding in male mice.", "evidence": [ { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" }, { "database": "PubMed", "id": "37704580", "url": "https://glygen.org/publication/PubMed/37704580" }, { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" } ] }, { "annotation": "PPARgamma Acetylation in Adipocytes Exacerbates BAT Whitening and Worsens Age-Associated Metabolic Dysfunction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" }, { "database": "PubMed", "id": "37408258", "url": "https://glygen.org/publication/PubMed/37408258" }, { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" } ] }, { "annotation": "PPARgamma activation modulates the balance of peritoneal macrophage populations to suppress ovarian tumor growth and tumor-induced immunosuppression.", "evidence": [ { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" }, { "database": "PubMed", "id": "37586764", "url": "https://glygen.org/publication/PubMed/37586764" }, { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" } ] }, { "annotation": "This gene encodes a nuclear receptor protein belonging to the peroxisome proliferator-activated receptor (Ppar) family. The encoded protein is a ligand-activated transcription factor that is involved in the regulation of adipocyte differentiation and glucose homeostasis. The encoded protein forms a heterodimer with retinoid X receptors and binds to DNA motifs termed 'peroxisome proliferator response elements' to either activate or inhibit gene expression. Mice lacking the encoded protein die at an embryonic stage due to severe defects in placental vascularization. When the embryos lacking this gene are supplemented with healthy placentas, the mutants survive to term, but succumb to lipodystrophy and multiple hemorrhages. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" }, { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" } ] } ], "disease": [ { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "evidence": [ { "id": "0050440", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ] }, { "disease_id": "DOID:0050850", "recommended_name": { "id": "DOID:0050850", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050850", "name": "diabetic encephalopathy", "description": "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." }, "synonyms": [], "evidence": [ { "id": "0050850", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050850" } ] }, { "disease_id": "DOID:0050851", "recommended_name": { "id": "DOID:0050851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." }, "synonyms": [], "evidence": [ { "id": "0050851", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ] }, { "disease_id": "DOID:0060611", "recommended_name": { "id": "DOID:0060611", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease." }, "synonyms": [ { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "abdominal obesity-metabolic syndrome 1", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "dysmetabolic syndrome X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome type X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "AOMS1", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "abdominal obesity metabolic syndrome", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "abdominal obesity-metabolic syndrome quantitative trait locus 1", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome 10", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome, protection against", "description": "" } ], "evidence": [ { "id": "0060611", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ] }, { "disease_id": "DOID:0070204", "recommended_name": { "id": "DOID:0070204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070204", "name": "familial partial lipodystrophy type 3", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25." }, "synonyms": [ { "id": "DOID:0070204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070204", "name": "familial partial lipodystrophy associated with PPARG mutations", "description": "" }, { "id": "DOID:0070204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070204", "name": "FPLD3", "description": "" }, { "id": "DOID:0070204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070204", "name": "PPARG-related FPLD", "description": "" }, { "id": "DOID:0070204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070204", "name": "PPARG-related familial partial lipodystrophy", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "PPARG-related familial partial lipodystrophy", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "FPLD3", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "PPARG-related FPLD", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "familial partial lipodystrophy type 3", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "familial partial lipodystrophy associated with PPARG mutations", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "lipodystrophy, familial partial, associated with Pparg mutations", "description": "" }, { "id": "MONDO:0011448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011448", "name": "lipodystrophy, familial partial, type 3", "description": "" }, { "id": "MIM:604367", "resource": "MIM", "url": "https://www.omim.org/entry/604367", "name": "Lipodystrophy, familial partial, 3", "description": "Lipodystrophy, familial partial, 3" } ], "evidence": [ { "id": "0070204", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070204" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease, adult, type I", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease, formerly", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1 with or without polycystic liver disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease, adult", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease, adult, type 1", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "evidence": [ { "id": "0080322", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0081120", "recommended_name": { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes." }, "synonyms": [ { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "Graves orbitopathy", "description": "" }, { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "Thyroid associated ophthalmopathy", "description": "" }, { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "thyroid eye disease", "description": "" } ], "evidence": [ { "id": "0081120", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ] }, { "disease_id": "DOID:0111136", "recommended_name": { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "congenital generalized