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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110333" } ], "weight": 0.0 }, { "disease_id": "DOID:0111005", "name": "cone-rod dystrophy 2", "description": "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0111005", "evidence": [ { "id": "0111005", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111005" } ], "weight": 0.0 }, { "disease_id": "DOID:0111806", "name": "syndromic microphthalmia 5", "description": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.", "url": "https://disease-ontology.org/term/DOID:0111806", "evidence": [ { "id": "0111806", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111806" } ], "weight": 0.0 }, { "disease_id": 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development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "brain segmentation", "id": "GO:0035284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035284", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "ocellus development", "id": "GO:0008056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008056", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "ocellus photoreceptor cell development", "id": "GO:0042463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042463", "evidence": [ { "database": "UniProtKB", "id": "P22810", "url": "https://www.uniprot.org/uniprotkb/P22810" } ], "pmid": "" }, { "name": "rhabdomere morphogenesis", "id": "GO:0061541", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "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": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": 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"id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P29673", "url": "https://www.uniprot.org/uniprotkb/P29673" } ], "pmid": "" }, { "name": "anatomical structure regression", "id": "GO:0060033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060033", "evidence": [ { "database": "UniProtKB", "id": "P29673", "url": "https://www.uniprot.org/uniprotkb/P29673" } ], "pmid": "" }, { "name": "haltere morphogenesis", "id": "GO:0048735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048735", "evidence": [ { "database": "UniProtKB", "id": "P29673", "url": "https://www.uniprot.org/uniprotkb/P29673" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P29673", "url": "https://www.uniprot.org/uniprotkb/P29673" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation, imaginal disc", "id": "GO:0007450", "url": 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that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.", "url": "https://disease-ontology.org/term/DOID:2058", "evidence": [ { "id": "2058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2058" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": 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"UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": 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"imaginal disc-derived male genitalia morphogenesis", "id": "GO:0048803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048803", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "dorsal closure, spreading of leading edge cells", "id": "GO:0007395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007395", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": 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ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0061062", "name": "immunodeficiency 92", "description": "A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.", "url": "https://disease-ontology.org/term/DOID:0061062", "evidence": [ { "id": "0061062", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061062" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one 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"url": "https://www.alliancegenome.org/disease/DOID:0111992" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, 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Reduced survival following infection with fungi, and reduced levels of Drs following immune challenge with fungi or bacteria. No down-regulation of the serpin Spn27A in response to bacterial infection. 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"name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P15007", "url": "https://www.uniprot.org/uniprotkb/P15007" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P15007-1" }, { "uniprot_canonical_ac": "Q24248-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 717, "chemical_mass": 75422.0, "gene_names": "ara;Ara;CG10571;Dmel\\CG10571;Dmel_CG10571;IRO-C;Iro-C;IroC;Iro;ara;iro-C;iro", "protein_name": "Homeobox protein araucan", "disease": [ { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac 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"url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "notum cell fate specification", "id": "GO:0035310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035310", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "equator specification", "id": "GO:0045317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045317", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": 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"glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 122, "start_aa": "Thr", "end_pos": 122, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr122", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q24248-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q24248", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "P29555", "url": "https://www.uniprot.org/uniprotkb/P29555" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P29555", "url": "https://www.uniprot.org/uniprotkb/P29555" } ], "pmid": "" }, { "name": "neuroblast fate determination", "id": "GO:0007400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007400", "evidence": [ { "database": "UniProtKB", "id": "P29555", "url": "https://www.uniprot.org/uniprotkb/P29555" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P29555", "url": "https://www.uniprot.org/uniprotkb/P29555" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": 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"https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "actin nucleation", "id": "GO:0045010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045010", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "actomyosin contractile ring assembly", "id": "GO:0000915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000915", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "plasma membrane tubulation", "id": "GO:0097320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097320", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "mitotic cell cycle, embryonic", "id": "GO:0045448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045448", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "assembly of apicomedial cortex actomyosin", "id": "GO:0106036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106036", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "regulation of actomyosin structure organization", "id": "GO:0110020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110020", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "meiosis I cytokinesis", "id": "GO:0007110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007110", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "meiosis II cytokinesis", "id": "GO:0007111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007111", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "pole cell formation", "id": "GO:0007279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007279", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "pseudocleavage involved in syncytial blastoderm formation", "id": "GO:0030589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030589", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P48608-1" }, { "uniprot_canonical_ac": "Q7KU24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1883, "chemical_mass": 211828.0, "gene_names": "Chd1;2;CG3733;CHD-1;CHD1;Chd1;DmCHD1;Dmel\\CG3733;Dmel_CG3733;chd1;dCHD1;dChd1;l(2)23Cd", "protein_name": "ATP-dependent chromatin remodeler Chd1", "disease": [ { "disease_id": "DOID:0050834", "name": "CHARGE syndrome", "description": "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.", "url": "https://disease-ontology.org/term/DOID:0050834", "evidence": [ { "id": "0050834", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050834" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0081325", "evidence": [ { "id": "0081325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081325" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nucleosome organization", "id": "GO:0034728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034728", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": 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"Ca-alpha1D;A1D;BG:DS02795.1;CAD;CG4894;Ca-Alpha1D;Ca-_1D;Ca-a1D;Ca-alpha1;Ca-alphaID;Ca-alpha[[1]]D;Ca1D;Ca_alpha1D;Caalpha1D;D-type Ca[2+];DmCa1D;DmCa1alpha1;Dmca1D;Dmel\\CG4894;Dmel_CG4894;DroCa1;alpha1D;alpha1;ca-alpha1D;ca-alpha1d;caID;cad;dmca1D;l(2)35Fa;l35Fa", "protein_name": "Voltage-dependent calcium channel type D subunit alpha-1", "disease": [ { "disease_id": "DOID:0050534", "name": "congenital stationary night blindness", "description": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.", "url": "https://disease-ontology.org/term/DOID:0050534", "evidence": [ { "id": "0050534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050534" } ], "weight": 0.0 }, { "disease_id": "DOID:0050630", "name": "Aland Island eye disease", "description": "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.", "url": "https://disease-ontology.org/term/DOID:0050630", "evidence": [ { "id": "0050630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050630" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060173", "name": "Timothy syndrome", "description": "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.", "url": "https://disease-ontology.org/term/DOID:0060173", "evidence": [ { "id": "0060173", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060173" } ], "weight": 0.0 }, { "disease_id": "DOID:0070536", "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "description": "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.", "url": "https://disease-ontology.org/term/DOID:0070536", "evidence": [ { "id": "0070536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070536" } ], "weight": 0.0 }, { "disease_id": "DOID:0081350", "name": "congenital myopathy 18", "description": "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081350", "evidence": [ { "id": "0081350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081350" } ], "weight": 0.0 }, { "disease_id": "DOID:0110220", "name": "Brugada syndrome 3", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0110220", "evidence": [ { "id": "0110220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110220" } ], "weight": 0.0 }, { "disease_id": "DOID:0110649", "name": "long QT syndrome 8", "description": "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.", "url": "https://disease-ontology.org/term/DOID:0110649", "evidence": [ { "id": "0110649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110649" } ], "weight": 0.0 }, { "disease_id": "DOID:0110871", "name": "congenital stationary night blindness 2A", "description": "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0110871", "evidence": [ { "id": "0110871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110871" } ], "weight": 0.0 }, { "disease_id": "DOID:0111007", "name": "X-linked cone-rod dystrophy 3", "description": "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0111007", "evidence": [ { "id": "0111007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111007" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:14452", "name": "hypokalemic periodic paralysis", "description": "", "url": "https://disease-ontology.org/term/DOID:14452", "evidence": [ { "id": "14452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14452" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "detection of stimulus involved in sensory perception", "id": "GO:0050906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050906", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "detection of abiotic stimulus", "id": "GO:0009582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009582", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "detection of external stimulus", "id": "GO:0009581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009581", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" } ], "cellular_component": [ { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", 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"length": 426, "chemical_mass": 48320.0, "gene_names": "twe;BG:DS02740.1;CG4965;Cdc25;Dmel\\CG4965;Dmel_CG4965;TWINE;Twe;cdc25;l(2)35Fh;mat(2)syn-A;mat(2)synHB5;mat(2)syn[HB5];twe;twn", "protein_name": "Cdc25-like protein phosphatase twine", "disease": [ { "disease_id": "DOID:0080365", "name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.", "url": "https://disease-ontology.org/term/DOID:0080365", "evidence": [ { "id": "0080365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:2101", "name": "vulva squamous cell carcinoma", "description": "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.", "url": "https://disease-ontology.org/term/DOID:2101", "evidence": [ { "id": "2101", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2101" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", 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} ], "record_id": "Q8IRC7-1" }, { "uniprot_canonical_ac": "Q09024-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 267, "chemical_mass": 29895.0, "gene_names": "ImpL2;CG15009;CG46460;CT34862;Dmel\\CG15009;Dmel\\CG46460;Dmel_CG15009;Dmel_CG46460;GH28;IMP-L2;IMPL2;Imp-12;Imp-L2;ImpL-2;ImpL2;Impl2;imp-L2;impL2;impl2", "protein_name": "Neural/ectodermal development factor IMP-L2", "disease": [], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", 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"name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "dendrite self-avoidance", "id": "GO:0070593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070593", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "response to insect", "id": "GO:0009625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009625", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "positive regulation of entry into reproductive diapause", "id": "GO:0061965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061965", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "cell development", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" } ], "molecular_function": [ { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "insulin binding", "id": "GO:0043559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043559", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q09024-1" }, { "uniprot_canonical_ac": "P55965-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P55965", "url": "https://www.uniprot.org/uniprotkb/P55965" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 697, "chemical_mass": 72117.0, "gene_names": "byn;Bra;Byn;CG7260;D-TRA;D-Trg;DTrg;Dm-BYN;Dmel\\CG7260;Dmel_CG7260;Tra;Trg;apro;byn/apro;byn;dm-Trg;trg", "protein_name": "T-related protein", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": 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"https://www.alliancegenome.org/disease/DOID:0112223" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": 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"pmid": "" } ], "biological_process": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "N-glycan processing", "id": "GO:0006491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006491", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": 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"P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P15425-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Asn68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 68, "start_aa": "Asn", "end_pos": 68, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "P15425", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15425#ptm_processing" }, { "id": "1707759", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1707759" } ] } ] } ], "record_id": "P15425-1" }, { "uniprot_canonical_ac": "P16395-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 805, "chemical_mass": 86623.0, "gene_names": "mAChR-A;Acr60C;AcrC;CG4356;DM1;Dm-mAChR-A;Dm1;Dmel\\CG4356;mAChR A;mAChR-1;mAChR-A1;mAChR-A;mAChR;mAcR-60C;mAcR60C;mAcR;mAchR", "protein_name": "Muscarinic acetylcholine receptor DM1", "disease": [ { "disease_id": "DOID:0050214", "name": "Lambert-Eaton myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.", "url": "https://disease-ontology.org/term/DOID:0050214", "evidence": [ { "id": "0050214", "database": "AGR", "url": 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blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:365", "name": "bladder disease", "description": "A urinary system disease that is located_in the bladder.", "url": "https://disease-ontology.org/term/DOID:365", "evidence": [ { "id": "365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:365" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" } ], "biological_process": [ { "name": "adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007197", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007213", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled acetylcholine receptor activity", "id": "GO:0016907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016907", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" }, { "name": "G protein-coupled amine receptor activity", "id": "GO:0008227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008227", "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16395-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Thr476", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 476, "start_aa": "Thr", "end_pos": 476, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr476", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "P16395-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Asn65", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 65, "start_aa": "Asn", "end_pos": 65, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn65", "evidence": [ { "id": "P16395", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16395#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16395-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Asn84", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 84, "start_aa": "Asn", "end_pos": 84, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "P16395", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16395#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16395-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "P16395", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16395#ptm_processing" } ] } ] } ], "record_id": "P16395-1" }, { "uniprot_canonical_ac": "P16548-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16548", "url": "https://www.uniprot.org/uniprotkb/P16548" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 52, "chemical_mass": 5405.0, "gene_names": "Acp95EF;Acp95EF;Acp;CG17924;DTA-D;DTA-E;Dmel\\CG17924;MSP316;Mst95E;Mst95F;mst 316;mst(3)ag-3;mst-3;mst316F;mst316", "protein_name": "Accessory gland-specific peptide 95EF", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "P16548", "url": "https://www.uniprot.org/uniprotkb/P16548" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "P16548", "url": "https://www.uniprot.org/uniprotkb/P16548" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P16548", "url": "https://www.uniprot.org/uniprotkb/P16548" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P16548", "url": "https://www.uniprot.org/uniprotkb/P16548" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P16548-1" }, { "uniprot_canonical_ac": "P16909-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16909", "url": "https://www.uniprot.org/uniprotkb/P16909" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 215, "chemical_mass": 24472.0, "gene_names": "Mst77F;18c;CG3354;Dmel\\CG3354;MST77F;Mst77F;Mst77f;R1-18c;anon-77F;ms(3)nc3;mst77F;nc3", "protein_name": "Histone-like protein 18C", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P16909", "url": "https://www.uniprot.org/uniprotkb/P16909" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "P16909", "url": "https://www.uniprot.org/uniprotkb/P16909" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P16909", "url": "https://www.uniprot.org/uniprotkb/P16909" } ], "pmid": "" } ], "biological_process": [ { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "P16909", "url": "https://www.uniprot.org/uniprotkb/P16909" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P16909-1" }, { "uniprot_canonical_ac": "P16912-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 583, "chemical_mass": 65407.0, "gene_names": "Pka-C3;5-23;CG6117;DC2;Dmel\\CG6117;Dpck;PKA C3;PKA-C-3;PKA-C3;PKAC3;PKA;Pk72A;Pk?5;Pka-C3;pka-C3", "protein_name": "cAMP-dependent protein kinase catalytic subunit 3", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" }, { "name": "cAMP-dependent protein kinase activity", "id": "GO:0004691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004691", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" }, { "name": "cAMP-dependent protein kinase complex", "id": "GO:0005952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005952", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P16912", "url": "https://www.uniprot.org/uniprotkb/P16912" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P16912-1" }, { "uniprot_canonical_ac": "P17336-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 506, "chemical_mass": 57150.0, "gene_names": "Cat;CAT1;CATA;CAT;CG6871;CT21282;Cat-A;CatA;Cat;DMCATHPO;DROCATHPO;DmCAT;Dmel\\CG6871;U00145;bs36h11.y1;catalase;cat;dCAT;dCat", "protein_name": "Catalase", "disease": [ { "disease_id": "DOID:0002116", "name": "pterygium", "description": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.", "url": "https://disease-ontology.org/term/DOID:0002116", "evidence": [ { "id": "0002116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0002116" } ], "weight": 0.0 }, { "disease_id": "DOID:0050853", "name": "chronic 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"https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10300", "name": "Raynaud disease", "description": "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.", "url": "https://disease-ontology.org/term/DOID:10300", "evidence": [ { "id": "10300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10300" } ], "weight": 0.0 }, { "disease_id": "DOID:10316", "name": "pneumoconiosis", "description": "An interstitial lung disease that is caused by the inhalation of dust.", "url": "https://disease-ontology.org/term/DOID:10316", "evidence": [ { "id": "10316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10316" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9637", "name": "stomatitis", "description": "A mouth disease that is characterized by inflammation of the mouth and lips.", "url": "https://disease-ontology.org/term/DOID:9637", "evidence": [ { "id": "9637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9637" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "major mitochondrial derivative", "id": "GO:0016008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016008", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "catalase activity", "id": "GO:0004096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004096", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "paracrine signaling", "id": "GO:0038001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038001", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P17336-1" }, { "uniprot_canonical_ac": "P17644-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 576, "chemical_mass": 65506.0, "gene_names": "nAChRalpha2;Acr96Ab;AcrE;CG6844-PA;CG6844;D[a2];Da2;Dalpha2/SAD;Dalpha2;Dalpha;Dmalpha2;Dmel\\CG6844;SAD;alpha2;alpha[[2]];da2;nAChR Dalpha2;nAChR-alpha96Ab;nAChRa2;nAChRalpha-96A;nAChRalpha2;nAChR;nAcRalpha-96Ab;nAcRs;nAchRalpha-96Ab;nAcr96Ab;sad", "protein_name": "Acetylcholine receptor subunit alpha-like 2", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060682", "name": "autosomal dominant nocturnal frontal lobe epilepsy 1", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0060682", "evidence": [ { "id": "0060682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060682" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": 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"description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P27780-1" }, { "uniprot_canonical_ac": "P28285-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P28285", "url": "https://www.uniprot.org/uniprotkb/P28285" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 834, "chemical_mass": 89521.0, "gene_names": "5-HT1A;5-HT-1a;5-HT-dro2A;5-HT1ADro;5-HT1A;5-HT1a;5-HT[1A]Dro;5-HT[[1ADro]];5-HT[[1A]]DRO;5-HT[[1A]];5-HT;5HT-1A;5HT-R2A;5HT-dro2A;5HT-drp[[2A]];5HT1A;5HT1a;5HT[[1ADro]];5HT;5htdro2a;CG16720;DRO2A;Dm5-HT1A;Dm5-HT[[1A]];Dm5HTdro2A;Dmel\\CG16720;HT1A;d5-HT1A", "protein_name": "5-hydroxytryptamine receptor 2A", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to 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"regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], 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"https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "protein-transporting ATPase activity", "id": "GO:0015450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015450", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P29844", "url": "https://www.uniprot.org/uniprotkb/P29844" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P29844-1" }, { "uniprot_canonical_ac": "P31007-2", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 970, "chemical_mass": 106673.0, "gene_names": "dlg1;11;CG1725;CG1730;CPD;DLG-A;DLG1;DLG;Discs Large;Discs-large;Dlg-A;Dlg1;DlgA;DlgS97;Dlg;Dmel\\CG1725;Drodlg;PSD-95;PSD95;SAP97;anon-EST:Posey93;anon-WO03040301.258;anon-WO03040301.260;anon-WO03040301.268;d. lg.