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"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: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: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: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 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "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": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" } ], "biological_process": [ { "name": "ecdysone biosynthetic process", "id": "GO:0006697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006697", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "molting cycle, chitin-based cuticle", "id": "GO:0007591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007591", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8Y592-1" }, { "uniprot_canonical_ac": "B7YZE5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 452, "chemical_mass": 50544.0, "gene_names": "CG17041;CG17041;CG17042;CG42319;Dmel\\CG42319;Dmel_CG42319", "protein_name": "PDZ domain-containing protein", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7YZE5-1" }, { "uniprot_canonical_ac": "B7YZI3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZI3", "url": "https://www.uniprot.org/uniprotkb/B7YZI3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 74, "chemical_mass": 8772.0, "gene_names": "Dmel\\CG42392;CG42392;Dmel\\CG42392;Dmel_CG42392", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7YZI3-1" }, { "uniprot_canonical_ac": "B7YZQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZQ4", "url": "https://www.uniprot.org/uniprotkb/B7YZQ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 577, "chemical_mass": 66654.0, "gene_names": "Ir60b;60b;CG13582;CG42289;DmelIR60b;Dmel\\CG42289;Dmel_CG42289;IR60b;Ir60b", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "B7YZQ4", "url": "https://www.uniprot.org/uniprotkb/B7YZQ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7YZQ4", "url": "https://www.uniprot.org/uniprotkb/B7YZQ4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B7YZQ4", "url": "https://www.uniprot.org/uniprotkb/B7YZQ4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "B7YZQ4", "url": "https://www.uniprot.org/uniprotkb/B7YZQ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7YZQ4-1" }, { "uniprot_canonical_ac": "B7YZU1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 536, "chemical_mass": 58537.0, "gene_names": "Dmel\\CG2121;CG2121;CG8698;Dmel\\CG2121;Dmel_CG2121", "protein_name": "UNC93-like protein", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" }, { "name": "striated muscle dense body", "id": "GO:0055120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055120", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "B7YZU1", "url": "https://www.uniprot.org/uniprotkb/B7YZU1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7YZU1-1" }, { "uniprot_canonical_ac": "B7YZU3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZU3", "url": "https://www.uniprot.org/uniprotkb/B7YZU3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 566, "chemical_mass": 64452.0, "gene_names": "Dmel\\CG8008;CG8008;Dmel\\CG8008;Dmel_CG8008", "protein_name": "Proton-coupled folate transporter", "disease": [ { "disease_id": "DOID:0111678", "name": "hereditary folate malabsorption", "description": "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.", "url": "https://disease-ontology.org/term/DOID:0111678", "evidence": [ { "id": "0111678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111678" } ], "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 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B7YZU3", "url": "https://www.uniprot.org/uniprotkb/B7YZU3" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "B7YZU3", "url": "https://www.uniprot.org/uniprotkb/B7YZU3" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "B7YZU3", "url": "https://www.uniprot.org/uniprotkb/B7YZU3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B7YZU3-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "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": 309, "start_aa": "Thr", "end_pos": 309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr309", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "B7YZU3-1" }, { "uniprot_canonical_ac": "B7Z001-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7Z001", "url": "https://www.uniprot.org/uniprotkb/B7Z001" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2540, "chemical_mass": 278000.0, "gene_names": "FASN1;BcDNA:GH07626;BcDNA:gh07626;CG3523;DM_7295848;Dmel\\CG3523;Dmel_CG3523;FAS1;FASN1;FASN[CG3523];FASN;FAS[CG3523];FAS;Fasn1;Fasn;Fas;Fatty acid synthase;anon-EST:Posey235;anon-EST:Posey43;anon-WO0138581.1;dFASN1;dFASN;dFAS;fasn;fas", "protein_name": "Fatty acid synthase", "disease": [ { "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: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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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "E1JGX1", "url": "https://www.uniprot.org/uniprotkb/E1JGX1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "E1JGX1", "url": "https://www.uniprot.org/uniprotkb/E1JGX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1JGX1-1" }, { "uniprot_canonical_ac": "E1JHF7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JHF7", "url": "https://www.uniprot.org/uniprotkb/E1JHF7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 83, "chemical_mass": 9593.0, "gene_names": "Dmel\\CG42471;CG42471;Dmel\\CG42471;Dmel_CG42471", "protein_name": "Seminal fluid 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 166, "chemical_mass": 18663.0, "gene_names": "Dmel\\CG42597;CG42597;Dmel\\CG42597;Dmel_CG42597", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E1JHP6-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "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": 5, "start_aa": "Thr", "end_pos": 5, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr5", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "E1JHP6-1" }, { "uniprot_canonical_ac": "E1JHQ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JHQ6", "url": "https://www.uniprot.org/uniprotkb/E1JHQ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 579, "chemical_mass": 62945.0, "gene_names": "Eaat2;CG3159;Dmel\\CG3159;Dmel_CG3159;EAAT2;EAAT;Eaat 2;Eaat2;dEAAT2;dEaat2", "protein_name": "Amino acid transporter", "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": 