lipodystrophy type 2", "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3." }, "synonyms": [ { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "Berardinelli-Seip congenital lipodystrophy type 2", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "Berardinelli-Seip syndrome", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "Brunzell syndrome BSCL2-related", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "CGL2", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "congenital lipoatrophic diabetes", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "total lipodystrophy and acromegaloid gigantism", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital generalized lipodystrophy type 2", "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "BSCL2 congenital generalised lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "BSCL2 congenital generalized lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli-Seip congenital lipodystrophy type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli-Seip syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Brunzell syndrome BSCL2-related", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "CGL2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital lipoatrophic diabetes", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "total lipodystrophy and acromegaloid gigantism", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "BSCL2-related Brunzell syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli Seip congenital lipodystrophy type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli-Seip congenital lipodystrophy, type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Brunzell syndrome, BSCL2-related", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Seip syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipoatrophic diabetes, congenital", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipodystrophy, Berardinelli-Seip congenital, type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipodystrophy, congenital generalized, type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipodystrophy, total, and acromegaloid gigantism", "description": "" }, { "id": "MIM:269700", "resource": "MIM", "url": "https://www.omim.org/entry/269700", "name": "Congenital generalized lipodystrophy 2", "description": "Congenital generalized lipodystrophy 2" } ], "evidence": [ { "id": "0111136", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111136" } ] }, { "disease_id": "DOID:10591", "recommended_name": { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." }, "synonyms": [ { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "gestational hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "hypertension induced by pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclamptic toxaemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia/eclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy associated hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy toxemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "proteinuric hypertension of pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "Any preeclampsia in which the cause of 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"PREECLAMPSIA/eclampsia 4", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "preeclampsia/eclampsia 3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PEE3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PREECLAMPSIA/eclampsia 3", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "preeclampsia/eclampsia 2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PEE2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PREECLAMPSIA/eclampsia 2", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "preeclampsia/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PEE1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREECLAMPSIA/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREG1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hemolysis, elevated liver enzymes, and low platelet count", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hypertension, pregnancy-induced", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:609404", "resource": "MIM", "url": "https://www.omim.org/entry/609404", "name": "Pre-eclampsia/eclampsia 4", "description": "Pre-eclampsia/eclampsia 4" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "evidence": [ { "id": "10591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ] }, { "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:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:11613", "recommended_name": { "id": "DOID:11613", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11613", "name": "hyperandrogenism", "description": "" }, "synonyms": [ { "id": "DOID:11613", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11613", "name": "hyperandrogenization syndrome", "description": "" } ], "evidence": [ { "id": "11613", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11613" } ] }, { "disease_id": "DOID:1287", "recommended_name": { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." }, "synonyms": [ { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "disease of subdivision of hemolymphoid system", "description": "" } ], "evidence": [ { "id": "1287", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ] }, { "disease_id": "DOID:12935", "recommended_name": { "id": "DOID:12935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12935", "name": "alcoholic cardiomyopathy", "description": "" }, "synonyms": [ { "id": "DOID:12935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12935", "name": "Alcohol-induced heart muscle disease", "description": "" }, { "id": "DOID:12935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12935", "name": "Dilated cardiomyopathy secondary to alcohol", "description": "" } ], "evidence": [ { "id": "12935", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ] }, { "disease_id": "DOID:13207", "recommended_name": { "id": "DOID:13207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13207", "name": "proliferative diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:13207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13207", "name": "PDR", "description": "" } ], "evidence": [ { "id": "13207", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ] }, { "disease_id": "DOID:14557", "recommended_name": { "id": "DOID:14557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." }, "synonyms": [ { "id": "DOID:14557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14557", "name": "Idiopathic pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "KCNK3 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "primary pulmonary hypertension caused by mutation in KCNK3", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, type 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "PPH4", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "CAV1 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "primary pulmonary hypertension caused by mutation in CAV1", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, type 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "PPH3", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, 2", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "SMAD9 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "primary pulmonary hypertension caused by mutation in SMAD9", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, 2", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, type 2", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "PPH2", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "BMPR2 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "primary pulmonary hypertension caused by mutation in BMPR2", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, familial primary, 1, with or without HHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PPH1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "Pph1 with Hht", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, Dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, Fenfluramine-associated", "description": "" }, { "id": "MIM:265400", "resource": "MIM", "url": "https://www.omim.org/entry/265400", "name": "Pulmonary hypertension, primary, 5", "description": "Pulmonary hypertension, primary, 5" }, { "id": "MIM:615344", "resource": "MIM", "url": "https://www.omim.org/entry/615344", "name": "Pulmonary hypertension, primary, 4", "description": "Pulmonary hypertension, primary, 4" }, { "id": "MIM:615343", "resource": "MIM", "url": "https://www.omim.org/entry/615343", "name": "Pulmonary hypertension, primary, 3", "description": "Pulmonary hypertension, primary, 3" }, { "id": "MIM:615342", "resource": "MIM", "url": "https://www.omim.org/entry/615342", "name": "Pulmonary hypertension, primary, 2", "description": "Pulmonary hypertension, primary, 2" }, { "id": "MIM:178600", "resource": "MIM", "url": "https://www.omim.org/entry/178600", "name": "Pulmonary hypertension, primary, 1", "description": "Pulmonary hypertension, primary, 1" } ], "evidence": [ { "id": "14557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ] }, { "disease_id": "DOID:1561", "recommended_name": { "id": "DOID:1561", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving." }, "synonyms": [ { "id": "DOID:1561", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1561", "name": "cognitive disease", "description": "" } ], "evidence": [ { "id": "1561", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:219", "recommended_name": { "id": "DOID:219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon." }, "synonyms": [], "evidence": [ { "id": "219", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:219" } ] }, { "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:2349", "recommended_name": { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." }, "synonyms": [ { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "Arteriosclerotic vascular disease", "description": "" } ], "evidence": [ { "id": "2349", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ] }, { "disease_id": "DOID:3021", "recommended_name": { "id": "DOID:3021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3021", "name": "acute kidney failure", "description": "" }, "synonyms": [], "evidence": [ { "id": "3021", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3407", "recommended_name": { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "carotid artery disease", "description": "" }, "synonyms": [ { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "disorder of carotid artery", "description": "" } ], "evidence": [ { "id": "3407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "evidence": [ { "id": "4989", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] }, { "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:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:811", "recommended_name": { "id": "DOID:811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue." }, "synonyms": [], "evidence": [ { "id": "811", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:811" } ] }, { "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:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9452", "recommended_name": { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes." }, "synonyms": [ { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "SLD", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "fatty liver disease", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Fatty change of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Steatosis of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "alcoholic fatty liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic lipidosis", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "White liver disease", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatal neonatal hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty liver disease, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty metamorphosis of viscera", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "steatosis of liver", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis", "description": "" } ], "evidence": [ { "id": "9452", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 112, "end_pos": 112, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases basal and ligand-induced adipogenic activity. Abolishes repression by PER2 on transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" }, { "database": "PubMed", "id": "21035761", "url": "https://glygen.org/publication/PubMed/21035761" }, { "database": "PubMed", "id": "21994940", "url": "https://glygen.org/publication/PubMed/21994940" } ] }, { "start_pos": 112, "end_pos": 112, "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of ubiquitination by FBXO9.