-1;dlg-1;dlg-A;dlg1;dlgA;dlgS97;dlg;l(1)10Bf;l(1)G0276;l(1)G0342;l(1)G0456;l(1)G19;l(1)L11;l(1)bwn;l(1)d.lg-1;l(1)d.lg.-1;l(1)discs large;l(1)dlg-1;l(1)dlg1;l(1)dlg;l(1)l.pr.-2;l(1)lpr-2;misb", "protein_name": "Disks large 1 tumor suppressor protein", "disease": [ { "disease_id": "DOID:0050776", "name": "non-syndromic X-linked intellectual disability", "description": "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0050776", "evidence": [ { "id": "0050776", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ], "weight": 0.0 }, { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060072", "name": "benign neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.", "url": "https://disease-ontology.org/term/DOID:0060072", "evidence": [ { "id": "0060072", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060072" } ], "weight": 0.0 }, { "disease_id": "DOID:0060419", "name": "chromosome 3q29 microdeletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.", "url": "https://disease-ontology.org/term/DOID:0060419", "evidence": [ { "id": "0060419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060419" } ], "weight": 0.0 }, { "disease_id": "DOID:0061035", "name": "autosomal dominant intellectual developmental disorder 62", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0061035", "evidence": [ { "id": "0061035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061035" } ], "weight": 0.0 }, { "disease_id": "DOID:0112041", "name": "non-syndromic X-linked intellectual disability 90", "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1.", "url": "https://disease-ontology.org/term/DOID:0112041", "evidence": [ { "id": "0112041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112041" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full 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uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GMP kinase activity", "id": "GO:0004385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004385", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" } ], "biological_process": [ { "name": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "establishment of spindle orientation", "id": "GO:0051294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051294", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "mating behavior", "id": "GO:0007617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007617", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042058", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045197", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "asymmetric protein localization involved in cell fate determination", "id": "GO:0045167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045167", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "basal protein localization", "id": "GO:0045175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045175", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "establishment or maintenance of polarity of follicular epithelium", "id": "GO:0016334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016334", "evidence": [ { 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"GO:0030714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030714", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cell fate commitment involved in pattern specification", "id": "GO:0060581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060581", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" } ], "cellular_component": [ { "name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "leading edge membrane", "id": "GO:0031256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031256", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "tricellular tight junction", "id": "GO:0061689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061689", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "septate junction", "id": "GO:0005918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005918", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "smooth septate junction", "id": "GO:0005920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005920", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "type I terminal bouton", "id": "GO:0061174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061174", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "type Ib terminal bouton", "id": "GO:0061176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061176", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "subsynaptic reticulum", "id": "GO:0071212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071212", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31007-2", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P31007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31007" } ] } ] }, { "uniprot_canonical_ac": "P31007-2", "start_pos": "714", "end_pos": "714", "site_lbl": "Thr714", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P31007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31007" } ] } ] } ], "record_id": "P31007-2" }, { "uniprot_canonical_ac": "P32027-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 508, "chemical_mass": 54517.0, "gene_names": "croc;CG5069;Croc;Dm-FoxC;Dmel\\CG5069;Dmfd1;FD1;FD78E;FoxC;croc;fd1;fd78E", "protein_name": "Fork head domain-containing protein crocodile", "disease": [ { "disease_id": "DOID:0060260", "name": "ptosis", "description": "An eye disease characterized by the drooping or falling of the upper or lower eyelid.", "url": "https://disease-ontology.org/term/DOID:0060260", "evidence": [ { "id": "0060260", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060260" } ], "weight": 0.0 }, { "disease_id": "DOID:0080608", "name": "anterior segment dysgenesis 3", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0080608", "evidence": [ { "id": "0080608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080608" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:0111509", "name": "lymphedema-distichiasis syndrome", "description": "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.", "url": "https://disease-ontology.org/term/DOID:0111509", "evidence": [ { "id": "0111509", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111509" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:14686", "name": "Axenfeld-Rieger syndrome", "description": "An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.", "url": "https://disease-ontology.org/term/DOID:14686", "evidence": [ { "id": "14686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14686" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:4977", "name": "lymphedema", "description": "A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.", "url": "https://disease-ontology.org/term/DOID:4977", "evidence": [ { "id": "4977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4977" } ], "weight": 0.0 }, { "disease_id": "DOID:530", "name": "eyelid disease", "description": "An adnexa disease that is located_in the eyelid.", "url": "https://disease-ontology.org/term/DOID:530", "evidence": [ { "id": "530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:530" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" } ], 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], "pmid": "" }, { "name": "specification of segmental identity, head", "id": "GO:0007380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007380", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P32027-1" }, { "uniprot_canonical_ac": "P32029-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 271, "chemical_mass": 31013.0, "gene_names": "fd96Cb;CG11922;Dm-FoxB2;Dmel\\CG11922;Dmfd5;FD5;FoxB;fd5;fd96Cb", "protein_name": "Fork head domain-containing protein FD5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"https://www.uniprot.org/uniprotkb/P33450" } ], "pmid": "" }, { "name": "establishment of imaginal disc-derived wing hair orientation", "id": "GO:0001737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001737", "evidence": [ { "database": "UniProtKB", "id": "P33450", "url": "https://www.uniprot.org/uniprotkb/P33450" } ], "pmid": "" }, { "name": "imaginal disc growth", "id": "GO:0007446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007446", "evidence": [ { "database": "UniProtKB", "id": "P33450", "url": "https://www.uniprot.org/uniprotkb/P33450" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P33450", "url": "https://www.uniprot.org/uniprotkb/P33450" } ], "pmid": "" }, { "name": "regulation of tube length, open tracheal system", "id": "GO:0035159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035159", "evidence": [ { "database": 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"name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P40794-1" }, { "uniprot_canonical_ac": "P40807-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P40807", "url": "https://www.uniprot.org/uniprotkb/P40807" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 394, "chemical_mass": 44195.0, "gene_names": 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dehydrogenase (decarboxylating) activity", "id": "GO:0004616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004616", "evidence": [ { "database": "UniProtKB", "id": "P41572", "url": "https://www.uniprot.org/uniprotkb/P41572" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P41572", "url": "https://www.uniprot.org/uniprotkb/P41572" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P41572-1" }, { "uniprot_canonical_ac": "P42281-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P42281", "url": "https://www.uniprot.org/uniprotkb/P42281" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 86, "chemical_mass": 9557.0, "gene_names": 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"evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" } ], "cellular_component": [ { "name": "dynactin complex", "id": "GO:0005869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005869", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "P45889", "url": "https://www.uniprot.org/uniprotkb/P45889" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P45889-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Thr352", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 352, "start_aa": "Thr", "end_pos": 352, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr352", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "P45889", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P45889" } ] } ] } ], "record_id": "P45889-1" }, { "uniprot_canonical_ac": "P45891-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 42030.0, "gene_names": "Arp53D;ARP53D;Actr53D;Arp53D;ArpG;Arp_G;CG5409;Dmel\\CG5409;arp53D;arp5", "protein_name": "Actin-like protein 53D", "disease": [ { "disease_id": "DOID:0070585", "name": "spermatogenic failure 86", "description": "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3.", "url": "https://disease-ontology.org/term/DOID:0070585", "evidence": [ { "id": "0070585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070585" } ], 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A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081339", "name": "congenital myopathy 2B", "description": "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0081339", "evidence": [ { "id": "0081339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081339" } ], "weight": 0.0 }, { "disease_id": "DOID:0081340", "name": "congenital myopathy 2C", "description": "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).", "url": "https://disease-ontology.org/term/DOID:0081340", "evidence": [ { "id": "0081340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081340" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:0110927", "name": "nemaline myopathy 3", "description": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0110927", "evidence": [ { "id": "0110927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110927" } ], "weight": 0.0 }, { "disease_id": "DOID:0112279", "name": "spermatogenic failure 53", "description": "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0112279", "evidence": [ { "id": "0112279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112279" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" }, { "name": "fusome", "id": "GO:0045169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045169", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" }, { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P45891-1" }, { "uniprot_canonical_ac": "P46415-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 379, "chemical_mass": 40389.0, "gene_names": "Fdh;ADHX_DROME;ADHX;CG6598;Dmel\\CG6598;Fdh;GSNOR;ODH;Odh;fdh;gfd/odh;gfd;odh", "protein_name": "Alcohol dehydrogenase class-3", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": "https://disease-ontology.org/term/DOID:0060892", "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ], "weight": 0.0 }, { "disease_id": "DOID:0080952", "name": "AMED syndrome", "description": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.", "url": "https://disease-ontology.org/term/DOID:0080952", "evidence": [ { "id": "0080952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080952" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "alcohol dehydrogenase (NAD+) activity", "id": "GO:0004022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004022", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity", "id": "GO:0051903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051903", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "octanol dehydrogenase (NAD+) activity", "id": "GO:0004552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004552", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-nitrosoglutathione reductase (NADH) activity", "id": "GO:0080007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080007", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase (NADP+) activity", "id": "GO:0106321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106321", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase (NAD+) activity", "id": "GO:0106322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106322", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" } ], "biological_process": [ { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "formaldehyde catabolic process", "id": "GO:0046294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046294", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } 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disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 41835.0, "gene_names": "Act57B;ACT3;Act57A;Act57B;Act57b;Act57;Actin-57B;Actin;ArpE;BEST:RE38067;CG10067;CG30294;C;Dmel\\CG10067;M;T10;act 57A;act57A;act57B;act57b;actin-57B;actin;anon-EST:CL2c12;chr2R:16452771..16452966", "protein_name": "Actin-57B", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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] } ] }, { "uniprot_canonical_ac": "P54269-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Thr477", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 477, "start_aa": "Thr", "end_pos": 477, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr477", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "P54269-1" }, { "uniprot_canonical_ac": "P54352-2", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P54352", "url": "https://www.uniprot.org/uniprotkb/P54352" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 495, "chemical_mass": 56842.0, "gene_names": "eas;CG3525;Dmel\\CG3525;EP770;EtnK;PC80;RE10142;RH11;ala;eas", "protein_name": "Ethanolamine kinase", "disease": [ { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P91615-1" }, { "uniprot_canonical_ac": "P91926-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P91926", "url": "https://www.uniprot.org/uniprotkb/P91926" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 940, "chemical_mass": 105620.0, "gene_names": "AP-2alpha;AP-2alpha;AP-2;AP2alpha;AP2;Ada;Alpha-Adaptin;Ap-2alpha;CG31654;CG4260;D-Ada;D-alphaAda;Dmel\\CG4260;MENE (2L)-A;MENE(2L)-A;ada;alpha-Adaptin;alpha-Ada;alpha-adaptin;alpha-ada;alphaAda;alphaada;alpha;apl3;cg4260;dAP-2a;l(2)06694;l(2)SH0460;l(2)SH2 0460", "protein_name": "AP-2 complex subunit alpha", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"https://disease-ontology.org/term/DOID:0111380", "evidence": [ { "id": "0111380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111380" } ], "weight": 0.0 }, { "disease_id": "DOID:0111564", "name": "hypoplastic or aplastic tibia with polydactyly", "description": "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111564", "evidence": [ { "id": "0111564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111564" } ], "weight": 0.0 }, { "disease_id": "DOID:0111774", "name": "46,XY sex reversal 7", "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0111774", "evidence": [ { "id": "0111774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111774" } ], "weight": 0.0 }, { "disease_id": "DOID:0111816", "name": "syndactyly type 1", "description": "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.", "url": "https://disease-ontology.org/term/DOID:0111816", "evidence": [ { "id": "0111816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111816" } ], "weight": 0.0 }, { "disease_id": "DOID:0111818", "name": "syndactyly type 4", "description": "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111818", "evidence": [ { "id": "0111818", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111818" } ], "weight": 0.0 }, { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:1148", "name": "polydactyly", "description": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.", "url": "https://disease-ontology.org/term/DOID:1148", "evidence": [ { "id": "1148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1148" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "disease_id": "DOID:14448", "name": "46,XY complete gonadal dysgenesis", "description": "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.", "url": "https://disease-ontology.org/term/DOID:14448", "evidence": [ { "id": "14448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14448" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:14679", "name": "VACTERL association", "description": "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.", "url": "https://disease-ontology.org/term/DOID:14679", "evidence": [ { "id": "14679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14679" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2512", "name": "nevoid basal cell carcinoma syndrome", "description": "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.", "url": "https://disease-ontology.org/term/DOID:2512", "evidence": [ { "id": "2512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2512" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4621", "name": "holoprosencephaly", "description": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.", "url": "https://disease-ontology.org/term/DOID:4621", "evidence": [ { "id": "4621", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "ventral midline development", "id": "GO:0007418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007418", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "mucosal immune response", "id": "GO:0002385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002385", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "negative regulation of homotypic cell-cell adhesion", "id": "GO:0034111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034111", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "intein-mediated protein splicing", "id": "GO:0016539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016539", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "Bolwig's organ morphogenesis", "id": "GO:0001746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001746", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "compound eye photoreceptor cell differentiation", "id": "GO:0001751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001751", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "epithelial cell migration, open tracheal system", "id": "GO:0007427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007427", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "imaginal disc growth", "id": "GO:0007446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007446", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "progression of morphogenetic furrow involved in compound eye morphogenesis", "id": "GO:0007458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007458", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "wing disc proximal/distal pattern