{ "uniprot_canonical_ac": "Q9VCZ3-1", "uniprot_ac": "Q9VCZ3", "uniprot_id": "OCTB1_DROME", "mass": { "chemical_mass": 56855.0, "monoisotopic_mass": 56855.0 }, "refseq": { "ac": "NP_001034064", "name": "octopamine beta1 receptor, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034064" }, "gene_names": [ { "name": "Octbeta1R", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "CG6919", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "DmCG6919", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "DmOctBeta1R", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "DmOctbeta1R", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "Dmel\\CG6919", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "Dmel_CG6919", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "Dmoa2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "OA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "Oa2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "Oct-beta-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "OctBeta1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "Octbeta1R", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163690", "id": "NP_001163690" }, { "name": "anon-WO0170980.67; anon-WO0170980.68; CG6919; DmCG6919; Dmel\\CG6919; Dmoa2; DmOctbeta1R; DmOctBeta1R; oa2; Oa2; OA2; OctBeta1; octbeta1r; octbeta1R", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163690", "id": "NP_001163690" }, { "name": "anon-WO0170980.67", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "anon-WO0170980.68", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "oa2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" }, { "name": "octbeta1R", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "id": "Q9VCZ3" } ], "protein_names": [ { "name": "Octopamine receptor beta-1R", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9VCZ3" }, { "name": "CG6919-PB; Octbeta1R-PB; octopamine receptor; octopamine receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034064", "id": "NP_001034064" }, { "name": "CG6919-PC; Octbeta1R-PC; octopamine receptor; octopamine receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163690", "id": "NP_001163690" }, { "name": "DmOA2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VCZ3" }, { "name": "DmOct-beta-1R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VCZ3" }, { "name": "octopamine beta1 receptor, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034064", "id": "NP_001034064" }, { "name": "octopamine beta1 receptor, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163690", "id": "NP_001163690" } ], "function": [ { "annotation": "Autoreceptor for octopamine, which is a neurotransmitter, neurohormone, and neuromodulator in invertebrates (PubMed:15816867, PubMed:22553037). Negatively regulates synaptic growth by activating the inhibitory G protein Galphao and limiting cAMP production (PubMed:22553037). Antagonizes the action of Octbeta2R which stimulates synaptic growth (PubMed:22553037).", "evidence": [ { "database": "UniProtKB", "id": "Q9VCZ3", "url": "https://www.uniprot.org/uniprot/Q9VCZ3#function" }, { "database": "PubMed", "id": "22553037", "url": "https://glygen.org/publication/PubMed/22553037" }, { "database": "PubMed", "id": "15816867", "url": "https://glygen.org/publication/PubMed/15816867" } ] } ], "disease": [ { "disease_id": "DOID:0080208", "recommended_name": { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." }, "synonyms": [ { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "non-alcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "NAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MASLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "nonalcoholic fatty liver disease", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "NAFLD2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1", "description": "" }, { "id": "MIM:613282", "resource": "MIM", "url": "https://www.omim.org/entry/613282", "name": "Non-alcoholic fatty liver disease 1", "description": "Non-alcoholic fatty liver disease 1" } ], "evidence": [ { "id": "0080208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ] }, { "disease_id": "DOID:0110429", "recommended_name": { "id": "DOID:0110429", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22." }, "synonyms": [ { "id": "DOID:0110429", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110429", "name": "dilated cardiomyopathy with conduction defect", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22." }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "CMD1H", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "dilated cardiomyopathy type 1H", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "dilated cardiomyopathy with conduction defect", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "cardiomyopathy, dilated, 1H", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "cardiomyopathy, dilated, with conduction defect", "description": "" } ], "evidence": [ { "id": "0110429", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ] }, { "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:13189", "recommended_name": { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint." }, "synonyms": [ { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "Articular gout", "description": "" }, { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "Gouty arthropathy", "description": "" }, { "id": "DOID:13189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13189", "name": "gouty arthritis", "description": "" } ], "evidence": [ { "id": "13189", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial Ca", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "evidence": [ { "id": "1380", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:1485", "recommended_name": { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." }, "synonyms": [ { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "CF", "description": "" }, { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "CF", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis lung disease, modifier of", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "description": "" }, { "id": "MIM:219700", "resource": "MIM", "url": "https://www.omim.org/entry/219700", "name": "Cystic fibrosis", "description": "Cystic fibrosis" } ], "evidence": [ { "id": "1485", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ] }, { "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, 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"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:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:7148", "recommended_name": { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." }, "synonyms": [ { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "Arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "atrophic Arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "atrophic arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "RA", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis, rheumatoid", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "autoimmune arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, progression of", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, susceptibility to", "description": "" }, { "id": "MIM:180300", "resource": "MIM", "url": "https://www.omim.org/entry/180300", "name": "Rheumatoid arthritis", "description": "Rheumatoid arthritis" } ], "evidence": [ { "id": "7148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ] }, { "disease_id": "DOID:8689", "recommended_name": { "id": "DOID:8689", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image." }, "synonyms": [], "evidence": [ { "id": "8689", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID: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. 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"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 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"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: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", 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"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": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCZ3", "url": "https://www.uniprot.org/uniprot/Q9VCZ3" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Octbeta1R", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "locus": { "chromosome": "3R", "start_pos": 22520078, "end_pos": 22497215, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0038980", "url": "https://www.ensembl.org/id/FBgn0038980" } ] } } ], 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"Protein Classification" ] }, { "id": "dme:Dmel_CG6919", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG6919", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "CCPYAFI", "url": "https://omabrowser.org/oma/group/CCPYAFI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2908467at2759", "url": "http://www.orthodb.org/?query=2908467at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24248", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24248", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24248:SF134", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24248:SF134", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00001", "url": "http://pfam.xfam.org/family/PF00001", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9VCZ3", "url": "http://purl.obolibrary.org/obo/PR_Q9VCZ3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-390651", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-390651", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-390696", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-418555", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5689880", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8856825", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8856828", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001034064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034064", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E1JIT6", "url": "https://www.uniprot.org/uniprot/E1JIT6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E1JIT6-1", "url": "https://www.uniprot.org/uniprot/E1JIT6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VCZ3", "url": "https://www.uniprot.org/uniprot/Q9VCZ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VCZ3-1", "url": "https://www.uniprot.org/uniprot/Q9VCZ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VCZ3-2", "url": "https://www.uniprot.org/uniprot/Q9VCZ3-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTLLQRLQAMSATTTRTILEGSISSFGGGTNEPLASKIPVLEESASHARYLKFIADGLIDEGLGSAVGSGSSIAVSVEDVVAGQAQDIQASEGSTDDADGSSHLALVFVKCFIIGFIILAAILGNMLVIVSVMRHRKLRIITNYFVVSLAVADMLVALCAMTFNASVMISGKWMFGSVMCDMWNSFDVYFSTASIMHLCCISVDRYYAIVQPLDYPLIMTQRRVFIMLLMVWLSPALLSFLPICSGWYTTTENYKYLKSNPHICEFKVNKAYAIVSSSMSFWIPGIVMLSMYYRIYQEADRQERLVYRSKVAALLLEKHLQISQIPKPRPSIQVEQSTISTMRRERKAARTLGIIMSAFLICWLPFFLWYIVSSLCDSCITPRLLVGILFWIGYFNSALNPIIYAYFNRDFRAAFKKTLKSLFPYAFYFCRRGRGRDDDRDLEFGGPSRRGTNGAQRTGSGSAEMANCVNSTASSEIHMSVMRARQYAVNVTPTTDAQMQQLHPLYTN", "length": 508, "header": "sp|Q9VCZ3-1|OCTB1_DROME Isoform 1 of Octopamine receptor beta-1R OS=Drosophila melanogaster OX=7227 GN=Octbeta1R PE=2 SV=1 CANONICAL=Q9VCZ3-1" }, "isoforms": [ { "isoform_ac": "E1JIT6-1", "url": "", "sequence": { "sequence": "MTLLQRLQAMSATTTRTILEGSISSFGGGTNEPLASKIPVLEESASHARYLKFIADGLIDEGLGSAVGSGSSIAVSVEDVVAGQAQDIQASEGSTDDADGSSHLALVFVKCFIIGFIILAAILGNMLVIVSVMRHRKLRIITNYFVVSLAVADMLVALCAMTFNASVMISGKWMFGSVMCDMWNSFDVYFSTASIMHLCCISVDRYYAIVQPLDYPLIMTQRRVFIMLLMVWLSPALLSFLPICSGWYTTTENYKYLKSNPHICEFKVNKAYAIVSSSMSFWIPGIVMLSMYYRIYQEADRQERLVYRSKVAALLLEKHLQISQIPKPRPSIQVEQSTISTMRRERKAARTLGIIMSAFLICWLPFFLWYIVSSLCDSCITPRLLVGILFWIGYFNSALNPIIYAYFNRDFRAAFKKTLKVSCGLAIE", "length": 428, "header": "tr|E1JIT6-1|OCTB1_DROME Computationally mapped isoform of Octopamine receptor beta-1R OS=Drosophila melanogaster OX=7227 GN=Octbeta1R PE=2 SV=1 CANONICAL=Q9VCZ3-1" }, "locus": { "chromosome": "3R", "start_pos": 22515198, "end_pos": 22509789, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0301484", "url": "https://www.ensembl.org/id/FBtr0301484" }, { "database": "Ensembl Peptide", "id": "FBpp0290699", "url": "https://www.ensembl.org/id/FBpp0290699" } ] } }, { "isoform_ac": "Q9VCZ3-1", "url": "", "sequence": { "sequence": "MTLLQRLQAMSATTTRTILEGSISSFGGGTNEPLASKIPVLEESASHARYLKFIADGLIDEGLGSAVGSGSSIAVSVEDVVAGQAQDIQASEGSTDDADGSSHLALVFVKCFIIGFIILAAILGNMLVIVSVMRHRKLRIITNYFVVSLAVADMLVALCAMTFNASVMISGKWMFGSVMCDMWNSFDVYFSTASIMHLCCISVDRYYAIVQPLDYPLIMTQRRVFIMLLMVWLSPALLSFLPICSGWYTTTENYKYLKSNPHICEFKVNKAYAIVSSSMSFWIPGIVMLSMYYRIYQEADRQERLVYRSKVAALLLEKHLQISQIPKPRPSIQVEQSTISTMRRERKAARTLGIIMSAFLICWLPFFLWYIVSSLCDSCITPRLLVGILFWIGYFNSALNPIIYAYFNRDFRAAFKKTLKSLFPYAFYFCRRGRGRDDDRDLEFGGPSRRGTNGAQRTGSGSAEMANCVNSTASSEIHMSVMRARQYAVNVTPTTDAQMQQLHPLYTN", "length": 508, "header": "sp|Q9VCZ3-1|OCTB1_DROME Isoform 1 of Octopamine receptor beta-1R OS=Drosophila melanogaster OX=7227 GN=Octbeta1R PE=2 SV=1 CANONICAL=Q9VCZ3-1" }, "locus": { "chromosome": "3R", "start_pos": 22516886, "end_pos": 22509789, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0331930", "url": "https://www.ensembl.org/id/FBtr0331930" }, { "database": "Ensembl Peptide", "id": "FBpp0304263", "url": "https://www.ensembl.org/id/FBpp0304263" } ] } }, { "isoform_ac": "Q9VCZ3-2", "url": "", "sequence": { "sequence": "MTLLQRLQAMSATTTRTILEGSISSFGGGTNEPLASKIPVLEESASHARYLKFIADGLIDEGLGSAVGSGSSIAVSVEDVVAGQAQDIQASEGSTDDADGSSHLALVFVKCFIIGFIILAAILGNMLVIVSVMRHRKLRIITNYFVVSLAVADMLVALCAMTFNASVMISGKWMFGSVMCDMWNSFDVYFSTASIMHLCCISVDRYYAIVQPLDYPLIMTQRRVFIMLLMVWLSPALLSFLPICSGWYTTTENYKYLKSNPHICEFKVNKAYAIVSSSMSFWIPGIVMLSMYYRIYQEADRQERLVYRSKVAALLLEKHLQISQIPKPRPSIQVEQSTISTMRRERKAARTLGIIMSAFLICWLPFFLWYIVSSLCDSCITPRLLVGILFWIGYFNSALNPIIYAYFNRDFRAAFKKTLKT", "length": 421, "header": "sp|Q9VCZ3-2|OCTB1_DROME Isoform 2 of Octopamine receptor beta-1R OS=Drosophila melanogaster OX=7227 GN=Octbeta1R PE=2 SV=1 CANONICAL=Q9VCZ3-1" }, "locus": { "chromosome": "3R", "start_pos": 22515304, "end_pos": 22509789, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0100322", "url": "https://www.ensembl.org/id/FBtr0100322" }, { "database": "Ensembl Peptide", "id": "FBpp0099727", "url": "https://www.ensembl.org/id/FBpp0099727" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 164, "start_aa": "Asn", "end_pos": 164, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn164", "evidence": [ { "id": "Q9VCZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VCZ3#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "E1JIT6", "url": "https://www.uniprot.org/uniprot/E1JIT6" }, { "database": "UniProtKB", "id": "Q9VCZ3", "url": "https://www.uniprot.org/uniprot/Q9VCZ3" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "E1JIT6", "url": "https://www.uniprot.org/uniprot/E1JIT6" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "E1JIT6", "url": "https://www.uniprot.org/uniprot/E1JIT6" }, { "database": "UniProtKB", "id": "Q9VCZ3", "url": "https://www.uniprot.org/uniprot/Q9VCZ3" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": 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