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" }, { "database": "PubMed", "id": "27197753", "url": "https://glygen.org/publication/PubMed/27197753" } ] }, { "start_pos": 112, "end_pos": 112, "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on repression by PER2 on transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" }, { "database": "PubMed", "id": "21035761", "url": "https://glygen.org/publication/PubMed/21035761" }, { "database": "PubMed", "id": "21994940", "url": "https://glygen.org/publication/PubMed/21994940" } ] }, { "start_pos": 273, "end_pos": 273, "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of ubiquitination by FBXO9.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" }, { "database": "PubMed", "id": "27197753", "url": "https://glygen.org/publication/PubMed/27197753" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Pparg", "url": "https://www.uniprot.org/uniprot/P37238", "locus": { "chromosome": "6", "start_pos": 115467360, "end_pos": 115337912, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000000440", "url": "https://www.ensembl.org/id/ENSMUSG00000000440" } ] } } ], "crossref": [ { "id": "ENSMUSG00000000440", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000000440", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd06932", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06932", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd06965", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06965", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2459", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2459", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "19016", "url": "https://www.ncbi.nlm.nih.gov/gene/19016", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P37238", "url": "https://www.ebi.ac.uk/intact/interactors/id:P37238*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000536", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000536", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001628", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001628", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001723", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001723", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003074", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003074", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003077", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003077", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022590", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022590", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:19016", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:19016", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "97747", "url": "http://www.informatics.jax.org/marker/MGI:97747", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "AIDYKYD", "url": "https://omabrowser.org/oma/group/AIDYKYD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3475284at2759", "url": "http://www.orthodb.org/?query=3475284at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24082", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24082", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24082:SF488", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24082:SF488", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12577", "url": "http://pfam.xfam.org/family/PF12577", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P37238", "url": "http://purl.obolibrary.org/obo/PR_P37238", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0N4SV67", "url": "https://www.uniprot.org/uniprot/A0A0N4SV67", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0N4SV67-1", "url": "https://www.uniprot.org/uniprot/A0A0N4SV67-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0N4SVF8", "url": "https://www.uniprot.org/uniprot/A0A0N4SVF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0N4SVF8-1", "url": "https://www.uniprot.org/uniprot/A0A0N4SVF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M1VPI1", "url": "https://www.uniprot.org/uniprot/M1VPI1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M1VPI1-1", "url": "https://www.uniprot.org/uniprot/M1VPI1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37238-1", "url": "https://www.uniprot.org/uniprot/P37238-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37238-2", "url": "https://www.uniprot.org/uniprot/P37238-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6GU14", "url": "https://www.uniprot.org/uniprot/Q6GU14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6GU14-1", "url": "https://www.uniprot.org/uniprot/Q6GU14-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGETLGDSPVDPEHGAFADALPMSTSQEITMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKNLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKVLQKMTDLRQIVTEHVQLLHVIKKTETDMSLHPLLQEIYKDLY", "length": 505, "header": "sp|P37238-1|PPARG_MOUSE Isoform 1 of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=3 CANONICAL=P37238-1" }, "isoforms": [ { "isoform_ac": "A0A0N4SV67-1", "url": "", "sequence": { "sequence": "MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIK", "length": 222, "header": "tr|A0A0N4SV67-1|A0A0N4SV67_MOUSE Computationally mapped isoform of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=1 CANONICAL=P37238-1" }, "locus": { "chromosome": "6", "start_pos": 115440183, "end_pos": 115416809, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000205213.3", "url": "https://www.ensembl.org/id/ENSMUST00000205213.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000144975.2", "url": "https://www.ensembl.org/id/ENSMUSP00000144975.2" } ] } }, { "isoform_ac": "A0A0N4SVF8-1", "url": "", "sequence": { "sequence": "MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRP", "length": 96, "header": "tr|A0A0N4SVF8-1|PPARG_MOUSE Computationally mapped isoform of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=1 CANONICAL=P37238-1" }, "locus": { "chromosome": "6", "start_pos": 115418520, "end_pos": 115416809, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000204305.3", "url": "https://www.ensembl.org/id/ENSMUST00000204305.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000145083.2", "url": "https://www.ensembl.org/id/ENSMUSP00000145083.2" } ] } }, { "isoform_ac": "M1VPI1-1", "url": "", "sequence": { "sequence": "MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKVLQKMTDLRQIVTEHVQLLHVIKKTETDMSLHPLLQEIYKDLY", "length": 475, "header": "tr|M1VPI1-1|PPARG_MOUSE Computationally mapped isoform of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=1 CANONICAL=P37238-1" }, "locus": { "chromosome": "6", "start_pos": 115467153, "end_pos": 115416809, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000203732.3", "url": "https://www.ensembl.org/id/ENSMUST00000203732.