formation", "id": "GO:0007473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007473", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "leg disc morphogenesis", "id": "GO:0007478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007478", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "analia development", "id": "GO:0007487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007487", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "morphogenesis of larval imaginal disc epithelium", "id": "GO:0016335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016335", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "terminal cell fate specification, open tracheal system", "id": "GO:0035154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035154", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", 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showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.", "url": "https://disease-ontology.org/term/DOID:0112151", "evidence": [ { "id": "0112151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112151" } ], "weight": 0.0 }, { "disease_id": "DOID:0112238", "name": "X-linked lissencephaly 2", "description": "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.", "url": "https://disease-ontology.org/term/DOID:0112238", "evidence": [ { "id": "0112238", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112238" } ], "weight": 0.0 }, { "disease_id": "DOID:14744", "name": "Partington syndrome", "description": "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.", "url": "https://disease-ontology.org/term/DOID:14744", "evidence": [ { "id": "14744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14744" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" } ], "biological_process": [ { "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": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "leg disc development", "id": "GO:0035218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035218", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "antennal morphogenesis", "id": "GO:0048800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048800", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "elongation of arista core", "id": "GO:0035015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035015", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" } ], "molecular_function": [ { "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": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q06453", "url": "https://www.uniprot.org/uniprotkb/Q06453" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q06453-1" }, { "uniprot_canonical_ac": "Q07093-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 676, "chemical_mass": 75663.0, "gene_names": "Gycalpha99B;CG1912;Dgc1;Dgcalpha1;Dmel\\CG1912;GCalpha1;GYC-ALPHA-63A;GYCa 99B;GYC;Gcalpha1;Gyc99B;Gycalpha-99B;Gycalpha63A;Gycalpha99B;SGCalpha;dgc1;dgca1;dgcalpha1;gycalpha;sGC-alpha;sGCalpha1;sGCalpha99B;sGC", "protein_name": "Head-specific guanylate cyclase", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "guanylate cyclase activity", "id": "GO:0004383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004383", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" } ], "cellular_component": [ { "name": "guanylate cyclase complex, soluble", "id": "GO:0008074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008074", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "G protein-coupled opsin signaling pathway", "id": "GO:0016056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016056", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "positive phototaxis", "id": "GO:0046956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046956", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q07093-1" }, { "uniprot_canonical_ac": "Q07407-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 729, "chemical_mass": 82586.0, "gene_names": "htl;CG7223;CT22273;CT39172;DFGF-R1;DFGF-R2;DFR-1;DFR1/DFGF-R2;DFR1;DPR3;DTRK(FR1);Dfr-1;Dfr1;DmHD-38;Dmel\\CG7223;Dtk1;EMS2;FGF-R2;FGFR2;FGFR;FR1;Fr1;HD-38;HTL/FGFR1;Htl;Tk1;dtk1;htl;i100;i150;i79;j372", "protein_name": "Fibroblast growth factor receptor homolog 1", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0050660", "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ], "weight": 0.0 }, { "disease_id": "DOID:0050736", "name": "autosomal dominant disease", "description": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.", "url": "https://disease-ontology.org/term/DOID:0050736", "evidence": [ { "id": "0050736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050736" } ], "weight": 0.0 }, { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "description": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0060597", "evidence": [ { "id": "0060597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060597" } ], "weight": 0.0 }, { "disease_id": "DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "disease_id": "DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080041", "evidence": [ { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.", "url": "https://disease-ontology.org/term/DOID:0081371", "evidence": [ { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ], "weight": 0.0 }, { "disease_id": "DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "url": "https://disease-ontology.org/term/DOID:0090078", "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ], "weight": 0.0 }, { "disease_id": "DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.", "url": "https://disease-ontology.org/term/DOID:0090083", "evidence": [ { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ], "weight": 0.0 }, { "disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0111532", "evidence": [ { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8445", "name": "intestinal volvulus", "description": "An intestinal obstruction characterized by abnormal rotation of the intestines.", "url": "https://disease-ontology.org/term/DOID:8445", "evidence": [ { "id": "8445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8445" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 }, { "disease_id": "DOID:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the 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"name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "description": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0060597", "evidence": [ { "id": "0060597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060597" } ], "weight": 0.0 }, { "disease_id": "DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "disease_id": "DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080041", "evidence": [ { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.", "url": "https://disease-ontology.org/term/DOID:0081371", "evidence": [ { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ], "weight": 0.0 }, { "disease_id": "DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "url": "https://disease-ontology.org/term/DOID:0090078", "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ], "weight": 0.0 }, { "disease_id": "DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.", "url": "https://disease-ontology.org/term/DOID:0090083", "evidence": [ { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ], "weight": 0.0 }, { "disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0111532", "evidence": [ { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. 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The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8445", "name": "intestinal volvulus", "description": "An intestinal obstruction characterized by abnormal rotation of the intestines.", "url": "https://disease-ontology.org/term/DOID:8445", "evidence": [ { "id": "8445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8445" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 }, { "disease_id": "DOID:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", "evidence": [ { "database": "UniProtKB", "id": "Q09147", "url": "https://www.uniprot.org/uniprotkb/Q09147" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q09147", "url": "https://www.uniprot.org/uniprotkb/Q09147" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q09147", "url": "https://www.uniprot.org/uniprotkb/Q09147" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q09147", "url": "https://www.uniprot.org/uniprotkb/Q09147" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ 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"record_id": "Q24049-1" }, { "uniprot_canonical_ac": "Q24090-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 370, "chemical_mass": 41911.0, "gene_names": "Snr1;BAP45;CG1064;Dmel\\CG1064;Dmel_CG1064;SNR1;Snr-1;Snr1/BAP45;Snr1;Snr;l(3)01319;snr-1;snr1;snr", "protein_name": "", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0070045", "name": "Coffin-Siris syndrome 3", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.", "url": "https://disease-ontology.org/term/DOID:0070045", "evidence": [ { "id": "0070045", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070045" } ], "weight": 0.0 }, { "disease_id": "DOID:0070480", "name": "schwannomatosis 1", "description": "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.", "url": "https://disease-ontology.org/term/DOID:0070480", "evidence": [ { "id": "0070480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070480" } ], "weight": 0.0 }, { "disease_id": "DOID:0070618", "name": "rhabdoid tumor predisposition syndrome 1", "description": "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11.", "url": "https://disease-ontology.org/term/DOID:0070618", "evidence": [ { "id": "0070618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070618" } ], "weight": 0.0 }, { "disease_id": "DOID:0080799", "name": "sinonasal undifferentiated carcinoma", "description": "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.", "url": "https://disease-ontology.org/term/DOID:0080799", "evidence": [ { "id": "0080799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080799" } ], "weight": 0.0 }, { "disease_id": "DOID:0111252", "name": "vestibular schwannomatosis", "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.", "url": "https://disease-ontology.org/term/DOID:0111252", "evidence": [ { "id": "0111252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111252" } ], "weight": 0.0 }, { "disease_id": "DOID:2129", "name": "atypical teratoid rhabdoid tumor", "description": "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:2129", "evidence": [ { "id": "2129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2129" } ], "weight": 0.0 }, { "disease_id": "DOID:3204", "name": "schwannomatosis", "description": "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.", "url": "https://disease-ontology.org/term/DOID:3204", "evidence": [ { "id": "3204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3204" } ], "weight": 0.0 }, { "disease_id": "DOID:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.", "url": "https://disease-ontology.org/term/DOID:3565", "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ], "weight": 0.0 }, { "disease_id": "DOID:3672", "name": "rhabdoid cancer", "description": "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.", "url": "https://disease-ontology.org/term/DOID:3672", "evidence": [ { "id": "3672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3672" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:5485", "name": "synovial sarcoma", "description": "A synovium cancer which develops in the synovial membrane of the joints.", "url": "https://disease-ontology.org/term/DOID:5485", "evidence": [ { "id": "5485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5485" } ], "weight": 0.0 }, { "disease_id": "DOID:6193", "name": "epithelioid sarcoma", "description": "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.", "url": "https://disease-ontology.org/term/DOID:6193", "evidence": [ { "id": "6193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6193" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "Tat protein binding", "id": "GO:0030957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030957", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "SET domain binding", "id": "GO:0070984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070984", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "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": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "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": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein morphogenesis", "id": "GO:0008586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008586", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "imaginal disc-derived wing margin morphogenesis", "id": "GO:0008587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008587", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" }, { "name": "dendrite guidance", "id": "GO:0070983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070983", "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q24090-1" }, { "uniprot_canonical_ac": "Q24114-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 626, "chemical_mass": 69031.0, "gene_names": "dally;CG4974;CT15952;Dally;Dmel\\CG4974;anon-EST:Liang-1.63;clone 1.63;dally;gem;l(3)06464;l(3)SG18", "protein_name": "Division abnormally delayed protein", "disease": [ { "disease_id": "DOID:0060248", "name": "Simpson-Golabi-Behmel syndrome type 1", "description": "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0060248", "evidence": [ { "id": "0060248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060248" } ], "weight": 0.0 }, { "disease_id": "DOID:2129", "name": "atypical teratoid rhabdoid tumor", "description": "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:2129", "evidence": [ { "id": "2129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2129" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:3596", "name": "placental site trophoblastic tumor", "description": "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.", "url": "https://disease-ontology.org/term/DOID:3596", "evidence": [ { "id": "3596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3596" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sensory organ boundary specification", "id": "GO:0008052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008052", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q24114", "url": "https://www.uniprot.org/uniprotkb/Q24114" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": 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"icn3d_view": {}, "start_pos": 470, "start_aa": "Asn", "end_pos": 470, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn470", "evidence": [ { "id": "Q24238", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q24238#ptm_processing" } ] } ] } ], "record_id": "Q24238-1" }, { "uniprot_canonical_ac": "Q24246-11", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 663, "chemical_mass": 73917.0, "gene_names": "sw;17-234;CG18000;Cdic2b;Cdic;DIC;Dic19B;Dic19C;Dic;Dmel\\CG18000;IC74;IC;cDIC;dic;l(1)19Bb;sw CES;sw", "protein_name": "Cytoplasmic dynein 1 intermediate chain", "disease": [ { "disease_id": "DOID:0070296", "name": "autosomal recessive primary microcephaly", "description": "A primary microcephaly characterized by 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"UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "cytoplasmic dynein complex", "id": "GO:0005868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005868", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" } ], "biological_process": [ { "name": "axo-dendritic transport", "id": "GO:0008088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008088", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "transport along microtubule", "id": "GO:0010970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010970", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "protein localization to kinetochore", "id": "GO:0034501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034501", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "eye photoreceptor cell differentiation", "id": "GO:0001754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001754", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q24246-11" }, { "uniprot_canonical_ac": "Q24247-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1146, "chemical_mass": 127973.0, "gene_names": "mew;CG1771;CT5254;Dmel\\CG1771;Dmel_CG1771;Integrin alpha PS1;ItgaPS1;Mew;PS1alpha;PS1;PSalpha1;aPS1;alpha integrin;alpha-PS1;alpha1Int;alphaPS1;alpha[[PS1]];l(1)G0429;l(1)G0443;mew", "protein_name": "Integrin alpha-PS1", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0060733", "name": "junctional epidermolysis bullosa with pyloric atresia", "description": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.", "url": "https://disease-ontology.org/term/DOID:0060733", "evidence": [ { "id": "0060733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060733" } ], "weight": 0.0 }, { "disease_id": "DOID:0060737", "name": "junctional epidermolysis 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The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060737", "evidence": [ { "id": "0060737", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060737" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0110639", "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0110639", "evidence": [ { "id": "0110639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110639" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3209", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.", "url": "https://disease-ontology.org/term/DOID:3209", "evidence": [ { "id": "3209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3209" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": 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dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3007", "name": "breast ductal carcinoma", "description": "A breast carcinoma that derives_from the lining of milk ducts.", "url": "https://disease-ontology.org/term/DOID:3007", "evidence": [ { "id": "3007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3007" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "caspase binding", "id": "GO:0089720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089720", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase regulator activity involved in apoptotic process", "id": "GO:0043028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043028", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "positive regulation of biosynthetic process of antibacterial peptides active against Gram-negative bacteria", "id": "GO:0006964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006964", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "peptidoglycan recognition protein signaling pathway", "id": "GO:0061057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061057", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24307-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asp100", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of caspase-mediated cleavage, failure to protect against Drice-mediated cell death and loss of binding to Drice.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Cys149", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "No effect on binding to Drice or Dredd.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Asp163", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on binding to Drice. Loss of immunity to Gram-negative bacteria; when associated with A-263.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Cys249", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Abolishes binding to Drice and fails to inhibit cell death. No effect on binding to Dredd.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Asp263", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes binding to Drice. Loss of immunity to Gram-negative bacteria; when associated with A-163.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Cys466", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Fails to bind to Dredd and promote its polyubiquitylation.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asp92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on caspase-mediated cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" } ] } ] } ], "record_id": "Q24307-1" }, { "uniprot_canonical_ac": "Q24311-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 774, "chemical_mass": 89511.0, "gene_names": "Cul1;CG1877;CUL1;Cul-1;Cul1;Cullin-1;Cullin1;Dmel\\CG1877;Lin-19;Lin19;Q9V312;cul-1;cul1;dCUL1;dCul-1;dCul1;dmCUL1;l(2)02074;l(2)k01207;lin 19;lin-19/cul-1;lin19-like;lin19", "protein_name": "Cullin homolog 1", "disease": [], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of antimicrobial peptide production", "id": "GO:0002785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002785", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of peptidoglycan recognition protein signaling pathway", "id": "GO:0061060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061060", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { 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The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060652", "name": "familial erythrocytosis 1", "description": "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. 