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"gene_names": "Rtnl1;142893_at;CG18623;CG33113;CG8895;Dmel\\CG33113;Dmel_CG33113;G9;RTNL1;Retl1;Rtn1;Rtnl-1;Rtnl1;rtnl1", "protein_name": "Reticulon-like protein", "disease": [ { "disease_id": "DOID:0110765", "name": "hereditary spastic paraplegia 12", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110765", "evidence": [ { "id": "0110765", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110765" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney 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nAChR;Dalpha7-nAChR;Dalpha7nAChRs;Dalpha7;Dmel\\CG32538;Dmel_CG32538;gfA;gfa;jpl;nAChR-Dalpha7;nAChR-gfa;nAChRalpha7;nAChR;nAcR-alpha-18C;nAcRalpha-18C;nAcRalpha-7;nAcRalpha18C;nAchRa7;nj507;nj520;nj522;nj54;nj75", "protein_name": "", "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: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 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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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"cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E1JJR2", "url": "https://www.uniprot.org/uniprotkb/E1JJR2" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "E1JJR2", "url": "https://www.uniprot.org/uniprotkb/E1JJR2" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "E1JJR2", "url": "https://www.uniprot.org/uniprotkb/E1JJR2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "E1JJR2", "url": "https://www.uniprot.org/uniprotkb/E1JJR2" } ], "pmid": "" }, { "name": "dendritic spine", "id": 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1613, "chemical_mass": 184624.0, "gene_names": "pcm;CG3291;DmXrn1;Dmel\\CG3291;Dmel_CG3291;PCM;Pcm;XRN1/pcm;XRN1;Xrn1p;Xrn1;dXRN1;pcm", "protein_name": "5'-3' exoribonuclease 1", "disease": [ { "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 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006353", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "regulation of cytoplasmic mRNA processing body assembly", "id": "GO:0010603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010603", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "rRNA catabolic process", "id": "GO:0016075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016075", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:0000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000288", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "positive regulation of imaginal disc 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"GO:0004534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004534", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "5'-3' exonuclease activity", "id": "GO:0008409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008409", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "catalytic activity, acting on RNA", "id": "GO:0140098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140098", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "E1JJR3", "url": "https://www.uniprot.org/uniprotkb/E1JJR3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E1JJR3-1", "start_pos": "1177", "end_pos": "1177", "site_lbl": "Thr1177", "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": 1177, "start_aa": "Thr", "end_pos": 1177, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1177", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "E1JJR3-1" }, { "uniprot_canonical_ac": "E1JJR5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JJR5", "url": "https://www.uniprot.org/uniprotkb/E1JJR5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 85, "chemical_mass": 10099.0, "gene_names": "Dmel\\CG42581;CG42581;Dmel\\CG42581;Dmel_CG42581", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1JJR5-1" }, { "uniprot_canonical_ac": "E1JJS1-1", "species": [ { "name": "Drosophila 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"https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "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: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:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "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:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a 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"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:10128", "name": "venous insufficiency", "description": "A vein disease that is characterized by impaired flow of blood through the veins.", "url": "https://disease-ontology.org/term/DOID:10128", "evidence": [ { "id": "10128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10128" } ], "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: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:1037", "name": "lymphoid leukemia", "description": "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:1037", "evidence": [ { "id": "1037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1037" } ], "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:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "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: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:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "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: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: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: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: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:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "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:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "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:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "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: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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "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: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: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: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: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: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: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: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "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: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:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "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: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: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: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: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:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:615", "name": "leukopenia", "description": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.", "url": "https://disease-ontology.org/term/DOID:615", "evidence": [ { "id": "615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:615" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "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: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:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "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: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: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: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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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: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: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": 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"familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or 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}, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "M9PB06", "url": "https://www.uniprot.org/uniprotkb/M9PB06" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "M9PB06", "url": "https://www.uniprot.org/uniprotkb/M9PB06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M9PB06-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Thr31", "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": 31, "start_aa": "Thr", "end_pos": 31, "end_aa": "Thr", 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"M9PBF3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBF3", "url": "https://www.uniprot.org/uniprotkb/M9PBF3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 15, "chemical_mass": 1722.0, "gene_names": "Dmel\\CG43739;CG43739;Dm_2L:110584;Dmel\\CG43739;Dmel_CG43739", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PBF3-1" }, { "uniprot_canonical_ac": "M9PBN2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 245, "chemical_mass": 27155.0, "gene_names": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VDY5", "url": "https://www.uniprot.org/uniprotkb/Q9VDY5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9VDY5", "url": "https://www.uniprot.org/uniprotkb/Q9VDY5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VDY5-1", "start_pos": "2011", "end_pos": "2011", "site_lbl": "Thr2011", "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": 2011, "start_aa": "Thr", "end_pos": 2011, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2011", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VDY5-1" }, { "uniprot_canonical_ac": "Q9VEP2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEP2", "url": "https://www.uniprot.org/uniprotkb/Q9VEP2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 879, "chemical_mass": 100970.0, "gene_names": "Dmel\\CG18213;CG18213;Dmel\\CG18213;Dmel_CG18213", "protein_name": "MYND-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VEP2", "url": "https://www.uniprot.org/uniprotkb/Q9VEP2" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VEP2", "url": "https://www.uniprot.org/uniprotkb/Q9VEP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEP2-1" }, { "uniprot_canonical_ac": "Q7KTC0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTC0", "url": "https://www.uniprot.org/uniprotkb/Q7KTC0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1549, "chemical_mass": 173594.0, "gene_names": "MRP;ABCC1;CG6214;DmCG6214;Dmel\\CG6214;Dmel_CG6214;MRP1;MRP;Mrp1;Mrp;dMRP/CG6214;dMRP1;dMRP;dmrp;lincRNA.123", "protein_name": "ABC-type glutathione-S-conjugate transporter", "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. 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:0112168", "name": "autosomal dominant nonsyndromic deafness 77", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.", "url": "https://disease-ontology.org/term/DOID:0112168", "evidence": [ { "id": "0112168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112168" } ], "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:12308", "name": "Dubin-Johnson syndrome", "description": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.", "url": "https://disease-ontology.org/term/DOID:12308", "evidence": [ { "id": "12308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12308" } ], "weight": 0.0 }, { "disease_id": "DOID:12700", "name": "hyperprolactinemia", "description": "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.", "url": "https://disease-ontology.org/term/DOID:12700", "evidence": [ { "id": "12700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12700" } ], "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: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: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: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:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "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: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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "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: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: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: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: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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7KTC0", "url": "https://www.uniprot.org/uniprotkb/Q7KTC0" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q7KTC0", "url": "https://www.uniprot.org/uniprotkb/Q7KTC0" } ], "pmid": "" }, { "name": "ABC-type glutathione S-conjugate transporter activity", "id": "GO:0015431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015431", "evidence": [ { "database": "UniProtKB", "id": "Q7KTC0", "url": "https://www.uniprot.org/uniprotkb/Q7KTC0" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q7KTC0", "url": 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autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.", "url": "https://disease-ontology.org/term/DOID:0112159", "evidence": [ { "id": "0112159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112159" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood 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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: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: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:445", "name": "Bartter disease", "description": "", "url": "https://disease-ontology.org/term/DOID:445", "evidence": [ { "id": "445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:445" } ], "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": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" } ], "biological_process": [ { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "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": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "potassium ion homeostasis", "id": "GO:0055075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "sodium ion homeostasis", "id": "GO:0055078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055078", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "chloride ion homeostasis", "id": "GO:0055064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055064", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "detection of cold stimulus involved in thermoception", "id": "GO:0120169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120169", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" } ], "molecular_function": [ { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "sodium:potassium:chloride symporter activity", "id": "GO:0008511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008511", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PI37-1" }, { "uniprot_canonical_ac": "M9PIH9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 471, "chemical_mass": 51785.0, "gene_names": "TfAP-2;AP-2alpha;AP-2;CG7807;DAP-2;Dmel\\CG7807;Dmel_CG7807;TfAP-2;TfaP-2;Tfap-2;Tfap2;dAP-2alpha;dAP-2;dTfap2;l(3)1215;tfAP-2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0050691", "name": "branchiooculofacial syndrome", "description": "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.", "url": "https://disease-ontology.org/term/DOID:0050691", "evidence": [ { "id": "0050691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050691" } ], "weight": 0.0 }, { "disease_id": "DOID:0060563", "name": "Char syndrome", "description": "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.", "url": "https://disease-ontology.org/term/DOID:0060563", "evidence": [ { "id": "0060563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060563" } ], "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: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: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:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 } ], "biological_process": [ { "name": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "inter-male aggressive behavior", "id": "GO:0002121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002121", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "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": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "adult feeding behavior", "id": "GO:0008343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008343", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "imaginal disc-derived leg joint morphogenesis", "id": "GO:0016348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016348", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "proboscis development", "id": "GO:0048728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048728", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia development", "id": "GO:0007485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007485", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "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": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": 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"name": "phosphatidylinositol 3-kinase catalytic subunit binding", "id": "GO:0036313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036313", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "cytoplasm", "id": 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"cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": "https://www.uniprot.org/uniprotkb/Q7KT13" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": "https://www.uniprot.org/uniprotkb/Q7KT13" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": "https://www.uniprot.org/uniprotkb/Q7KT13" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 590, "chemical_mass": 67222.0, "gene_names": "Ntl;CG7075;Dmel\\CG7075;Dmel_CG7075;Mp;NTL;Ntl;ntl", "protein_name": "Transporter", "disease": [], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY6", "url": "https://www.uniprot.org/uniprotkb/Q9VLY6" } ], "pmid": "" }, { "name": "glycine transmembrane transporter activity", "id": "GO:0015187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015187", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY6", "url": "https://www.uniprot.org/uniprotkb/Q9VLY6" } ], "pmid": "" }, { "name": "L-proline transmembrane transporter activity", "id": "GO:0015193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015193", "evidence": [ { "database": "UniProtKB", "id": 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"UniProtKB", "id": "Q8IRK8", "url": "https://www.uniprot.org/uniprotkb/Q8IRK8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8IRK8", "url": "https://www.uniprot.org/uniprotkb/Q8IRK8" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q8IRK8", "url": "https://www.uniprot.org/uniprotkb/Q8IRK8" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q8IRK8", "url": "https://www.uniprot.org/uniprotkb/Q8IRK8" } ], "pmid": "" }, { "name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "Q8IRK8", "url": 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"https://www.uniprot.org/uniprotkb/Q8IRK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRK8-1" }, { "uniprot_canonical_ac": "Q8IRM9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRM9", "url": "https://www.uniprot.org/uniprotkb/Q8IRM9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 230, "chemical_mass": 26539.0, "gene_names": "Dmel\\CG32706;CG32706;Dmel\\CG32706;Dmel_CG32706", "protein_name": "Activator of basal transcription 1", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8IRM9", "url": "https://www.uniprot.org/uniprotkb/Q8IRM9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 