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000145525.2", "url": "https://www.ensembl.org/id/ENSMUSP00000145525.2" } ] } }, { "isoform_ac": "P37238-1", "url": "", "sequence": { "sequence": "MGETLGDSPVDPEHGAFADALPMSTSQEITMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKNLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKVLQKMTDLRQIVTEHVQLLHVIKKTETDMSLHPLLQEIYKDLY", "length": 505, "header": "sp|P37238-1|PPARG_MOUSE Isoform 1 of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=3 CANONICAL=P37238-1" }, "locus": {} }, { "isoform_ac": "P37238-2", "url": "", "sequence": { "sequence": "MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKNLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKVLQKMTDLRQIVTEHVQLLHVIKKTETDMSLHPLLQEIYKDLY", "length": 475, "header": "sp|P37238-2|PPARG_MOUSE Isoform 2 of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=3 CANONICAL=P37238-1" }, "locus": {} }, { "isoform_ac": "Q6GU14-1", "url": "", "sequence": { "sequence": "MGETLGDSPVDPEHGAFADALPMSTSQEITMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISAPHYEDIPFTRADPMVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNRPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKVLQKMTDLRQIVTEHVQLLHVIKKTETDMSLHPLLQEIYKDLY", "length": 505, "header": "tr|Q6GU14-1|PPARG_MOUSE Computationally mapped isoform of Peroxisome proliferator-activated receptor gamma OS=Mus musculus OX=10090 GN=Pparg PE=1 SV=1 CANONICAL=P37238-1" }, "locus": { "chromosome": "6", "start_pos": 115467153, "end_pos": 115399072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000000450.5", "url": "https://www.ensembl.org/id/ENSMUST00000000450.5" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000000450.4", "url": "https://www.ensembl.org/id/ENSMUSP00000000450.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine O-GlcNAcylation", "start_pos": 84, "start_aa": "Thr", "end_pos": 84, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr84", "evidence": [ { "id": "P37238", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37238#ptm_processing" }, { "id": "22226965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22226965" } ] } ], "phosphorylation": [ { "start_pos": 112, "end_pos": 112, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" }, { "database": "phospho.ELM", "id": "P37238", "url": "http://phospho.elm.eu.org/byAccession/P37238.html" }, { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" }, { "database": "PubMed", "id": "14536066", "url": "https://glygen.org/publication/PubMed/14536066" }, { "database": "PubMed", "id": "15507114", "url": "https://glygen.org/publication/PubMed/15507114" }, { "database": "PubMed", "id": "16971566", "url": "https://glygen.org/publication/PubMed/16971566" }, { "database": "PubMed", "id": "18204460", "url": "https://glygen.org/publication/PubMed/18204460" }, { "database": "PubMed", "id": "18981214", "url": "https://glygen.org/publication/PubMed/18981214" }, { "database": "PubMed", "id": "21521693", "url": "https://glygen.org/publication/PubMed/21521693" }, { "database": "PubMed", "id": "21994940", "url": "https://glygen.org/publication/PubMed/21994940" }, { "database": "PubMed", "id": "24933248", "url": "https://glygen.org/publication/PubMed/24933248" }, { "database": "PubMed", "id": "27747357", "url": "https://glygen.org/publication/PubMed/27747357" }, { "database": "PubMed", "id": "28180926", "url": "https://glygen.org/publication/PubMed/28180926" }, { "database": "PubMed", "id": "29107124", "url": "https://glygen.org/publication/PubMed/29107124" }, { "database": "PubMed", "id": "31708444", "url": "https://glygen.org/publication/PubMed/31708444" }, { "database": "PubMed", "id": "33539723", "url": "https://glygen.org/publication/PubMed/33539723" }, { "database": "PubMed", "id": "21035761", "url": "https://glygen.org/publication/PubMed/21035761" } ], "site_lbl": "Ser112" }, { "start_pos": 273, "end_pos": 273, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" }, { "database": "PubMed", "id": "22140527", "url": "https://glygen.org/publication/PubMed/22140527" }, { "database": "PubMed", "id": 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Endocrinol.", "date": "2007", "authors": "Li D, Kang Q, Wang DM", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "17595322", "url": "https://glygen.org/publication/PubMed/17595322" } ] }, { "title": "Dok1 mediates high-fat diet-induced adipocyte hypertrophy and obesity through modulation of PPAR-gamma phosphorylation.", "journal": "Nature medicine", "date": "2008-02", "authors": "Hosooka Tetsuya, Noguchi Tetsuya, Kotani Ko, Nakamura Takehiro, Sakaue Hiroshi, Inoue Hiroshi, Ogawa Wataru, Tobimatsu Kazutoshi, Takazawa Kazuo, Sakai Mashito, Matsuki Yasushi, Hiramatsu Ryuji, Yasuda Tomoharu, Lazar Mitchell A, Yamanashi Yuji, Kasuga Masato", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "18204460", "url": "https://glygen.org/publication/PubMed/18204460" } ] }, { "title": "PRDM16 controls a brown fat/skeletal muscle switch.", "journal": "Nature", "date": "2008", "authors": "Yang W., Erdjument-Bromage H., Tempst P., Spiegelman B.M., Beier D.R., Chin S., Kajimura S., Devarakonda S., Rudnicki M.A., Seale P., Scime A., Kuang S., Bjork B., Conroe H.M.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "18719582", "url": "https://glygen.org/publication/PubMed/18719582" } ] }, { "title": "Mat1 inhibits peroxisome proliferator-activated receptor gamma-mediated adipocyte differentiation.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Helenius K, Yang Y, Alasaari J, Makela TP", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "18981214", "url": "https://glygen.org/publication/PubMed/18981214" } ] }, { "title": "SIRT2 suppresses adipocyte differentiation by deacetylating FOXO1 and enhancing FOXO1's repressive interaction with PPARgamma.", "journal": "Mol. 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Chem.", "date": "2011", "authors": "Hinds TD Jr, Stechschulte LA, Cash HA, Whisler D, Banerjee A, Yong W, Khuder SS, Kaw MK, Shou W, Najjar SM, Sanchez ER", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" }, { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "21994940", "url": "https://glygen.org/publication/PubMed/21994940" } ] }, { "title": "The multi-level action of fatty acids on adiponectin production by fat cells.", "journal": "PloS one", "date": "2011", "authors": "Karki Shakun, Chakrabarti Partha, Huang Guanrong, Wang Hong, Farmer Stephen R, Kandror Konstantin V", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "22140527", "url": "https://glygen.org/publication/PubMed/22140527" } ] }, { "title": "O-GlcNAc modification of PPARgamma reduces its transcriptional activity.