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"evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": 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an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:2228", "name": "thrombocytosis", "description": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "primary sex determination", "id": "GO:0007538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007538", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "positive regulation of heterochromatin formation", "id": "GO:0031453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031453", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "male germ-line sex determination", "id": "GO:0019100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019100", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "periodic partitioning", "id": "GO:0007365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007365", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "haltere disc morphogenesis", "id": "GO:0007481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007481", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "mediolateral intercalation", "id": "GO:0060031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060031", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "compound eye photoreceptor cell differentiation", "id": "GO:0001751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001751", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "leg disc morphogenesis", "id": "GO:0007478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007478", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "ommatidial rotation", "id": "GO:0016318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016318", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "follicle cell of egg chamber stalk formation", "id": "GO:0030713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030713", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "larval lymph gland hemopoiesis", "id": "GO:0035167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035167", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "establishment of ommatidial planar polarity", "id": "GO:0042067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042067", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "hemocyte differentiation", "id": "GO:0042386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042386", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "equator specification", "id": "GO:0045317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045317", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": 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"url": "https://www.uniprot.org/uniprotkb/Q24592" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q24592", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q24592" } ] } ] }, { "uniprot_canonical_ac": "Q24592-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q24592", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q24592" } ] } ] } ], "record_id": "Q24592-1" }, { "uniprot_canonical_ac": "Q26365-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": 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"id": "0080130", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080130" } ], "weight": 0.0 }, { "disease_id": "DOID:0080335", "name": "mitochondrial DNA depletion syndrome 12b", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0080335", "evidence": [ { "id": "0080335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080335" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.", "url": "https://disease-ontology.org/term/DOID:0111517", "evidence": [ { "id": "0111517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111517" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11727", "name": "facioscapulohumeral muscular dystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11727", "evidence": [ { "id": "11727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11727" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": 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brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:699", "name": "mitochondrial myopathy", "description": "A myopathy that is characterized by mitochondrial dysfunction.", "url": "https://disease-ontology.org/term/DOID:699", "evidence": [ { "id": "699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:699" } ], "weight": 0.0 }, { "disease_id": "DOID:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial 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"name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "mitochondrial ADP transmembrane transport", "id": "GO:0140021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140021", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "mitochondrial ATP transmembrane transport", "id": "GO:1990544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990544", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "ATP:ADP antiporter activity", "id": "GO:0005471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005471", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "synapse", "id": 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"Adult cuticle protein 1", "disease": [], "biological_process": [ { "name": "adult chitin-based cuticle development", "id": "GO:0008365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008365", "evidence": [ { "database": "UniProtKB", "id": "Q26416", "url": "https://www.uniprot.org/uniprotkb/Q26416" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of adult chitin-based cuticle", "id": "GO:0008012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008012", "evidence": [ { "database": "UniProtKB", "id": "Q26416", "url": "https://www.uniprot.org/uniprotkb/Q26416" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q26416-1" }, { "uniprot_canonical_ac": "Q27367-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 491, "chemical_mass": 56154.0, "gene_names": "crq;CD36;CG31655;CG4280;CRQ;Cd36;Cqr;Croquemort;Crq;D-CD36;Dmel\\CG4280;anon-WO0140519.8;cqm;cqr;crq", "protein_name": "Protein croquemort", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "biological_process": [ { "name": "phagosome maturation", "id": "GO:0090382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090382", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q27367", "url": "https://www.uniprot.org/uniprotkb/Q27367" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q27367-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", 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"", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 260, "start_aa": "Asn", "end_pos": 260, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn260", "evidence": [ { "id": "Q27367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q27367#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q27367-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Asn446", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 446, "start_aa": "Asn", "end_pos": 446, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn446", "evidence": [ { "id": "Q27367", 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"UniProtKB", "id": "Q27589", "url": "https://www.uniprot.org/uniprotkb/Q27589" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 501, "chemical_mass": 57917.0, "gene_names": "Cyp4d2;4d2;CG3466;CYP4D2;Cyp4D2;Cyp4d2;Cyt-P450-4D2;Dmel\\CG3466;EG:152A3.4;P-450;P450", "protein_name": "Cytochrome P450 4d2", "disease": [ { "disease_id": "DOID:0050664", "name": "Bietti crystalline corneoretinal dystrophy", "description": "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0050664", "evidence": [ { "id": "0050664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050664" } ], "weight": 0.0 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"url": "https://www.uniprot.org/uniprotkb/Q27593" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q27593-1" }, { "uniprot_canonical_ac": "Q27594-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27594", "url": "https://www.uniprot.org/uniprotkb/Q27594" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 504, "chemical_mass": 58005.0, "gene_names": "Cyp6a9;6a9;CG10246;CYP6A9;CYP6a9;Cyp6A9;Cyp6a9;Cyt-P450-rAF4;Dmel\\CG10246;P-450;P450", "protein_name": "Cytochrome P450 6a9", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on 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"https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q5BI31", "url": "https://www.uniprot.org/uniprotkb/Q5BI31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5BI31-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Thr899", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 899, "start_aa": "Thr", "end_pos": 899, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr899", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q5BI31-1" }, { "uniprot_canonical_ac": "Q5EAK6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2767, "chemical_mass": 317991.0, "gene_names": "tefu;ATM;Atm;CG6535;Dmel\\CG6535;Tefu;atm/tefu;atm;dATM;tefu/atm;tefu;tef", "protein_name": "Serine/threonine-protein kinase ATM", "disease": [ { "disease_id": "DOID:0050671", "name": "female breast cancer", "description": "A breast cancer that develops from breast tissue in females.", "url": "https://disease-ontology.org/term/DOID:0050671", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 } ], "biological_process": [ { "name": "subtelomeric heterochromatin formation", "id": "GO:0031509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031509", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "meiotic DNA double-strand break processing", "id": "GO:0000706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000706", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of glial cell apoptotic process", "id": "GO:0034351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034351", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "histone kinase activity", "id": "GO:0035173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035173", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"record_id": "Q7JUN3-1" }, { "uniprot_canonical_ac": "Q7JV70-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JV70", "url": "https://www.uniprot.org/uniprotkb/Q7JV70" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 193, "chemical_mass": 22622.0, "gene_names": "Arc2;Arc2;BcDNA:SD11637;CG13941;Dmel\\CG13941;anon-WO0118547.456;dARC2;dArc2", "protein_name": "Activity-regulated cytoskeleton associated protein 2", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } 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"Q7JV70", "url": "https://www.uniprot.org/uniprotkb/Q7JV70" } ], "pmid": "" }, { "name": "virus-like capsid", "id": "GO:0170047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170047", "evidence": [ { "database": "UniProtKB", "id": "Q7JV70", "url": "https://www.uniprot.org/uniprotkb/Q7JV70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7JV70-1" }, { "uniprot_canonical_ac": "Q7JVA5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JVA5", "url": "https://www.uniprot.org/uniprotkb/Q7JVA5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 476, "chemical_mass": 54448.0, "gene_names": "Cep89;CEP89;CG8214;Cep89;Dmel\\CG8214;cep89", "protein_name": "Protein Cep89 homolog", "disease": [ { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that 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"biological_process": [ { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q7JVA5", "url": "https://www.uniprot.org/uniprotkb/Q7JVA5" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q7JVA5", "url": "https://www.uniprot.org/uniprotkb/Q7JVA5" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q7JVA5", "url": "https://www.uniprot.org/uniprotkb/Q7JVA5" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q7JVA5", "url": "https://www.uniprot.org/uniprotkb/Q7JVA5" } ], "pmid": "" }, { "name": 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"biomarkers": [], "sites": [], "record_id": "Q7JWD3-1" }, { "uniprot_canonical_ac": "Q7JWP6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JWP6", "url": "https://www.uniprot.org/uniprotkb/Q7JWP6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 221, "chemical_mass": 24357.0, "gene_names": "HipHop;BcDNA:RE10558;CG6874;Dmel\\CG6874;HIPHOP;HipHop;Hiphop;hiphop;l(3)neo26", "protein_name": "HP1-HOAP-interacting protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7JWP6", "url": "https://www.uniprot.org/uniprotkb/Q7JWP6" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q7JWP6", "url": "https://www.uniprot.org/uniprotkb/Q7JWP6" } ], "pmid": "" } ], "biological_process": [ { "name": "telomere capping", "id": "GO:0016233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016233", "evidence": [ { "database": "UniProtKB", "id": "Q7JWP6", "url": "https://www.uniprot.org/uniprotkb/Q7JWP6" } ], "pmid": "" }, { "name": "protection from non-homologous end joining at telomere", "id": "GO:0031848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031848", "evidence": [ { "database": "UniProtKB", "id": "Q7JWP6", "url": "https://www.uniprot.org/uniprotkb/Q7JWP6" } ], "pmid": "" }, { "name": "CENP-A containing chromatin assembly", "id": "GO:0034080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034080", "evidence": [ { "database": "UniProtKB", "id": "Q7JWP6", "url": "https://www.uniprot.org/uniprotkb/Q7JWP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7JWP6-1" }, { "uniprot_canonical_ac": "Q7JWW5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JWW5", "url": "https://www.uniprot.org/uniprotkb/Q7JWW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 343, "chemical_mass": 38521.0, "gene_names": "Ctu1;CG8078;Ctu1;Dmel\\CG8078;anon-WO0118547.76", "protein_name": "Cytoplasmic tRNA 2-thiolation protein 1", "disease": [], "biological_process": [ { "name": "tRNA wobble position uridine thiolation", "id": "GO:0002143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002143", "evidence": [ { "database": "UniProtKB", "id": "Q7JWW5", "url": "https://www.uniprot.org/uniprotkb/Q7JWW5" } ], "pmid": "" }, { "name": "tRNA thio-modification", "id": "GO:0034227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034227", "evidence": [ { "database": "UniProtKB", "id": "Q7JWW5", "url": "https://www.uniprot.org/uniprotkb/Q7JWW5" } ], "pmid": "" }, { "name": "tRNA wobble 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No effect on binding to Diap2 or Fadd, processing, dimerization, catalytic activity or stability.", "evidence": [ { "database": "UniProtKB", "id": "Q8IRY7", "url": "https://www.uniprot.org/uniprotkb/Q8IRY7" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" }, { "database": "PubMed", "id": "11269502", "url": "https://glygen.org/publication/PubMed/11269502" } ] } ] } ], "record_id": "Q8IRY7-1" }, { "uniprot_canonical_ac": "Q8MPP3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 758, "chemical_mass": 89137.0, "gene_names": "Mmp2;2-MMP;CG1794;Dm2-MMP;Dmel\\CG1794;MMP2;Mmp2;SN2-2;anon-WO0118547.84;dMMP2;dm-2MMP;dmmp2;l(2)02353;mmp2", "protein_name": "Matrix metalloproteinase-2", 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"evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": 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"https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 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factor receptor signaling pathway", "id": "GO:0040037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040037", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "embryonic heart tube formation", "id": "GO:0003144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003144", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "ovulation", "id": "GO:0030728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030728", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "basement membrane disassembly", "id": "GO:0034769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034769", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "tracheal pit formation in open tracheal system", "id": "GO:0035202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035202", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "tracheal outgrowth, open tracheal system", "id": "GO:0007426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007426", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "adult fat body development", "id": "GO:0007505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007505", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "imaginal disc eversion", "id": "GO:0007561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007561", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "cardioblast migration to the midline involved in heart rudiment formation", "id": "GO:0003319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003319", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8MPP3", "url": "https://www.uniprot.org/uniprotkb/Q8MPP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8MPP3-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ala218", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Probably enzymatically dead. Delayed fat body dissociation during metamorphosis in vivo, probably due to reduced cleavage efficiency of basement membranes. 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"https://www.uniprot.org/uniprotkb/Q8SX37" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8SX37", "url": "https://www.uniprot.org/uniprotkb/Q8SX37" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q8SX37", "url": "https://www.uniprot.org/uniprotkb/Q8SX37" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8SX37", "url": "https://www.uniprot.org/uniprotkb/Q8SX37" } ], "pmid": "" }, { "name": "CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity", "id": "GO:0003881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003881", "evidence": [ { "database": "UniProtKB", "id": 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"weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "In follicle epithelial cells, apical accumulation of the basal membrane protein vkg as apical extracellular aggregates. Crag levels decrease and Crag no longer accumulates at the plasma membrane, instead it has a diffuse cytoplasmic distribution. No direct effect on maintenance of apical-basal polarity in follicle cells.", "evidence": [ { "database": "UniProtKB", "id": "Q8SX37", "url": "https://www.uniprot.org/uniprotkb/Q8SX37" }, { "database": "PubMed", "id": "24828534", "url": "https://glygen.org/publication/PubMed/24828534" } ] } ] }, { "uniprot_canonical_ac": "Q8SX37-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Asp75", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "In follicle epithelial cells, decreases extracellular PtdInsP2 on apical and lateral sides of the plasma membrane resulting in the abnormal apical accumulation of basal membrane proteins such as vkg. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8SX68", "url": "https://www.uniprot.org/uniprotkb/Q8SX68" } ], "pmid": "" }, { "name": "FAR/SIN/STRIPAK complex", "id": "GO:0090443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090443", "evidence": [ { "database": "UniProtKB", "id": "Q8SX68", "url": "https://www.uniprot.org/uniprotkb/Q8SX68" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8SX68-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ser586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8SX68", "url": "https://www.uniprot.org/uniprotkb/Q8SX68" }, { "database": "PubMed", "id": "17372656", "url": "https://glygen.org/publication/PubMed/17372656" }, { "database": "iPTMnet", "id": "Q8SX68", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8SX68" } ] } ] } ], "record_id": "Q8SX68-1" }, { "uniprot_canonical_ac": "Q8SXL2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8SXL2", "url": "https://www.uniprot.org/uniprotkb/Q8SXL2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 136, "chemical_mass": 14410.0, "gene_names": "CCHa2;BcDNA:RE10132;CCH2a;CCH2;CCHa2;CCHamid2;CCM;CCha2;CG14375;Ccha2;Dm-CCHa2;Dmel\\CG14375;ccha2", "protein_name": "Neuropeptide CCHamide-2", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8SXL2", "url": "https://www.uniprot.org/uniprotkb/Q8SXL2" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { 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"UniProtKB", "id": "Q8SXU3", "url": "https://www.uniprot.org/uniprotkb/Q8SXU3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8SXU3", "url": "https://www.uniprot.org/uniprotkb/Q8SXU3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8SXU3", "url": "https://www.uniprot.org/uniprotkb/Q8SXU3" } ], "pmid": "" }, { "name": "GDP-mannose pyrophosphorylase complex", "id": "GO:0120508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120508", "evidence": [ { "database": "UniProtKB", "id": "Q8SXU3", "url": "https://www.uniprot.org/uniprotkb/Q8SXU3" } ], "pmid": "" } ], "biological_process": [ { "name": "GDP-mannose biosynthetic process", "id": "GO:0009298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009298", "evidence": [ { "database": "UniProtKB", "id": "Q8SXU3", "url": "https://www.uniprot.org/uniprotkb/Q8SXU3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8SXU3-1" }, { "uniprot_canonical_ac": "Q8SZA8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8SZA8", "url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 152, "chemical_mass": 16407.0, "gene_names": "Fdx2;BcDNA:RE08888;BcDNA:RH09920;CG1319;Dmel\\CG1319;Fdx2;Fdxh2", "protein_name": "Adrenodoxin-like protein 2, mitochondrial", "disease": [ { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "Q8SZA8", "url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "pmid": "" } ], "biological_process": [ { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q8SZA8", "url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "pmid": "" }, { "name": "electron transport chain", "id": "GO:0022900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022900", "evidence": [ { "database": "UniProtKB", "id": "Q8SZA8", "url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "pmid": "" }, { "name": "P450-containing electron transport chain", "id": "GO:0140647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140647", "evidence": [ { "database": "UniProtKB", "id": "Q8SZA8", "url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "pmid": "" }, { "name": "positive regulation of ecdysteroid biosynthetic process", "id": "GO:0045998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045998", "evidence": [ { "database": "UniProtKB", "id": "Q8SZA8", "url": "https://www.uniprot.org/uniprotkb/Q8SZA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8SZA8-1" }, { "uniprot_canonical_ac": "Q8T0G4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8T0G4", "url": "https://www.uniprot.org/uniprotkb/Q8T0G4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 629, "chemical_mass": 71697.0, "gene_names": "conu;BcDNA:LD04957;CG17082;CG40286;Conu;Dmel\\CG17082;conu", "protein_name": "Rho GTPase-activating protein conundrum", "disease": [ { "disease_id": "DOID:1205", "name": 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"name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "Q94524", "url": "https://www.uniprot.org/uniprotkb/Q94524" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "Q94524", "url": "https://www.uniprot.org/uniprotkb/Q94524" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q94524-1" }, { "uniprot_canonical_ac": "Q94546-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94546", "url": "https://www.uniprot.org/uniprotkb/Q94546" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 725, "chemical_mass": 77422.0, "gene_names": 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Severe decrease in binding to PtdIns(4,5)P2; when associated with 29-A--A-33, A-95, A-105 and 146-A--A-150.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Arg105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2); when associated with A-95, A-100 and 146-A--A-150. Severe decrease in binding to PtdIns(4,5)P2; when associated with 29-A--A-33, A-95, A-100 and 146-A--A-150.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Gly128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "In allele DB25; defect in synaptic transmission and homozygous lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "19737521", "url": "https://glygen.org/publication/PubMed/19737521" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Glu79", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Impaired Ca(2+) channel activity. Heterologous expression in salivary glands shows inhibition of calcium influx. Following strong stimulation that induces activity-dependent bulk endocytosis (ADBE), loses ability to promote the Ca(2+) channel-dependent formation of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) microdomains at periactive zones in the synaptic boutons of larval NMJs. However, no effect on activating Clathrin-mediated endocytosis (CME) in NMJ boutons in response to mild stimulation.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "19737521", "url": "https://glygen.org/publication/PubMed/19737521" }, { "database": "PubMed", "id": "28414717", "url": "https://glygen.org/publication/PubMed/28414717" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Glu95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2); when associated with A-100, A-105 and 146-A--A-150. Severe decrease in binding to PtdIns(4,5)P2; when associated with 29-A--A-33, A-100, A-105 and 146-A--A-150.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] } ], "record_id": "Q95T12-1" }, { "uniprot_canonical_ac": "Q95TJ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 566, "chemical_mass": 62791.0, "gene_names": "CycG;CG 11525;CG11525;CycG;Dmel\\CG11525;anon-EST:Liang-1.25;anon-EST:Liang-2.24;chr3R:27424276..27424475;clone 1.25;clone 2.24;cycG;dCycG;i205;i261", "protein_name": "Cyclin G", "disease": [ { "disease_id": "DOID:0050933", "name": "ovarian serous carcinoma", "description": "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.", "url": "https://disease-ontology.org/term/DOID:0050933", "evidence": [ { "id": "0050933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050933" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ 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"https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "meiotic DNA repair synthesis", "id": "GO:0000711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000711", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase regulator activity", "id": "GO:0016538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016538", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "cyclin-dependent protein kinase holoenzyme complex", "id": "GO:0000307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000307", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q95TJ9-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q95TJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q95TJ9" }, { "database": "PubMed", "id": "25995770", "url": "https://glygen.org/publication/PubMed/25995770" } ] } ] } ], "record_id": "Q95TJ9-1" }, { "uniprot_canonical_ac": "Q95TN4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95TN4", "url": "https://www.uniprot.org/uniprotkb/Q95TN4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 776, "chemical_mass": 87715.0, "gene_names": "Cog4;CG7456;Cog4;Dmel\\CG7456", "protein_name": "Conserved oligomeric Golgi complex subunit 4", "disease": [ { "disease_id": "DOID:0070262", "name": "congenital disorder of glycosylation type IIj", "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.", "url": "https://disease-ontology.org/term/DOID:0070262", "evidence": [ { "id": "0070262", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070262" } ], "weight": 0.0 }, { "disease_id": "DOID:0111673", "name": "Saul-Wilson syndrome", "description": "A bone development disease characterized by early 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hemolytic anemia 5", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0051006", "evidence": [ { "id": "0051006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051006" } ], "weight": 0.0 }, { "disease_id": "DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.", "url": "https://disease-ontology.org/term/DOID:0060639", "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ], "weight": 0.0 }, { "disease_id": "DOID:0061107", "name": "retinitis pigmentosa 92", "description": "A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0061107", "evidence": [ { "id": "0061107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061107" } ], "weight": 0.0 }, { "disease_id": "DOID:0061108", "name": "retinitis pigmentosa 79", "description": "A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0061108", "evidence": [ { "id": "0061108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061108" } ], "weight": 0.0 }, { "disease_id": "DOID:0070216", "name": "familial hyperinsulinemic hypoglycemia 3", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.", "url": "https://disease-ontology.org/term/DOID:0070216", "evidence": [ { "id": "0070216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070216" } ], "weight": 0.0 }, { "disease_id": "DOID:0110196", "name": "Charcot-Marie-Tooth disease type 4G", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0110196", "evidence": [ { "id": "0110196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110196" } ], "weight": 0.0 }, { "disease_id": "DOID:0111100", "name": "maturity-onset diabetes of the young type 2", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.", "url": "https://disease-ontology.org/term/DOID:0111100", "evidence": [ { "id": "0111100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111100" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:11717", "name": "neonatal diabetes mellitus", "description": "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.", "url": "https://disease-ontology.org/term/DOID:11717", "evidence": [ { "id": "11717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11717" } ], "weight": 0.0 }, { "disease_id": "DOID:13317", "name": "hyperinsulinemic hypoglycemia", "description": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.", "url": "https://disease-ontology.org/term/DOID:13317", "evidence": [ { "id": "13317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13317" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": 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"https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "glucokinase activity", "id": "GO:0004340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004340", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" }, { "name": "fructokinase activity", "id": "GO:0008865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008865", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" }, { "name": "mannokinase activity", "id": "GO:0019158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019158", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" }, { "name": "D-glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "Q9NFT7", "url": "https://www.uniprot.org/uniprotkb/Q9NFT7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9NFT7-1" }, { "uniprot_canonical_ac": "Q9NGC3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9NGC3", "url": "https://www.uniprot.org/uniprotkb/Q9NGC3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 995, "chemical_mass": 108044.0, "gene_names": "CenG1A;AGAP;BG:DS08220.1;CG16866;CG16867;CG31811;CG7982;CenG1A;CenG1a;Dmel\\CG31811;cenG1A;cenG1a;cenG;ceng1A", "protein_name": "Centaurin-gamma-1A", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", 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"" }, { "name": "myostimulatory hormone activity", "id": "GO:0016084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016084", "evidence": [ { "database": "UniProtKB", "id": "Q9NIP6", "url": "https://www.uniprot.org/uniprotkb/Q9NIP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9NIP6-1" }, { "uniprot_canonical_ac": "Q9NJH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9NJH0", "url": "https://www.uniprot.org/uniprotkb/Q9NJH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 431, "chemical_mass": 48968.0, "gene_names": "eEF1gamma;CG11901;Dmel\\CG11901;EF1 gamma;EF1gamma;Ef1Bggr;Ef1gamma;Ef1g;Ef1y;eEF1gamma", "protein_name": "Elongation factor 1-gamma", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", 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"" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9U405", "url": "https://www.uniprot.org/uniprotkb/Q9U405" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9U405", "url": "https://www.uniprot.org/uniprotkb/Q9U405" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q9U405", "url": "https://www.uniprot.org/uniprotkb/Q9U405" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9U405", "url": 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"eukaryotic translation initiation factor 3 complex", "id": "GO:0005852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005852", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "metal-dependent deubiquitinase activity", "id": "GO:0140492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140492", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001732", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9U9Q4-1" }, { "uniprot_canonical_ac": "Q9UAS6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 700, "chemical_mass": 80503.0, "gene_names": "cmtr2;CG5032;CMTr2;Dmel\\CG5032;EG:52C10.7;aft", "protein_name": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2", "disease": [], "molecular_function": [ { "name": "methyltransferase cap1 activity", "id": "GO:0004483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004483", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "methyltransferase cap2 activity", "id": "GO:0120550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120550", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of intracellular mRNA localization", "id": "GO:1904582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904582", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "7-methylguanosine mRNA capping", "id": "GO:0006370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006370", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9UAS6-1" }, { "uniprot_canonical_ac": "Q9V393-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 470, "chemical_mass": 51237.0, "gene_names": "krz;0952/14;14;CG1487;Dmel\\CG1487;Dmel_CG1487;Krz;Kurtz;beta-arr2;krz;l(3)S095214", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0061104", "name": "retinitis pigmentosa 96", "description": "A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061104", "evidence": [ { "id": "0061104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061104" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0110369", "name": "retinitis pigmentosa 47", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110369", "evidence": [ { "id": "0110369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110369" } ], "weight": 0.0 }, { "disease_id": "DOID:0110712", "name": "Oguchi disease-1", "description": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110712", "evidence": [ { "id": "0110712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110712" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8498", "name": "hereditary night blindness", "description": "", "url": "https://disease-ontology.org/term/DOID:8498", "evidence": [ { "id": "8498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8498" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "sensory perception", "id": "GO:0007600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007600", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of Toll signaling pathway", "id": "GO:0045751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045751", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "positive regulation of protein desumoylation", "id": "GO:0060189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060189", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of torso signaling pathway", "id": "GO:0120177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120177", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V393-1" }, { "uniprot_canonical_ac": "Q9V399-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 503, "chemical_mass": 57877.0, "gene_names": "Cyp303a1;303a1;BG:DS02740.6;CG4163;CYP303A1-Dm;CYP303A1;Cyp303A1;Cyp303a1;Dmel\\CG4163;Dmel_CG4163;I(2)35Fb;l(2)35Fb;nompH1;nompH", "protein_name": "Probable cytochrome P450 303a1", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050083", "name": "Keshan disease", "description": "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.", "url": "https://disease-ontology.org/term/DOID:0050083", "evidence": [ { "id": "0050083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050083" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:0050868", "evidence": [ { "id": "0050868", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080665", "name": "warfarin resistance", "description": "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.", "url": "https://disease-ontology.org/term/DOID:0080665", "evidence": [ { "id": "0080665", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080665" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr903", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A0A0B4JDC9-1" }, { "uniprot_canonical_ac": "A0A0B4K6Y7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K6Y7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K6Y7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2395, "chemical_mass": 263845.0, "gene_names": "pyd;CG11782;CG11962;CG12409;CG31349;CG43140;CG9729;CG9731;CG9763;CT36877;DZO-1;Dmel\\CG43140;Dmel_CG43140;Pch;Pyd/ZO-1;Pyd;Tamou;ZO-1;ZO1;dzo-1;pyd(Z01);pyd;tam;xvt", "protein_name": "", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": 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"description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": 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"https://www.alliancegenome.org/disease/DOID:4948" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K6Y7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K6Y7" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": 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The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V5L3-1" }, { "uniprot_canonical_ac": "Q9VAI0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAI0", "url": "https://www.uniprot.org/uniprotkb/Q9VAI0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24492.0, "gene_names": "Gnpnat;CG1969;Dmel\\CG1969;Dmel_CG1969;GNPNAT;Gnpnat", "protein_name": "Probable glucosamine 6-phosphate N-acetyltransferase", "disease": [ { "disease_id": "DOID:0080753", "name": "keratosis follicularis spinulosa decalvans", "description": "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma.", "url": "https://disease-ontology.org/term/DOID:0080753", "evidence": [ { "id": "0080753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080753" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VAI0", "url": "https://www.uniprot.org/uniprotkb/Q9VAI0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VAI0", "url": "https://www.uniprot.org/uniprotkb/Q9VAI0" } ], "pmid": "" } ], "biological_process": [ { "name": "UDP-N-acetylglucosamine biosynthetic process", "id": "GO:0006048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006048", "evidence": [ { "database": "UniProtKB", "id": "Q9VAI0", "url": "https://www.uniprot.org/uniprotkb/Q9VAI0" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucosamine 6-phosphate N-acetyltransferase activity", "id": "GO:0004343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004343", "evidence": [ { "database": "UniProtKB", "id": "Q9VAI0", "url": "https://www.uniprot.org/uniprotkb/Q9VAI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAI0-1" }, { "uniprot_canonical_ac": "Q9W2F2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1544, "chemical_mass": 172085.0, "gene_names": "mahj;BcDNA:SD08722;CG10080;Dmel\\CG10080;Dmel_CG10080;Mahj;VprBP;anon-WO0172774.151;mahj", "protein_name": "Protein mahjong", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" } ], "pmid": "" }, { "name": "Cul4-RING E3 ubiquitin ligase complex", "id": "GO:0080008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080008", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W2F2-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Ser565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9W2F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W2F2" } ] } ] }, { "uniprot_canonical_ac": "Q9W2F2-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Ser569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9W2F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W2F2" } ] } ] }, { "uniprot_canonical_ac": "Q9W2F2-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Ser955", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F2", "url": "https://www.uniprot.org/uniprotkb/Q9W2F2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9W2F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W2F2" } ] } ] } ], "record_id": "Q9W2F2-1" }, { "uniprot_canonical_ac": "Q9VHN3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHN3", "url": "https://www.uniprot.org/uniprotkb/Q9VHN3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 154, "chemical_mass": 17872.0, "gene_names": "Dmel\\CG11755;CG11755;Dmel\\CG11755;Dmel_CG11755", "protein_name": "Cysteine-rich DPF motif domain-containing protein 1", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHN3-1" }, { "uniprot_canonical_ac": "Q9VHH9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHH9", "url": "https://www.uniprot.org/uniprotkb/Q9VHH9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1345, "chemical_mass": 146178.0, "gene_names": "Kdm2;CG11033;Dmel\\CG11033;Dmel_CG11033;FBXL19;JHDM1;Jhd1;KDM2;Kdm2;dKDM2;dKdm2;dRAF1;dkdm2;kdm2", "protein_name": "JmjC domain-containing histone demethylation protein 1", "disease": [ { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": 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"sites": [], "record_id": "Q9VHG5-1" }, { "uniprot_canonical_ac": "Q9V8G0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V8G0", "url": "https://www.uniprot.org/uniprotkb/Q9V8G0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 39, "chemical_mass": 4100.0, "gene_names": "BomS3;BcDNA:RH58911;Bom3;BomS3;CG16844;CT37419;DIM 3;DIM3;Dmel\\CG16844;Dmel_CG16844;IM3;im3", "protein_name": "Bomanin Short 3", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9V8G0", "url": "https://www.uniprot.org/uniprotkb/Q9V8G0" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9V8G0", "url": "https://www.uniprot.org/uniprotkb/Q9V8G0" } ], "pmid": "" } ], "biological_process": [ { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "Q9V8G0", "url": "https://www.uniprot.org/uniprotkb/Q9V8G0" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9V8G0", "url": "https://www.uniprot.org/uniprotkb/Q9V8G0" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q9V8G0", "url": "https://www.uniprot.org/uniprotkb/Q9V8G0" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": 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}, { "uniprot_canonical_ac": "Q9VJD3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 751, "chemical_mass": 84954.0, "gene_names": "fws;CG6549;COG5;Cog5;Dmel\\CG6549;Dmel_CG6549;FWS;Fws;anon-EST:Posey162;anon-EST:Posey186;dCOG5;fws", "protein_name": "Conserved oligomeric Golgi complex subunit 5", "disease": [ { "disease_id": "DOID:0070261", "name": "congenital disorder of glycosylation type IIi", "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.", "url": "https://disease-ontology.org/term/DOID:0070261", "evidence": [ { "id": "0070261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070261" } ], "weight": 0.0 } ], 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"name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" }, { "name": "retrograde transport, vesicle recycling within Golgi", "id": "GO:0000301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000301", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" }, { "name": "actomyosin contractile 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UDP-galactose, Leloir pathway", "id": "GO:0033499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033499", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-galactose biosynthetic process", "id": "GO:0052574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052574", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-N-acetylgalactosamine biosynthetic process", "id": "GO:0019277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019277", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-alpha-D-glucose biosynthetic process", "id": "GO:0120530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120530", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" } ], "molecular_function": [ { "name": "UDP-glucose 4-epimerase activity", "id": "GO:0003978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003978", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-N-acetylglucosamine 4-epimerase activity", "id": "GO:0003974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003974", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0P5-1" }, { "uniprot_canonical_ac": "Q9VW60-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW60", "url": "https://www.uniprot.org/uniprotkb/Q9VW60" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1307, "chemical_mass": 142817.0, "gene_names": "Ac76E;AC 76E;AC76E;Ac76E;CG7978;DAC2;DAC76E;Dmel\\CG7978;Dmel_CG7978;ac76e;dADCY2", "protein_name": "Adenylate cyclase type 2", "disease": [ { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "Q9VW60", "url": "https://www.uniprot.org/uniprotkb/Q9VW60" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": 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located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:12190", "name": "descending colon cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:12190", "evidence": [ { "id": "12190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12190" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "histone reader activity", "id": "GO:0140566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140566", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "Sin3-type complex", "id": "GO:0070822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070822", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "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": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "pmid": "" }, { "name": "male germ-line stem cell population maintenance", "id": "GO:0036098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036098", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 238, "chemical_mass": 26437.0, "gene_names": "aph-1;APH1;Aph-1;Aph1;CG2855;Dm APH-1;Dmel\\CG2855;Dmel_CG2855;PSF;Pen-1;aph-1;aph1;aph;dAPH 1;dAPH1;dAph-1;l(2)23AB6;l(2)23Ag;pen-1", "protein_name": "Gamma-secretase subunit Aph-1", "disease": [ { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 } ], "biological_process": [ { "name": "Notch receptor processing, ligand-dependent", "id": "GO:0035333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035333", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "Notch receptor processing", "id": "GO:0007220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007220", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "membrane protein intracellular domain proteolysis", "id": "GO:0031293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031293", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "amyloid-beta formation", "id": "GO:0034205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034205", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "gamma-secretase complex", "id": "GO:0070765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070765", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQG2-1" }, { "uniprot_canonical_ac": "Q9VLJ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 630, "chemical_mass": 73057.0, "gene_names": "Acer;ACER;ACE;Acer;CG10593;Dmel\\CG10593;Dmel_CG10593;acer;l(2)k07704", "protein_name": "Angiotensin-converting enzyme-related protein", "disease": [ { "disease_id": "DOID:0050152", "name": "aspiration pneumonia", "description": "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.", "url": "https://disease-ontology.org/term/DOID:0050152", "evidence": [ { "id": "0050152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050152" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.", "url": "https://disease-ontology.org/term/DOID:0050851", "evidence": [ { "id": "0050851", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:14069", "name": "cerebral malaria", "description": "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.", "url": "https://disease-ontology.org/term/DOID:14069", "evidence": [ { "id": "14069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14069" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:790", "name": "ocular hypotension", "description": "", "url": "https://disease-ontology.org/term/DOID:790", "evidence": [ { "id": "790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:790" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.", "url": "https://disease-ontology.org/term/DOID:8970", "evidence": [ { "id": "8970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8970" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": 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"" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "siRNA processing", "id": "GO:0030422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030422", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "siRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0090625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090625", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": 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"https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "pole cell formation", "id": "GO:0007279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007279", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" }, { "name": "dosage compensation by hyperactivation of X chromosome", "id": "GO:0009047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009047", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": 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"id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VUQ5-1", "start_pos": "966", "end_pos": "966", "site_lbl": "Val966", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Impaired conversion of the pre-RISC complex, containing duplex siRNA, to the holo-RISC complex, containing single-stranded guide siRNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ5" }, { "database": "PubMed", "id": "32504809", "url": "https://glygen.org/publication/PubMed/32504809" } ] } ] } ], "record_id": "Q9VUQ5-1" }, { "uniprot_canonical_ac": "Q9VVW5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVW5", "url": "https://www.uniprot.org/uniprotkb/Q9VVW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", 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Shows elimination of distal stretches of longitunal veins L2-L5. Causes substitution of the wing by proximal hinge tissue. 