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Ji S, Park SY, Roth J, Kim HS, Cho JW", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238#ptm_processing" }, { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "22226965", "url": "https://glygen.org/publication/PubMed/22226965" } ] }, { "title": "GQ-16, a novel peroxisome proliferator-activated receptor \u03b3 (PPAR\u03b3) ligand, promotes insulin sensitization without weight gain.", "journal": "The Journal of biological chemistry", "date": "2012-08-10", "authors": "Amato Ang\u00e9lica A, Rajagopalan Senapathy, Lin Jean Z, Carvalho Bruno M, Figueira Ana C M, Lu Jenny, Ayers Stephen D, Mottin Melina, Silveira Rodrigo L, Souza Paulo C T, Mour\u00e3o Rosa H V, Saad M\u00e1rio J A, Togashi Marie, Simeoni Luiz A, Abdalla Dulcin\u00e9ia S P, Skaf Munir S, Polikparpov Igor, Lima Maria C A, Galdino Suely L, Brennan Richard G, Baxter John D, Pitta Ivan R, Webb Paul, Phillips Kevin J, Neves Francisco A R", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "22584573", "url": "https://glygen.org/publication/PubMed/22584573" } ] }, { "title": "Identification of the antibiotic ionomycin as an unexpected peroxisome proliferator-activated receptor \u03b3 (PPAR\u03b3) ligand with a unique binding mode and effective glucose-lowering activity in a mouse model of diabetes.", "journal": "Diabetologia", "date": "2013-02", "authors": "Zheng W, Feng X, Qiu L, Pan Z, Wang R, Lin S, Hou D, Jin L, Li Y", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "23178929", "url": "https://glygen.org/publication/PubMed/23178929" } ] }, { "title": "THRAP3 interacts with HELZ2 and plays a novel role in adipocyte differentiation.", "journal": "Mol. 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"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "28180926", "url": "https://glygen.org/publication/PubMed/28180926" } ] }, { "title": "CRY1/2 selectively repress PPARdelta and limit exercise capacity.", "journal": "Cell Metab.", "date": "2017", "authors": "Jordan SD, Kriebs A, Vaughan M, Duglan D, Fan W, Henriksson E, Huber AL, Papp SJ, Nguyen M, Afetian M, Downes M, Yu RT, Kralli A, Evans RM, Lamia KA", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "28683290", "url": "https://glygen.org/publication/PubMed/28683290" } ] }, { "title": "Genetic inhibition of PPARgamma S112 phosphorylation reduces bone formation and stimulates marrow adipogenesis.", "journal": "Bone", "date": "2018", "authors": "Ge C, Zhao G, Li B, Li Y, Cawthorn WP, MacDougald OA, Franceschi RT", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "29107124", "url": "https://glygen.org/publication/PubMed/29107124" } ] }, { "title": "Dihydromyricetin enhances glucose uptake by inhibition of MEK/ERK pathway and consequent down-regulation of phosphorylation of PPAR\u03b3 in 3T3-L1 cells.", "journal": "Journal of cellular and molecular medicine", "date": "2018-02", "authors": "Liu Lei, Zhou Min, Lang Hedong, Zhou Yong, Mi Mantian", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "29160030", "url": "https://glygen.org/publication/PubMed/29160030" } ] }, { "title": "Treatment with Lobeglitazone Attenuates Hepatic Steatosis in Diet-Induced Obese Mice.", "journal": "PPAR research", "date": "2018", "authors": "Choung Sorim, Joung Kyong Hye, You Bo Ram, Park Sang Ki, Kim Hyun Jin, Ku Bon Jeong", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "30008738", "url": "https://glygen.org/publication/PubMed/30008738" } ] }, { "title": "Mechanistic elucidation guided by covalent inhibitors for the development of anti-diabetic PPAR\u03b3 ligands.", "journal": "Chemical science", "date": "2016-08-01", "authors": "Bae Hwan, Jang Jun Young, Choi Sun-Sil, Lee Jae-Jin, Kim Heejun, Jo Ala, Lee Kong-Joo, Choi Jang Hyun, Suh Se Won, Park Seung Bum", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "30034693", "url": "https://glygen.org/publication/PubMed/30034693" } ] }, { "title": "CMHX008, a PPAR\u03b3 partial agonist, enhances insulin sensitivity with minor influences on bone loss.", "journal": "Genes & diseases", "date": "2018-09", "authors": "Hou Yi, Cao Xuemei, Hu Xiangnan, Li Xinyu, Shi Xiaoqin, Wang Hongying, Peng Chuan, Li Jiayu, Li Jibin, Li Qifu, Wu Chaodong, Xiao Xiaoqiu", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "30320193", "url": "https://glygen.org/publication/PubMed/30320193" } ] }, { "title": "A novel specific peroxisome proliferator-activated receptor \u03b3 (PPAR\u03b3) modulator YR4-42 ameliorates hyperglycaemia and dyslipidaemia and hepatic steatosis in diet-induced obese mice.", "journal": "Diabetes, obesity & metabolism", "date": "2019-11", "authors": "Huan Yi, Pan Xuan, Peng Jun, Jia Chunming, Sun Sujuan, Bai Guoliang, Wang Xing, Zhou Tian, Li Rongcui, Liu Shuainan, Li Caina, Liu Quan, Liu Zhanzhu, Shen Zhufang", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "31364797", "url": "https://glygen.org/publication/PubMed/31364797" } ] }, { "title": "Design, synthesis, and evaluation of potent novel peroxisome proliferator-activated receptor \u03b3 indole partial agonists.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2019-11-15", "authors": "Eeda Venkateswararao, Wu Dan, Lim Hui-Ying, Wang Weidong", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "31591015", "url": "https://glygen.org/publication/PubMed/31591015" } ] }, { "title": "Adipocyte PU.1 knockout promotes insulin sensitivity in HFD-fed obese mice.", "journal": "Scientific reports", "date": "2019", "authors": "Lackey DE, Reis FCG, Isaac R, Zapata RC, El Ouarrat D, Lee YS, Bandyopadhyay G, Ofrecio JM, Oh DY, Osborn O", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "31611602", "url": "https://glygen.org/publication/PubMed/31611602" } ] }, { "title": "TAZ Is a Negative Regulator of PPAR\u03b3 Activity in Adipocytes and TAZ Deletion Improves Insulin Sensitivity and Glucose Tolerance.", "journal": "Cell metabolism", "date": "2020-01-07", "authors": "El Ouarrat Dalila, Isaac Roi, Lee Yun Sok, Oh Da Young, Wollam Joshua, Lackey Denise, Riopel Matthew, Bandyopadhyay Gautam, Seo Jong Bae, Sampath-Kumar Revathy, Olefsky Jerrold M", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "31708444", "url": "https://glygen.org/publication/PubMed/31708444" } ] }, { "title": "Triphenyl phosphate is a selective PPAR\u03b3 modulator that does not induce brite adipogenesis in vitro and in vivo.", "journal": "Archives of toxicology", "date": "2020-09", "authors": "Kim Stephanie, Rabhi Nabil, Blum Benjamin C, Hekman