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"https://www.uniprot.org/uniprotkb/Q9V3T9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V3T9", "url": "https://www.uniprot.org/uniprotkb/Q9V3T9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9V3T9", "url": "https://www.uniprot.org/uniprotkb/Q9V3T9" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9V3T9", "url": "https://www.uniprot.org/uniprotkb/Q9V3T9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ferredoxin-NADP+ reductase activity", "id": "GO:0004324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004324", "evidence": [ { "database": "UniProtKB", "id": 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"uniprot_canonical_ac": "Q9V3Y3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3Y3", "url": "https://www.uniprot.org/uniprotkb/Q9V3Y3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 159, "chemical_mass": 17249.0, "gene_names": "l(2)34Fc;A2;BG:DS01068.5;BcDNA:RE60882;CG7532;DS01068.5;Dmel\\CG7532;Dmel_CG7532;anon-EST:ParkEST060;br8;l(2)34Fc;l(2)br8;l34Fc", "protein_name": "Defense protein l(2)34Fc", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9V3Y3", "url": "https://www.uniprot.org/uniprotkb/Q9V3Y3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V3Y3", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q9V3Y3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V3Y3-1" }, { "uniprot_canonical_ac": "Q9V3Z6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3Z6", "url": "https://www.uniprot.org/uniprotkb/Q9V3Z6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2167, "chemical_mass": 250309.0, "gene_names": "ck;53D10S;BG:DS00929.11;CG7595;CK;D2;DM7a;DMyoVIIa;Dm 35B;DmVIIA;DmVIIa;Dmel\\CG7595;Dro35B;D;ESTS:53D10S;Mhc35BC;Myo7A;Myo7B;MyoVIIA;anon-35Bb;br27;ck/MyoVIIA;ck;l(1)35Ca;l(2)07130;l(2)35Ca;l(2)br27;l35Ca;myoVIIA;myoVIIa;myosin-7a;stch;stc", "protein_name": "Myosin-VIIa", "disease": [ { "disease_id": "DOID:0070655", "name": "Usher syndrome type 1B", "description": "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous 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"https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": 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"" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V4I1", "url": "https://www.uniprot.org/uniprotkb/Q9V4I1" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V4I1", "url": "https://www.uniprot.org/uniprotkb/Q9V4I1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V4I1", "url": "https://www.uniprot.org/uniprotkb/Q9V4I1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V4I1", "url": 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"sites": [], "record_id": "Q9V4N3-1" }, { "uniprot_canonical_ac": "Q9V4P1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1239, "chemical_mass": 136033.0, "gene_names": "scra;ABP8;Abp8;Anillin;Anil;Ani;CG2092;Dmel\\CG2092;Scra;anillin;anil;ani;l(2)03427;l(2)43Ec;l(2)k08255;scra", "protein_name": "Anillin", "disease": [ { "disease_id": "DOID:0111133", "name": "focal segmental glomerulosclerosis 8", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2.", "url": "https://disease-ontology.org/term/DOID:0111133", "evidence": [ { "id": "0111133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111133" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intercellular bridge organization", "id": "GO:0043063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043063", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "actomyosin contractile ring assembly", "id": "GO:0000915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000915", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007279", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "male germline ring canal formation", "id": "GO:0030726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030726", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "sensory organ precursor cell division", "id": "GO:0045035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045035", "evidence": [ { "database": "UniProtKB", "id": "Q9V4P1", "url": "https://www.uniprot.org/uniprotkb/Q9V4P1" } ], "pmid": "" }, { "name": "cytokinesis, division site positioning", "id": "GO:0007105", "url": 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"name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9V574", "url": "https://www.uniprot.org/uniprotkb/Q9V574" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V574-1" }, { "uniprot_canonical_ac": "Q9V595-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V595", "url": "https://www.uniprot.org/uniprotkb/Q9V595" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 356, "chemical_mass": 39988.0, "gene_names": "Urod;CG1818;Dmel\\CG1818;Updo;Urod", "protein_name": "Uroporphyrinogen decarboxylase", "disease": [ { "disease_id": "DOID:13268", "name": "porphyria", "description": "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and 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"" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAQ5-1" }, { "uniprot_canonical_ac": "Q9VAW5-3", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1673, "chemical_mass": 178145.0, "gene_names": "larp;0031/08;0225/29;BcDNA:LD02611;CG14065;CG14066;CG42551;Dmel\\CG42551;Larp;dlarp;l(3)S003108;l(3)S022529;larp1;larp", "protein_name": "La-related protein 1", "disease": [], "cellular_component": [ { "name": "extrinsic component of mitochondrial outer membrane", "id": 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"https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4769", "name": "pleuropulmonary blastoma", "description": "A pulmonary blastoma that derives_from the lung or pleural cavity.", "url": "https://disease-ontology.org/term/DOID:4769", "evidence": [ { "id": "4769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4769" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "RISC complex assembly", "id": "GO:0070922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070922", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "pre-miRNA processing", "id": "GO:0031054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031054", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "miRNA processing", "id": "GO:0035196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035196", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "siRNA processing", "id": "GO:0030422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030422", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "germarium-derived female germ-line cyst formation", "id": "GO:0030727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030727", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "mitotic cell cycle, embryonic", "id": "GO:0045448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045448", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "pole cell formation", "id": "GO:0007279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007279", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU9", "url": "https://www.uniprot.org/uniprotkb/Q9VCU9" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": 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synaptic plasticity", "id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { "name": "maintenance of presynaptic active zone structure", "id": "GO:0048790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048790", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { "name": 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disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein morphogenesis", "id": "GO:0008586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008586", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9VDW6", "url": "https://www.uniprot.org/uniprotkb/Q9VDW6" } ], "pmid": "" }, { 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"https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VE00", "url": "https://www.uniprot.org/uniprotkb/Q9VE00" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VE00", "url": "https://www.uniprot.org/uniprotkb/Q9VE00" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" } ], "cellular_component": [ { "name": "guanylate cyclase complex, soluble", "id": "GO:0008074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008074", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" } ], "biological_process": [ { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "Q9VEU5", "url": "https://www.uniprot.org/uniprotkb/Q9VEU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEU5-1" }, { "uniprot_canonical_ac": "Q9VF59-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF59", "url": "https://www.uniprot.org/uniprotkb/Q9VF59" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 241, "chemical_mass": 26866.0, "gene_names": "B9d1;B9D1;B9d1;CG14870;Dmel\\CG14870", "protein_name": "B9 domain-containing protein 1", "disease": [ { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": 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"database": "UniProtKB", "id": "Q9VF78", "url": "https://www.uniprot.org/uniprotkb/Q9VF78" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 710, "chemical_mass": 81136.0, "gene_names": "Cog2;CG6177;Cog2;Dmel\\CG6177;ldl-Cp;ldlCp", "protein_name": "Conserved oligomeric Golgi complex subunit 2", "disease": [ { "disease_id": "DOID:0070269", "name": "congenital disorder of glycosylation type IIq", "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.", "url": "https://disease-ontology.org/term/DOID:0070269", "evidence": [ { "id": "0070269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070269" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": 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[7227]" } ], "length": 1291, "chemical_mass": 149261.0, "gene_names": "Cyfip;CG4931;CYFIP1/2;CYFIP1;CYFIP;Cyfip;DSra-1;Dmel\\CG4931;PIR121/Sra-1;PIR121;Sra-1/CYFIP;Sra-1;Sra1/PIR121;Sra1;Sra;cyfip;dCYFIP1;dCYFIP;dCyfip;dSra;sra-1;sra1", "protein_name": "Cytoplasmic FMR1-interacting protein", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"Q9VF87", "url": "https://www.uniprot.org/uniprotkb/Q9VF87" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VF87-1" }, { "uniprot_canonical_ac": "Q9VFH6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFH6", "url": "https://www.uniprot.org/uniprotkb/Q9VFH6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 818, "chemical_mass": 92782.0, "gene_names": "CG7886;Dmel\\CG7886;anon-WO0140519.200", "protein_name": "Protein Cep78 homolog", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9VFH6", "url": "https://www.uniprot.org/uniprotkb/Q9VFH6" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9VFH6", "url": "https://www.uniprot.org/uniprotkb/Q9VFH6" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9VFH6", "url": "https://www.uniprot.org/uniprotkb/Q9VFH6" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q9VFH6", "url": "https://www.uniprot.org/uniprotkb/Q9VFH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFH6-1" }, { "uniprot_canonical_ac": "Q9VFJ0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VFJ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": 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activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VFJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VFJ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VFJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VFJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFJ0-1" }, { "uniprot_canonical_ac": "Q9VFP1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFP1", "url": "https://www.uniprot.org/uniprotkb/Q9VFP1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 508, "chemical_mass": 57384.0, "gene_names": "Cyp6d5;6d5;CG3050;CYP6D5;CYP6d5;Cyp6D5;Cyp6d5;Dmel\\CG3050;cyp6d5", "protein_name": "Probable cytochrome P450 6d5", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": 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"url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A 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"https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP1", "url": "https://www.uniprot.org/uniprotkb/Q9VFP1" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP1", "url": "https://www.uniprot.org/uniprotkb/Q9VFP1" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP1", "url": "https://www.uniprot.org/uniprotkb/Q9VFP1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP1", "url": "https://www.uniprot.org/uniprotkb/Q9VFP1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP1", "url": "https://www.uniprot.org/uniprotkb/Q9VFP1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFP1-1" }, { "uniprot_canonical_ac": "Q9VFR0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9VFR1", "url": "https://www.uniprot.org/uniprotkb/Q9VFR1" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "Q9VFR1", "url": "https://www.uniprot.org/uniprotkb/Q9VFR1" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9VFR1", "url": "https://www.uniprot.org/uniprotkb/Q9VFR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFR1-1" }, { "uniprot_canonical_ac": "Q9VG17-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG17", "url": "https://www.uniprot.org/uniprotkb/Q9VG17" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 510, "chemical_mass": 58790.0, "gene_names": "Cyp304a1;304a1;BcDNA:LP06355;CG7241;CYP304A1-Dm;CYP304A1;CYP304a1;Cyp304A1;Cyp304a1;Dmel\\CG7241", "protein_name": "Probable cytochrome P450 304a1", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. 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"name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": 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function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VG17", "url": "https://www.uniprot.org/uniprotkb/Q9VG17" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VG17", "url": "https://www.uniprot.org/uniprotkb/Q9VG17" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VG17", "url": "https://www.uniprot.org/uniprotkb/Q9VG17" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG17-1" }, { "uniprot_canonical_ac": "Q9VG38-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG38", "url": "https://www.uniprot.org/uniprotkb/Q9VG38" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 468, "chemical_mass": 52788.0, "gene_names": "Su(fu);CG6054;Dmel\\CG6054;Dmel_CG6054;SU(FU);SUFU;Su(Fu);Su(fu);SuFu;Sufu;d Sufu;dSufu;su(fu);sufu", "protein_name": "Suppressor of fused homolog", "disease": [ { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the 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} ], "pmid": "" }, { "name": "molecular sequestering activity", "id": "GO:0140313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140313", "evidence": [ { "database": "UniProtKB", "id": "Q9VG38", "url": "https://www.uniprot.org/uniprotkb/Q9VG38" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q9VG38", "url": "https://www.uniprot.org/uniprotkb/Q9VG38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG38-1" }, { "uniprot_canonical_ac": "Q9VG55-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG55", "url": "https://www.uniprot.org/uniprotkb/Q9VG55" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 191, "chemical_mass": 20623.0, "gene_names": "Hug;CG6371;Dmel\\CG6371;Drm-MT2;Drm-PK-2;HUGgamma;HUG;Hug-PK;Hug-gamma;Hugin PK;Hugin-PK-2;Hug;PK-2;hug gamma;hug-1;hug-2;hug-PK;hug-gamma;huggamma;hugg;huginPK;hugin;hug;pyrokinin/PBAN-like", "protein_name": "Protein hugin", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VG55", "url": "https://www.uniprot.org/uniprotkb/Q9VG55" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VG55", "url": "https://www.uniprot.org/uniprotkb/Q9VG55" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q9VG55", "url": 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"https://www.uniprot.org/uniprotkb/Q9VG55" } ], "pmid": "" }, { "name": "myostimulatory hormone activity", "id": "GO:0016084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016084", "evidence": [ { "database": "UniProtKB", "id": "Q9VG55", "url": "https://www.uniprot.org/uniprotkb/Q9VG55" } ], "pmid": "" }, { "name": "neuropeptide activity", "id": "GO:0160041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160041", "evidence": [ { "database": "UniProtKB", "id": "Q9VG55", "url": "https://www.uniprot.org/uniprotkb/Q9VG55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG55-1" }, { "uniprot_canonical_ac": "Q9VG73-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG73", "url": "https://www.uniprot.org/uniprotkb/Q9VG73" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 396, "chemical_mass": 43657.0, 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"https://www.uniprot.org/uniprotkb/Q9VGZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGZ2-1" }, { "uniprot_canonical_ac": "Q9VGZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 698, "chemical_mass": 75106.0, "gene_names": "cwo;AAF24476.1;CG17100;CWO;Cwo;Dmel\\CG17100;GM05287;bHLHe49;cwo;dcwo;mel_cwo", "protein_name": "Transcription factor cwo", "disease": [], "biological_process": [ { "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": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "DNA-templated 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"id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGZ5-1" }, { "uniprot_canonical_ac": "Q9VH36-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH36", "url": "https://www.uniprot.org/uniprotkb/Q9VH36" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 585, "chemical_mass": 66453.0, "gene_names": "ohgt;CG3925;Crbn;Dmel\\CG3925;crbn;ohgt", "protein_name": "Protein cereblon", "disease": [ { "disease_id": "DOID:0060308", "name": "autosomal recessive intellectual developmental disorder", "description": "A intellectual disability characterized by an autosomal recessive inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060308", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ], "weight": 0.0 }, { "disease_id": "DOID:0081178", "name": "autosomal recessive intellectual developmental disorder 2", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 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"GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VH36", "url": "https://www.uniprot.org/uniprotkb/Q9VH36" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9VH36", "url": "https://www.uniprot.org/uniprotkb/Q9VH36" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VH36", "url": "https://www.uniprot.org/uniprotkb/Q9VH36" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9VH36", "url": "https://www.uniprot.org/uniprotkb/Q9VH36" } ], "pmid": "" }, { "name": "positive regulation of neuromuscular synaptic transmission", "id": "GO:1900075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900075", "evidence": [ { "database": "UniProtKB", "id": "Q9VH36", "url": "https://www.uniprot.org/uniprotkb/Q9VH36" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH36-1" }, { "uniprot_canonical_ac": "Q9VH45-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH45", "url": "https://www.uniprot.org/uniprotkb/Q9VH45" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 19063.0, "gene_names": "Dmel\\CG5359;BcDNA:RE37471;CG5359;Dmel\\CG5359;Dmel_CG5359", "protein_name": "", "disease": [ { "disease_id": "DOID:0050592", "name": "asphyxiating thoracic dystrophy", "description": "A bone development disease characterized by skeletal abnormalities and 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKA5-1" }, { "uniprot_canonical_ac": "Q9VKH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKH0", "url": "https://www.uniprot.org/uniprotkb/Q9VKH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 570, "chemical_mass": 64910.0, "gene_names": "Cog8;CG6488;COG8;Cog8;Dmel\\CG6488", "protein_name": "Conserved oligomeric Golgi complex subunit 8", "disease": [ { "disease_id": "DOID:0070260", "name": "congenital disorder of glycosylation type IIh", "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.", "url": "https://disease-ontology.org/term/DOID:0070260", "evidence": [ { "id": "0070260", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070260" } 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}, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "positive regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "protein polyglycylation", "id": "GO:0018094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018094", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV8", "url": "https://www.uniprot.org/uniprotkb/Q9VKV8" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", 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"url": "https://www.uniprot.org/uniprotkb/Q9VL18" }, { "database": "PubMed", "id": "17372656", "url": "https://glygen.org/publication/PubMed/17372656" }, { "database": "iPTMnet", "id": "Q9VL18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VL18" } ] } ] } ], "record_id": "Q9VL18-1" }, { "uniprot_canonical_ac": "Q9VL78-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL78", "url": "https://www.uniprot.org/uniprotkb/Q9VL78" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 439, "chemical_mass": 48795.0, "gene_names": "Fkbp59;CG4535;Dmel\\CG4535;Dmel_CG4535;FKBP59-bp1;FKBP59;Fkbp59;anon-WO0118547.161;dFKBP4;dFKBP59;fkbp59;l(2)k00424;l(2)k09010", "protein_name": "FK506-binding protein 59", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:4674", "name": "androgen insensitivity syndrome", "description": "A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.", "url": "https://disease-ontology.org/term/DOID:4674", "evidence": [ { "id": "4674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4674" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLL0-1" }, { "uniprot_canonical_ac": "Q9VLM5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLM5", "url": "https://www.uniprot.org/uniprotkb/Q9VLM5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 112, "chemical_mass": 12526.0, "gene_names": "Dad1;BcDNA:RE23864;CG13393;Dad1;Dmel\\CG13393;OST;dDad1;l(2)k12914", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM5", "url": "https://www.uniprot.org/uniprotkb/Q9VLM5" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": 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axonal protein transport", "id": "GO:0099641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099641", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "transcytosis", "id": "GO:0045056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045056", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "protein localization to adherens junction", "id": "GO:0071896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071896", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "vesicle docking involved in exocytosis", "id": "GO:0006904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006904", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "vesicle tethering involved in exocytosis", "id": "GO:0090522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090522", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "positive regulation of Golgi vesicle fusion to target membrane", "id": "GO:0048215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048215", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "annulate lamellae", "id": "GO:0005642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005642", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "subapical complex", "id": "GO:0035003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035003", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "exocyst", "id": "GO:0000145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000145", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQQ9-1" }, { "uniprot_canonical_ac": "Q9VR09-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 106, "chemical_mass": 11841.0, "gene_names": "HP6;CG15636;Dmel\\CG15636;Dmel_CG15636;HP6;UMBREA;UMB;Umbrea;umbrea", "protein_name": "", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "chromocenter", "id": "GO:0010369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010369", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" } ], "biological_process": [ { "name": "telomere capping", "id": "GO:0016233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016233", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q9VR09", "url": "https://www.uniprot.org/uniprotkb/Q9VR09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR09-1" }, { "uniprot_canonical_ac": "Q9VR17-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 363, "chemical_mass": 41583.0, "gene_names": "Elba1;Bsg25A;CG12205;Dmel\\CG12205;Elba1;Elba;anon-EST:Liang-1.70;bsg25A;clone 1.70;elba1", "protein_name": "Early boundary activity protein 1", "disease": [], "molecular_function": [ { "name": "chromatin insulator sequence binding", "id": "GO:0043035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043035", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "chromatin silencing complex", "id": "GO:0005677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005677", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "embryonic development via the syncytial blastoderm", "id": "GO:0001700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001700", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" }, { "name": "heterochromatin boundary formation", "id": "GO:0033696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033696", "evidence": [ { "database": "UniProtKB", "id": "Q9VR17", "url": "https://www.uniprot.org/uniprotkb/Q9VR17" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR17-1" }, { "uniprot_canonical_ac": "Q9VR82-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 481, "chemical_mass": 55661.0, "gene_names": "Inx6;CG17063;Dm-inx6;Dmel\\CG17063;FBpp0077031;Inx6;inx-6;inx6;prp6", "protein_name": "Innexin inx6", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "pmid": "" }, { "name": "gap junction", "id": "GO:0005921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "pmid": "" }, { "name": "intercellular transport", "id": "GO:0010496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010496", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": "https://www.uniprot.org/uniprotkb/Q9VR82" } ], "pmid": "" }, { "name": "medium-term memory", "id": "GO:0072375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072375", "evidence": [ { "database": "UniProtKB", "id": "Q9VR82", "url": 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"uniprot_canonical_ac": "Q9VR91-1", "start_pos": "2546", "end_pos": "2546", "site_lbl": "Thr2546", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2546, "start_aa": "Thr", "end_pos": 2546, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2546", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VR91-1", "start_pos": "1776", "end_pos": "1776", "site_lbl": "Thr1776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VR91", "url": "https://www.uniprot.org/uniprotkb/Q9VR91" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VR91", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VR91" } ] } ] } ], "record_id": "Q9VR91-1" }, { "uniprot_canonical_ac": "Q9VRB3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprotkb/Q9VRB3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 520, "chemical_mass": 60763.0, "gene_names": "Cyp6v1;6v1;CG1829;Cyp6v1;Dmel\\CG1829;Dmel_CG1829", "protein_name": "Probable cytochrome P450 6v1", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprotkb/Q9VRB3" } ], "pmid": "" } ], "biological_process": [ { "name": "response to DDT", "id": "GO:0046680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046680", "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprotkb/Q9VRB3" } ], "pmid": "" }, { "name": "insecticide catabolic process", "id": "GO:0046701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046701", "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprotkb/Q9VRB3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRB3-1" }, { "uniprot_canonical_ac": "Q9VRG7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 243, "chemical_mass": 28486.0, "gene_names": "Ctdnep1;Dd;20151539;BcDNA:LD08201;CG1696;Ctdnep1;DD;Dd;Dmel\\CG1696;Dmel_CG1696;anon-WO03040301.167;ddd;l(1)G0269", "protein_name": "CTD nuclear envelope phosphatase 1 homolog", "disease": [], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": 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"https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "TIM23 mitochondrial import inner membrane translocase complex", "id": "GO:0005744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005744", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "phosphatase activator activity", "id": "GO:0019211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019211", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071763", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG7", "url": "https://www.uniprot.org/uniprotkb/Q9VRG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRG7-1" }, { "uniprot_canonical_ac": "Q9VRJ0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 726, "chemical_mass": 82534.0, "gene_names": "Gen;BcDNA:GM10765;CG10670;DmGEN;DmGen;Dmel\\CG10670;GEN;Gen;mus324", "protein_name": "Flap endonuclease GEN", "disease": [], "molecular_function": [ { "name": "single-stranded DNA 3'-5' DNA exonuclease activity", "id": "GO:0008310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008310", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" }, { "name": "DNA endonuclease activity", "id": "GO:0004520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004520", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" }, { "name": "double-stranded DNA 3'-5' DNA exonuclease activity", "id": "GO:0008311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008311", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": 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"https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VRJ0-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Tyr439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ0" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VRJ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VRJ0" } ] } ] } ], "record_id": "Q9VRJ0-1" }, { "uniprot_canonical_ac": "Q9VRJ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 108, "chemical_mass": 12082.0, "gene_names": "CG10674;Dmel\\CG10674", "protein_name": "Protein Asterix", "disease": [], "biological_process": [ { "name": "protein insertion into ER membrane", "id": "GO:0045048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045048", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRJ8-1" }, { "uniprot_canonical_ac": "Q9VRM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 543, "chemical_mass": 62448.0, "gene_names": "spo;307a1;CG10594;CYP307A1-Dm;CYP307A1;Cyp307a1;Dmel\\CG10594;Dmspo;Spo;spo", "protein_name": "Cytochrome P450 307a1", "disease": [ { "disease_id": "DOID:0050083", "name": "Keshan disease", "description": "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.", "url": "https://disease-ontology.org/term/DOID:0050083", "evidence": [ { "id": "0050083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050083" } ], "weight": 0.0 }, { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.", "url": "https://disease-ontology.org/term/DOID:0060673", "evidence": [ { "id": "0060673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ], "weight": 0.0 }, { "disease_id": "DOID:0080611", "name": "anterior segment dysgenesis 6", "description": "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.", "url": "https://disease-ontology.org/term/DOID:0080611", "evidence": [ { "id": "0080611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080611" } ], "weight": 0.0 }, { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:11212", "name": "hydrophthalmos", "description": "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11212", "evidence": [ { "id": "11212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11212" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:11836", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.", "url": "https://disease-ontology.org/term/DOID:11836", "evidence": [ { "id": "11836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11836" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cuticle development", "id": "GO:0042335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042335", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": 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], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VRM7-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM7", "url": "https://www.uniprot.org/uniprotkb/Q9VRM7" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VRM7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VRM7" } ] } ] } ], "record_id": "Q9VRM7-1" }, { "uniprot_canonical_ac": "Q9VRP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1044, "chemical_mass": 119060.0, "gene_names": "Bre1;BRE1;Bre-1;Bre1;CG10542;Dmel\\CG10542;Dmel_CG10542;EC3-8;bre-1;bre1;dBRE1;dBre1;l(3)01640", "protein_name": "E3 ubiquitin-protein ligase Bre1", "disease": [ { "disease_id": "DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by 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signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "negative regulation of heterochromatin formation", "id": "GO:0031452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031452", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": "https://www.uniprot.org/uniprotkb/Q9VRP9" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VRP9", "url": 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 419, "chemical_mass": 45871.0, "gene_names": "Mcad;ACAD;CG 12262;CG12262;Dmel\\CG12262;MCAD;Mcad;mcad", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080153", "name": "medium chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.", "url": "https://disease-ontology.org/term/DOID:0080153", "evidence": [ { "id": "0080153", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080153" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic 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Does not rescue climbing and flight defects in Pink1 mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSA3", "url": "https://www.uniprot.org/uniprotkb/Q9VSA3" }, { "database": "PubMed", "id": "29563254", "url": "https://glygen.org/publication/PubMed/29563254" } ] }, { "sequence_org": "S", "sequence_mut": "DD", "comment": "Phosphomimetic mutant that fully rescues climbing defects and significantly improves flight defects, and thorax and wing posture phenotypes in Pink1 mutants. No effect on acyl-CoA dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSA3", "url": "https://www.uniprot.org/uniprotkb/Q9VSA3" }, { "database": "PubMed", "id": "29563254", "url": "https://glygen.org/publication/PubMed/29563254" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phosphomimetic mutant that fully rescues climbing defects and significantly improves flight defects, and thorax and wing posture phenotypes in Pink1 mutants. No effect on acyl-CoA dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSA3", "url": "https://www.uniprot.org/uniprotkb/Q9VSA3" }, { "database": "PubMed", "id": "29563254", "url": "https://glygen.org/publication/PubMed/29563254" } ] } ] } ], "record_id": "Q9VSA3-1" }, { "uniprot_canonical_ac": "Q9VSD7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSD7", "url": "https://www.uniprot.org/uniprotkb/Q9VSD7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 534, "chemical_mass": 59462.0, "gene_names": "ldbr;CG7942;DBR1;Dmel\\CG7942;Lbdr;Ldbr;ldbr", "protein_name": "Lariat debranching enzyme", "disease": [ { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": 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"Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 693, "chemical_mass": 80026.0, "gene_names": "Exo70;CG7127;Dmel\\CG7127;Exo70p;Exo70;exo70", "protein_name": "Exocyst complex component 7", "disease": [ { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 } ], "biological_process": [ { "name": "synaptic vesicle targeting", "id": "GO:0016080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016080", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "vesicle docking involved in exocytosis", "id": "GO:0006904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006904", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "vesicle tethering involved in exocytosis", "id": "GO:0090522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090522", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" }, { "name": "exocyst", "id": "GO:0000145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000145", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VSJ8-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ8" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VSJ8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VSJ8" } ] } ] } ], "record_id": "Q9VSJ8-1" }, { "uniprot_canonical_ac": "Q9VSS1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 611, "chemical_mass": 69298.0, "gene_names": "pix;ABCE1;BEST:GH18088;CG5651;DmCG5651;Dmel\\CG5651;E3-c;Pix;pix", "protein_name": "Protein Pixie", "disease": [ { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, non-stop decay", "id": "GO:0070481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070481", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "translational termination", "id": "GO:0006415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006415", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VSS1-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Pro146", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Does not affect development. Viable but with reduced body and bristle size; when associated with L-38 or T-77.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" }, { "database": "PubMed", "id": "16291791", "url": "https://glygen.org/publication/PubMed/16291791" } ] } ] }, { "uniprot_canonical_ac": "Q9VSS1-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Gln231", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Embryonic lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" }, { "database": "PubMed", "id": "16291791", "url": "https://glygen.org/publication/PubMed/16291791" } ] } ] }, { "uniprot_canonical_ac": "Q9VSS1-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Pro38", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Larval lethal. Viable but with reduced body and bristle size; when associated with L-146.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" }, { "database": "PubMed", "id": "16291791", "url": "https://glygen.org/publication/PubMed/16291791" } ] } ] }, { "uniprot_canonical_ac": "Q9VSS1-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Glu503", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Constitutively associates with the 40S ribosomal subunit.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" }, { "database": "PubMed", "id": "17392269", "url": "https://glygen.org/publication/PubMed/17392269" } ] } ] }, { "uniprot_canonical_ac": "Q9VSS1-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ala77", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Embryonic lethal. Viable but with reduced body and bristle size; when associated with L-146.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSS1", "url": "https://www.uniprot.org/uniprotkb/Q9VSS1" }, { "database": "PubMed", "id": "16291791", "url": "https://glygen.org/publication/PubMed/16291791" } ] } ] } ], "record_id": "Q9VSS1-1" }, { "uniprot_canonical_ac": "Q9VSS7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSS7", "url": "https://www.uniprot.org/uniprotkb/Q9VSS7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 250, "chemical_mass": 28564.0, "gene_names": "CG5280;Dmel\\CG5280", "protein_name": "UPF0193 protein EVG1 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSS7-1" }, { "uniprot_canonical_ac": "Q9VT57-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 454, "chemical_mass": 53682.0, "gene_names": "Cdk8;CDK8;CG10572;Cdk8;DmCdk8;Dmel\\CG10572;cdk8;dCdk8;dTRAP56;p58", "protein_name": "Cyclin-dependent kinase 8", "disease": [ { "disease_id": "DOID:0112221", "name": "developmental and epileptic encephalopathy 87", "description": "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0112221", "evidence": [ { "id": "0112221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112221" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0004693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004693", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "RNA polymerase II CTD heptapeptide repeat kinase activity", "id": "GO:0008353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008353", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "CKM complex", "id": "GO:1990508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990508", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "sex comb development", "id": "GO:0045498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045498", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" }, { "name": "imaginal disc-derived leg segmentation", "id": "GO:0036011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036011", "evidence": [ { "database": "UniProtKB", "id": "Q9VT57", "url": "https://www.uniprot.org/uniprotkb/Q9VT57" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT57-1" }, { "uniprot_canonical_ac": "Q9VTC4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 156, "chemical_mass": 17587.0, "gene_names": "galla-2;CG7949;CIAO2B;Dmel\\CG7949;Galla-2;Galla2;galla-2;galla2", "protein_name": "MIP18 family protein galla-2", "disease": [], "cellular_component": [ { "name": "cytosolic [4Fe-4S] assembly targeting complex", "id": "GO:0097361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097361", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "pmid": "" } ], "biological_process": [ { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "pmid": "" }, { "name": "[4Fe-4S] cluster assembly", "id": "GO:0044572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044572", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC4", "url": "https://www.uniprot.org/uniprotkb/Q9VTC4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTC4-1" }, { "uniprot_canonical_ac": "Q9VTE0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 159, "chemical_mass": 17564.0, "gene_names": "Blos2;BLOS2;Blos2;CG14145;DmBlos2;Dmel\\CG14145;NP_648427;blos2", "protein_name": "Biogenesis of lysosome-related organelles complex 1 subunit 2", "disease": [ { "disease_id": "DOID:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.", "url": "https://disease-ontology.org/term/DOID:3753", "evidence": [ { "id": "3753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ], "weight": 0.0 } ], "biological_process": [ { "name": "eye pigment granule organization", "id": "GO:0008057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008057", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "organelle transport along microtubule", "id": "GO:0072384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "BORC complex", "id": "GO:0099078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099078", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": "BLOC-1 complex", "id": "GO:0031083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031083", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE0", "url": "https://www.uniprot.org/uniprotkb/Q9VTE0" } ], "pmid": "" }, { "name": 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"Cyp12c1;12c1;CG4120;Cyp12C1;Cyp12c1;Cyp12c;Dmel\\CG4120;Dmel_CG4120;cyp12c1", "protein_name": "Probable cytochrome P450 12c1, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR9", "url": "https://www.uniprot.org/uniprotkb/Q9VVR9" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR9", "url": "https://www.uniprot.org/uniprotkb/Q9VVR9" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR9", "url": "https://www.uniprot.org/uniprotkb/Q9VVR9" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR9", "url": "https://www.uniprot.org/uniprotkb/Q9VVR9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR9", "url": "https://www.uniprot.org/uniprotkb/Q9VVR9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR9", "url": "https://www.uniprot.org/uniprotkb/Q9VVR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVR9-1" }, { "uniprot_canonical_ac": "Q9VW15-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW15", "url": "https://www.uniprot.org/uniprotkb/Q9VW15" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2226, "chemical_mass": 246266.0, "gene_names": "ash1;ASH-1;ASH1;Ash 1;Ash1;Ash;CG8887;Dmel\\CG8887;KMT2H;ash-1;ash1;ash;dash;l(3)76BDb;l(3)SG29a", "protein_name": "Histone-lysine N-methyltransferase