Ryan, Wynne Kieran, Emili Andrew, Farmer Stephen, Schlezinger Jennifer J", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "32683515", "url": "https://glygen.org/publication/PubMed/32683515" } ] }, { "title": "Obesity-Linked PPAR\u03b3 S273 Phosphorylation Promotes Insulin Resistance through Growth Differentiation Factor 3.", "journal": "Cell metabolism", "date": "2020-10-06", "authors": "Hall Jessica A, Ramachandran Deepti, Roh Hyun C, DiSpirito Joanna R, Belchior Thiago, Zushin Peter-James H, Palmer Colin, Hong Shangyu, Mina Amir I, Liu Bingyang, Deng Zhaoming, Aryal Pratik, Jacobs Christopher, Tenen Danielle, Brown Chester W, Charles Julia F, Shulman Gerald I, Kahn Barbara B, Tsai Linus T Y, Rosen Evan D, Spiegelman Bruce M, Banks Alexander S", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "32941798", "url": "https://glygen.org/publication/PubMed/32941798" } ] }, { "title": "Exogenous natural EPA-enriched phosphatidylcholine and phosphatidylethanolamine ameliorate lipid accumulation and insulin resistance via activation of PPAR\u03b1/\u03b3 in mice.", "journal": "Food & function", "date": "2020-09-23", "authors": "Tian Yingying, Liu Yanjun, Xue Changhu, Wang Jingfeng, Wang Yuming, Xu Jie, Li Zhaojie", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "32966473", "url": "https://glygen.org/publication/PubMed/32966473" } ] }, { "title": "Pathologic HIF1\u03b1 signaling drives adipose progenitor dysfunction in obesity.", "journal": "Cell stem cell", "date": "2021-04-01", "authors": "Shao Mengle, Hepler Chelsea, Zhang Qianbin, Shan Bo, Vishvanath Lavanya, Henry Gervaise H, Zhao Shangang, An Yu A, Wu Yibo, Strand Douglas W, Gupta Rana K", "evidence": [ { "database": "iPTMnet", "id": "P37238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37238" } ], "reference": [ { "type": "PubMed", "id": "33539723", "url": "https://glygen.org/publication/PubMed/33539723" } ] }, { "title": "PPAR\u03b3 Acetylation in Adipocytes Exacerbates BAT Whitening and Worsens Age-Associated Metabolic Dysfunction.", "journal": "Cells", "date": "2023-05-18", "authors": "He Ying, Zhang Ruotong, Yu Lexiang, Zahr Tarik, Li Xueming, Kim Tae-Wan, Qiang Li", "evidence": [ { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" }, { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" } ], "reference": [ { "type": "PubMed", "id": "37408258", "url": "https://glygen.org/publication/PubMed/37408258" } ] }, { "title": "Maternal obesity attenuates PPAR\u03b3 nuclear migration impairing offspring adipogenesis.", "journal": "Journal of molecular endocrinology", "date": "2023-10-01", "authors": "de Sousa \u00c9rica, Rodrigues Alice Cristina", "evidence": [ { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" }, { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" } ], "reference": [ { "type": "PubMed", "id": "37486764", "url": "https://glygen.org/publication/PubMed/37486764" } ] }, { "title": "PPAR\u03b3 activation modulates the balance of peritoneal macrophage populations to suppress ovarian tumor growth and tumor-induced immunosuppression.", "journal": "Journal for immunotherapy of cancer", "date": "2023-08", "authors": "Prat M\u00e9lissa, Coulson Kimberley, Blot Cl\u00e9ment, Jacquemin Godefroy, Romano Mathilde, Renoud Marie-Laure, AlaEddine Mohamad, Le Naour Augustin, Authier H\u00e9l\u00e8ne, Rahabi Mouna Chirine, Benmoussa Khaddouj, Salon Marie, Parny M\u00e9lissa, Delord Jean-Pierre, Ferron Gwena\u00ebl, Lef\u00e8vre Lise, Couderc Bettina, Coste Agn\u00e8s", "evidence": [ { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" }, { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" } ], "reference": [ { "type": "PubMed", "id": "37586764", "url": "https://glygen.org/publication/PubMed/37586764" } ] }, { "title": "PPARG stimulation restored lung mRNA expression of core clock, inflammation- and metabolism-related genes disrupted by reversed feeding in male mice.", "journal": "Physiological reports", "date": "2023-09", "authors": "Shlykova Oksana, Izmailova Olga, Kabaliei Alina, Palchyk Vitalina, Shynkevych Viktoriya, Kaidashev Igor", "evidence": [ { "database": "RefSeq", "id": "NP_001120802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120802" }, { "database": "RefSeq", "id": "NP_035276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035276" } ], "reference": [ { "type": "PubMed", "id": "37704580", "url": "https://glygen.org/publication/PubMed/37704580" } ] }, { "title": "Adipocyte-specific transcription factor ARF6 is a heterodimeric complex of two nuclear hormone receptors, PPAR gamma and RXR alpha.", "journal": "Nucleic Acids Res.", "date": "1994", "authors": "Tontonoz P, Graves RA, Budavari AI, Erdjument-Bromage H, Lui M, Hu E, Tempst P, Spiegelman BM", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "7838715", "url": "https://glygen.org/publication/PubMed/7838715" } ] }, { "title": "mPPAR gamma 2: tissue-specific regulator of an adipocyte enhancer.", "journal": "Genes Dev.", "date": "1994", "authors": "Spiegelman B.M., Hu E., Tontonoz P., Graves R.A., Budavari A.I.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "7926726", "url": "https://glygen.org/publication/PubMed/7926726" } ] }, { "title": "Differential expression and activation of a family of murine peroxisome proliferator-activated receptors.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1994", "authors": "Kliewer SA, Forman BM, Blumberg B, Ong ES, Borgmeyer U, Mangelsdorf DJ, Umesono K, Evans RM", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "8041794", "url": "https://glygen.org/publication/PubMed/8041794" } ] }, { "title": "Identification of two mPPAR related receptors and evidence for the existence of five subfamily members.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1993", "authors": "Chen F., Law S.W., O'Malley B.W.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "8240342", "url": "https://glygen.org/publication/PubMed/8240342" } ] }, { "title": "Cloning of a new member of the peroxisome proliferator-activated receptor gene family from mouse liver.", "journal": "J. Biol. Chem.", "date": "1993", "authors": "Zhu Y, Alvares K, Huang Q, Rao MS, Reddy JK", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "8262913", "url": "https://glygen.org/publication/PubMed/8262913" } ] }, { "title": "Regulation of PPAR gamma gene expression by nutrition and obesity in rodents.", "journal": "J. Clin. Invest.", "date": "1996", "authors": "Moller D.E., Vidal-Puig A., Flier J.S., Lowell B.B., Spiegelman B., Hu E., Jimenez-Linan M., Hamann A.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "8647948", "url": "https://glygen.org/publication/PubMed/8647948" } ] }, { "title": "Isolation and characterization of PBP, a protein that interacts with peroxisome proliferator-activated receptor.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Zhu Y., Rao M.S., Reddy J.K., Qi C., Jain S.", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "reference": [ { "type": "PubMed", "id": "9325263", "url": "https://glygen.org/publication/PubMed/9325263" } ] } ], "pathway": [ { "id": "mmu:19016", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:19016", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O88275-1", "protein_name": "Peroxisome proliferator-activated receptor gamma", "gene_name": "Pparg", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0050693", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "STAT family protein binding", "id": "GO:0097677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097677", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "alpha-actinin binding", "id": "GO:0051393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "protein self-association", "id": "GO:0043621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043621", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "WW domain binding", "id": "GO:0050699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050699", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", 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"name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "nuclear receptor coactivator activity", "id": "GO:0030374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030374", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "arachidonic acid binding", "id": "GO:0050544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050544", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "DNA binding domain binding", "id": "GO:0050692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050692", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "R-SMAD binding", "id": "GO:0070412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070412", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 122, "go_terms": [ { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "regulation of response to stimulus", "id": "GO:0048583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048583", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of cellular response to transforming growth factor beta stimulus", "id": "GO:1903845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903845", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of signaling receptor activity", "id": "GO:2000272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000272", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "macrophage derived foam cell differentiation", "id": "GO:0010742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010742", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of adipose tissue development", "id": "GO:1904179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904179", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of pancreatic stellate cell proliferation", "id": "GO:2000230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000230", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of miRNA-mediated gene silencing", "id": "GO:0060965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060965", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "wound healing involved in inflammatory response", "id": "GO:0002246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002246", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "regulation of cellular response to insulin stimulus", "id": "GO:1900076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900076", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of connective tissue replacement involved in inflammatory response wound healing", "id": "GO:1904597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904597", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "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": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "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": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of sequestering of triglyceride", "id": "GO:0010891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010891", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "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": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "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": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": 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vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "regulation 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"pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein receptor activity", "id": "GO:1905599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905599", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of fatty acid metabolic process", "id": "GO:0045923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045923", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", 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"https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of telomerase activity", "id": "GO:0051974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051974", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein signal transduction", "id": "GO:0060392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060392", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial cell proliferation", "id": "GO:1905563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905563", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of peptide hormone secretion", "id": "GO:0090278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090278", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of cellular response to insulin stimulus", "id": "GO:1900077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900077", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via STAT", "id": "GO:1904893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904893", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprot/P37238" } ], "pmid": "" }, { "name": "negative regulation of neuroinflammatory response", "id": "GO:0150079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150079", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": 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