ash1", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080231", "name": "autosomal dominant intellectual developmental disorder 52", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0080231", "evidence": [ { "id": "0080231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080231" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", 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lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": 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involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VW43", "url": "https://www.uniprot.org/uniprotkb/Q9VW43" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VW43", "url": "https://www.uniprot.org/uniprotkb/Q9VW43" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VW43", "url": "https://www.uniprot.org/uniprotkb/Q9VW43" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VW43", "url": "https://www.uniprot.org/uniprotkb/Q9VW43" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VW43", "url": "https://www.uniprot.org/uniprotkb/Q9VW43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VW43-1" }, { "uniprot_canonical_ac": "Q9VW71-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 4699, "chemical_mass": 523781.0, "gene_names": "kug;CG7749;CT23445;Cad76E;DCad76E;Dmel\\CG7749;Dmel_CG7749;Fat-like;Fat2;Ftl;Kug;RE-A;fat2;fat;ft2;ftl;kug", "protein_name": "Fat-like cadherin-related tumor suppressor homolog", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0080287", "name": "spinocerebellar ataxia 45", "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33.", "url": "https://disease-ontology.org/term/DOID:0080287", "evidence": [ { "id": "0080287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080287" } ], "weight": 0.0 }, { "disease_id": "DOID:11727", "name": "facioscapulohumeral muscular dystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11727", "evidence": [ { "id": "11727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11727" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "establishment of planar polarity of follicular epithelium", "id": "GO:0042247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042247", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "establishment or maintenance of actin cytoskeleton polarity", "id": "GO:0030950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030950", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q9VW71", "url": "https://www.uniprot.org/uniprotkb/Q9VW71" } ], "pmid": "" }, { "name": "protein localization to cell leading edge", "id": "GO:1902463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902463", "evidence": [ { "database": "UniProtKB", 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"molecular_function": [ { "name": "tumor necrosis factor receptor activity", "id": "GO:0005031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005031", "evidence": [ { "database": "UniProtKB", "id": "Q9VWS4", "url": "https://www.uniprot.org/uniprotkb/Q9VWS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VWS4-1" }, { "uniprot_canonical_ac": "Q9VWW0-3", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWW0", "url": "https://www.uniprot.org/uniprotkb/Q9VWW0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 331, "chemical_mass": 34931.0, "gene_names": "CrebB;CG6103;CRE-BP;CREB-B;CREB-b;CREB2-b;CREB2a;CREB2b;CREB2;CREB;Creb B 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"Q9VXA8", "url": "https://www.uniprot.org/uniprotkb/Q9VXA8" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q9VXA8", "url": "https://www.uniprot.org/uniprotkb/Q9VXA8" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process", "id": "GO:0000956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000956", "evidence": [ { "database": "UniProtKB", "id": "Q9VXA8", "url": "https://www.uniprot.org/uniprotkb/Q9VXA8" } ], "pmid": "" }, { "name": "NAD-cap decapping", "id": "GO:0110155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110155", "evidence": [ { "database": "UniProtKB", "id": "Q9VXA8", "url": "https://www.uniprot.org/uniprotkb/Q9VXA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXA8-1" }, { "uniprot_canonical_ac": "Q9VXG4-1", "species": [ { "name": "Drosophila 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}, { "name": "cytoophidium", "id": "GO:0097268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097268", "evidence": [ { "database": "UniProtKB", "id": "Q9VZI2", "url": "https://www.uniprot.org/uniprotkb/Q9VZI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VZI2-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Thr502", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 502, "start_aa": "Thr", "end_pos": 502, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr502", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VZI2", "database": "O-GlcNAc Database", "url": 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"https://www.uniprot.org/uniprotkb/Q9W092" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9W092", "url": "https://www.uniprot.org/uniprotkb/Q9W092" } ], "pmid": "" }, { "name": "chitin-based embryonic cuticle biosynthetic process", "id": "GO:0008362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008362", "evidence": [ { "database": "UniProtKB", "id": "Q9W092", "url": "https://www.uniprot.org/uniprotkb/Q9W092" } ], "pmid": "" }, { "name": "larval chitin-based cuticle development", "id": "GO:0008363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008363", "evidence": [ { "database": "UniProtKB", "id": "Q9W092", "url": "https://www.uniprot.org/uniprotkb/Q9W092" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9W092", 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"id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W0Z5-1" }, { "uniprot_canonical_ac": "Q9W130-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W130", "url": "https://www.uniprot.org/uniprotkb/Q9W130" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 522, "chemical_mass": 60538.0, "gene_names": "Cyp9c1;9c1;CG3616;CYP9C1;Cyp9C1;Cyp9c1;Dmel\\CG3616;P-450;P450", "protein_name": "Cytochrome P450 9c1", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic 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"https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. 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"uniprot_canonical_ac": "A0A0B4K7B4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7B4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7B4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 172, "chemical_mass": 19648.0, "gene_names": "Dmel\\CG43318;CG14876;CG43318;Dmel\\CG43318;Dmel_CG43318", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K7B4-1" }, { "uniprot_canonical_ac": "A0A0B4K7C5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7C5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7C5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 220, "chemical_mass": 24435.0, "gene_names": "Fkbp14;BcDNA.GM07659;BcDNA:GH08925;BcDNA:GM07659;CG9847;Dmel\\CG9847;Dmel_CG9847;FKB13;FKBP13;FKBP14;Fkbp13;Fkbp14;GM07659;fkbp13;l(2)00734", "protein_name": "peptidylprolyl isomerase", "disease": [ { "disease_id": "DOID:0080735", "name": "Ehlers-Danlos syndrome kyphoscoliotic type 2", "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.", "url": "https://disease-ontology.org/term/DOID:0080735", "evidence": [ { "id": "0080735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080735" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { 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"Dmel\\CG43094;CG43094;Dmel\\CG43094;Dmel_CG43094", "protein_name": "Seminal fluid protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K7C7-1" }, { "uniprot_canonical_ac": "A0A0B4K7E8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7E8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7E8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 73, "chemical_mass": 8245.0, "gene_names": "Dmel\\CG43207;CG43207;DMG8-chr2R.33.031;Dmel\\CG43207;Dmel_CG43207;lincRNA.382", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K7E8-1" }, { "uniprot_canonical_ac": "A0A0B4K7I9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7I9", "url": 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"database": "UniProtKB", "id": "A0A0B4K838", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K838" } ], "pmid": "" } ], "cellular_component": [ { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K838", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K838" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K838-1" }, { "uniprot_canonical_ac": "A0A0B4K8B1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K8B1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K8B1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 342, "chemical_mass": 38190.0, "gene_names": "Dmel\\CG13562;CG13562;Dmel\\CG13562;Dmel_CG13562", "protein_name": "Lipase domain-containing protein", "disease": 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"uniprot_canonical_ac": "A0A0B4KEH1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KEH1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KEH1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 710, "chemical_mass": 79999.0, "gene_names": "FBXL9;CG8272;CT8327;Dmel\\CG8272;Dmel_CG8272;FBXL9", "protein_name": "F-box domain-containing protein", "disease": [], "cellular_component": [ { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KEH1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KEH1" } ], "pmid": "" } ], "biological_process": [ { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { 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[], "record_id": "A0A0B4KFQ5-1" }, { "uniprot_canonical_ac": "A0A0B4KFY0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFY0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFY0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 696, "chemical_mass": 75598.0, "gene_names": "dnr1;CG12489;DNR1;Dmel\\CG12489;Dmel_CG12489;Dnr-1;Dnr1;Mylip;dNR1;dnr1", "protein_name": "RING-type E3 ubiquitin transferase", "disease": [ { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "cellular_component": [ { "name": 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appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0111707", "evidence": [ { "id": "0111707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111707" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "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 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"https://www.uniprot.org/uniprotkb/A1Z6Z8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6Z8-1" }, { "uniprot_canonical_ac": "A8DYB7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 816, "chemical_mass": 90485.0, "gene_names": "Dyb;CG8529;DmDYB;Dmel\\CG8529;Dmel_CG8529;Dyb", "protein_name": "", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0060480", "name": "left ventricular noncompaction", "description": "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.", "url": "https://disease-ontology.org/term/DOID:0060480", "evidence": [ { "id": "0060480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060480" } ], "weight": 0.0 }, { "disease_id": "DOID:0061184", "name": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2", "description": "A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12.", "url": "https://disease-ontology.org/term/DOID:0061184", "evidence": [ { "id": "0061184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061184" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dystrophin-associated glycoprotein complex", "id": "GO:0016010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016010", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "maintenance of presynaptic active zone structure", "id": "GO:0048790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048790", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" }, { "name": "synaptic signaling", "id": "GO:0099536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099536", "evidence": [ { "database": "UniProtKB", "id": "A8DYB7", "url": "https://www.uniprot.org/uniprotkb/A8DYB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8DYB7-1" }, { "uniprot_canonical_ac": "B7YZT5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1364, "chemical_mass": 155371.0, "gene_names": "Pld;CG12110;Dmel\\CG12110;Dmel_CG12110;MitoPLD;PC-Pld;PLD;Pld;dPLD;dPld;phospholipase D;pld1;pld", "protein_name": "Phospholipase", "disease": [ { "disease_id": "DOID:0080633", "name": "developmental cardiac valvular defect", "description": "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.", "url": "https://disease-ontology.org/term/DOID:0080633", "evidence": [ { "id": "0080633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080633" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phospholipase D activity", "id": "GO:0004630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004630", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" } ], "biological_process": [ { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "positive regulation of Golgi vesicle fusion to target membrane", "id": "GO:0048215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048215", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "phospholipid catabolic process", "id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" } ], "cellular_component": [ { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7YZT5", "url": "https://www.uniprot.org/uniprotkb/B7YZT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B7YZT5-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Thr506", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 506, "start_aa": "Thr", "end_pos": 506, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr506", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "B7YZT5-1" }, { "uniprot_canonical_ac": "M9MRX4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MRX4", "url": "https://www.uniprot.org/uniprotkb/M9MRX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 13559, "chemical_mass": 1488354.0, "gene_names": "Ank2;Ank2;CG18025;CG18227;CG18768;CG32373;CG32375;CG32377;CG34121;CG34158;CG34416;CG42734;CG7462;CG7493;DAnk2;Dank2;Dmel\\CG42734;Dmel_CG42734;ESTS:149B10S;SP2523;ank2-L;ank2;dank2;sp2523", "protein_name": "", "disease": [ { "disease_id": "DOID:0050824", "name": "sinoatrial node disease", "description": "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.", "url": "https://disease-ontology.org/term/DOID:0050824", "evidence": [ { "id": "0050824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050824" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0111700", "name": "ankyrin-B-related cardiac arrhythmia", "description": "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.", "url": "https://disease-ontology.org/term/DOID:0111700", "evidence": [ { "id": "0111700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111700" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2843", "name": "long QT syndrome", "description": "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).", "url": "https://disease-ontology.org/term/DOID:2843", "evidence": [ { "id": "2843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2843" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "M9MRX4", "url": "https://www.uniprot.org/uniprotkb/M9MRX4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "M9MRX4", "url": "https://www.uniprot.org/uniprotkb/M9MRX4" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "M9MRX4", "url": "https://www.uniprot.org/uniprotkb/M9MRX4" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "M9MRX4", "url": 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of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "kainate selective glutamate receptor activity", "id": "GO:0015277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015277", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of synaptic activity", "id": "GO:0060025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060025", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHJ0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A0B4KHJ0-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 185, "start_aa": "Thr", "end_pos": 185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr185", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A0A0B4KHJ0-1" }, { "uniprot_canonical_ac": "H9XVP2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 3186, "chemical_mass": 360416.0, "gene_names": "unc-13;CG2999;DUNC-13;Dmel\\CG2999;Dmel_CG2999;Dunc-13;Dunc13;Munc-13/UNC-13;Munc-13;UNC-13-B;UNC-13;UNC13A;UNC13B;Unc-13;Unc13A;Unc13B;Unc13;dUNC-13;dUnc-13;drunc13;dunc-13;l(4)ry16;unc-13;unc13A;unc", "protein_name": "", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "diacylglycerol binding", "id": "GO:0019992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019992", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" } ], "cellular_component": [ { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" } ], "biological_process": [ { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "dense core granule priming", "id": "GO:0061789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061789", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" }, { "name": "synaptic vesicle tethering involved in synaptic vesicle exocytosis", "id": "GO:0099069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099069", "evidence": [ { "database": "UniProtKB", "id": "H9XVP2", "url": "https://www.uniprot.org/uniprotkb/H9XVP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "H9XVP2-1", "start_pos": "870", "end_pos": "870", "site_lbl": "Thr870", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 870, "start_aa": "Thr", "end_pos": 870, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr870", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "H9XVP2-1" }, { "uniprot_canonical_ac": "A0A6H2EF03-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EF03", "url": "https://www.uniprot.org/uniprotkb/A0A6H2EF03" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 397, "chemical_mass": 44708.0, "gene_names": "Dmel\\CG5768;CG5768;Dmel_CG5768", "protein_name": "Membrane-associated protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A6H2EF03-1" }, { "uniprot_canonical_ac": "A0A0B4KHD0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHD0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 740, "chemical_mass": 80023.0, "gene_names": "Octalpha2R;CG18208;DmOctalpha2R;Dmel\\CG18208;Dmel_CG18208;Octalpha2R;Octalpha", "protein_name": "", "disease": [ { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.", "url": "https://disease-ontology.org/term/DOID:302", "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", 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"bt;39c-18;Bt;CG10285;CG1479;CG32019;CT3598;CT8086;Dmel\\CG32019;Dmel_CG32019;Prj;bt;l(2)23;l(2)2;l(4)102CDa;l(4)21;l(4)23;l(4)2;l(4)37;l(4)38;l(4)PT-2;projectin;titin", "protein_name": "", "disease": [ { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0081341", "name": "congenital myopathy 5", "description": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor 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3734.0, "gene_names": "Dmel\\CG46462;CG46462;Dmel_CG46462", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A6M3Q933-1" }, { "uniprot_canonical_ac": "A0A6M3QGN8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A6M3QGN8", "url": "https://www.uniprot.org/uniprotkb/A0A6M3QGN8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 33, "chemical_mass": 3783.0, "gene_names": "Dmel\\CG46435;CG46435;Dmel_CG46435", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A6M3QGN8-1" }, { "uniprot_canonical_ac": "A1Z6I7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6I7", "url": "https://www.uniprot.org/uniprotkb/A1Z6I7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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[], "sites": [], "record_id": "A1ZAR2-1" }, { "uniprot_canonical_ac": "A1ZAR4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAR4", "url": "https://www.uniprot.org/uniprotkb/A1ZAR4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 189, "chemical_mass": 19248.0, "gene_names": "Dmel\\CG30457;CG17288;CG30457-PA;CG30457;Dmel\\CG30457;Dmel_CG30457", "protein_name": "Skin secretory protein xP2-like", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAR4-1" }, { "uniprot_canonical_ac": "A1ZAS8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAS8", "url": "https://www.uniprot.org/uniprotkb/A1ZAS8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 754, 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phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "A1ZAS8", "url": "https://www.uniprot.org/uniprotkb/A1ZAS8" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004438", "evidence": [ { "database": "UniProtKB", "id": "A1ZAS8", "url": "https://www.uniprot.org/uniprotkb/A1ZAS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAS8-1" }, { "uniprot_canonical_ac": "A1ZAW6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAW6", "url": "https://www.uniprot.org/uniprotkb/A1ZAW6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 155, "chemical_mass": 17426.0, "gene_names": 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characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. 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], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1ZB70", "url": "https://www.uniprot.org/uniprotkb/A1ZB70" } ], "pmid": "" } ], "biological_process": [ { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "A1ZB70", "url": "https://www.uniprot.org/uniprotkb/A1ZB70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZB70-1" }, { "uniprot_canonical_ac": "A1ZB71-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZB71", "url": "https://www.uniprot.org/uniprotkb/A1ZB71" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 222, "chemical_mass": 25015.0, 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "A1ZB71", "url": "https://www.uniprot.org/uniprotkb/A1ZB71" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZB71-1" }, { "uniprot_canonical_ac": "A1ZBF7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZBF7", "url": "https://www.uniprot.org/uniprotkb/A1ZBF7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 904, "chemical_mass": 104348.0, "gene_names": "Vha100-3;BcDNA:AT03238;CG30329;Dmel\\CG30329;Dmel_CG30329;Vha100-3;vha100-3", "protein_name": "V-type proton ATPase subunit a", "disease": [ { "disease_id": "DOID:0061166", "name": "autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss", "description": "A renal tubular transport disease characterized by 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"database": "UniProtKB", "id": "A1ZBI8", "url": "https://www.uniprot.org/uniprotkb/A1ZBI8" } ], "pmid": "" }, { "name": "N-acetyltransferase activity", "id": "GO:0008080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008080", "evidence": [ { "database": "UniProtKB", "id": "A1ZBI8", "url": "https://www.uniprot.org/uniprotkb/A1ZBI8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZBI8-1" }, { "uniprot_canonical_ac": "A1ZBM3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZBM3", "url": "https://www.uniprot.org/uniprotkb/A1ZBM3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1366, "chemical_mass": 153507.0, "gene_names": "Oseg6;CG11237;Dmel\\CG11237;Dmel_CG11237;IFT144;OSEG6;OSEG;Oseg6;WDR19;Wdr19;oseg6", "protein_name": "", "disease": [ { "disease_id": "DOID:0050576", "name": "Senior-Loken 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