202, "chemical_mass": 22060.0, "gene_names": "Dmel\\CG32797;CG32797;Dmel\\CG32797;Dmel_CG32797", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW0", "url": "https://www.uniprot.org/uniprotkb/Q8IRW0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRW0-1" }, { "uniprot_canonical_ac": "Q8MLS6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLS6", "url": "https://www.uniprot.org/uniprotkb/Q8MLS6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 366, "chemical_mass": 43285.0, "gene_names": 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"Q8MLS6", "url": "https://www.uniprot.org/uniprotkb/Q8MLS6" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS6", "url": "https://www.uniprot.org/uniprotkb/Q8MLS6" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS6", "url": "https://www.uniprot.org/uniprotkb/Q8MLS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS6", "url": "https://www.uniprot.org/uniprotkb/Q8MLS6" } ], "pmid": "" }, { "name": "taste receptor activity", "id": "GO:0008527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008527", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS6", "url": "https://www.uniprot.org/uniprotkb/Q8MLS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLS6-1" }, { "uniprot_canonical_ac": "Q8MLS8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLS8", "url": "https://www.uniprot.org/uniprotkb/Q8MLS8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 268, "chemical_mass": 29764.0, "gene_names": "BcDNA:GH11992;BcDNA:GH11992;CG30331;CG32833;CG9898;Dmel\\CG32833;Dmel_CG32833;SPH196a;SPH196", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS8", "url": "https://www.uniprot.org/uniprotkb/Q8MLS8" } ], 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"mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Z0", "url": "https://www.uniprot.org/uniprotkb/Q9V9Z0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Z0", "url": "https://www.uniprot.org/uniprotkb/Q9V9Z0" } ], "pmid": "" } ], "molecular_function": [ { "name": "methionyl-tRNA formyltransferase activity", "id": "GO:0004479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004479", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Z0", "url": "https://www.uniprot.org/uniprotkb/Q9V9Z0" } ], "pmid": "" } ], "biological_process": [ { "name": "conversion of methionyl-tRNA to N-formyl-methionyl-tRNA", "id": "GO:0071951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071951", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Z0", "url": 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"Drosophila melanogaster [7227]" } ], "length": 137, "chemical_mass": 15491.0, "gene_names": "Dmel\\CG15549;BcDNA:AT07554;CG15549;Dmel\\CG15549;Dmel_CG15549", "protein_name": "Transmembrane protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VA25-1" }, { "uniprot_canonical_ac": "Q9VAN4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1320, "chemical_mass": 150101.0, "gene_names": "Dmel\\CG11898;CG11898;DmCG11898;Dme_CG11898;Dmel\\CG11898;Dmel_CG11898", "protein_name": "", "disease": [ { "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": 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], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAN4-1" }, { "uniprot_canonical_ac": "Q9VAR6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 413, "chemical_mass": 45292.0, "gene_names": "DIP-gamma;14521;CG14521;CT34248;DIP-gamma;DIPgamma;Dmel\\CG14521;Dmel_CG14521;anon-WO0140519.196", "protein_name": "", "disease": [ { "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 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"id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "pmid": "" }, { "name": "regulation of neuromuscular junction development", "id": "GO:1904396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904396", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "pmid": "" }, { "name": "photoreceptor cell axon guidance", "id": "GO:0072499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072499", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "pmid": "" } ], "cellular_component": [ { "name": "neuron projection membrane", "id": "GO:0032589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032589", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "pmid": "" }, { "name": "plasma 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VBT1-1" }, { "uniprot_canonical_ac": "Q9VBV1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VBV1", "url": "https://www.uniprot.org/uniprotkb/Q9VBV1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 250, "chemical_mass": 27987.0, "gene_names": "Dmel\\CG11854;CG11854;Dmel\\CG11854;Dmel_CG11854", "protein_name": "Protein takeout", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VBV1", "url": "https://www.uniprot.org/uniprotkb/Q9VBV1" } ], "pmid": "" } ], "biological_process": [ { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VBZ8-1" }, { "uniprot_canonical_ac": "Q9VC02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VC02", "url": "https://www.uniprot.org/uniprotkb/Q9VC02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 527, "chemical_mass": 58960.0, "gene_names": "mah;CG13646;Dmel\\CG13646;Dmel_CG13646;mah", "protein_name": "", "disease": [], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q9VC02", "url": "https://www.uniprot.org/uniprotkb/Q9VC02" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid:proton antiporter activity", "id": "GO:0140800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140800", "evidence": [ { 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movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0080552", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ], "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:3490", "name": "Noonan syndrome", "description": "A RASopathy that is 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"taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDU2", "url": "https://www.uniprot.org/uniprotkb/Q9VDU2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 542, "chemical_mass": 59881.0, "gene_names": "Acsx2;Acsx2;CG11391;Dmel\\CG11391;Dmel_CG11391", "protein_name": "", "disease": [ { "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 } ], "biological_process": [ { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU2", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDV8", "url": "https://www.uniprot.org/uniprotkb/Q9VDV8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 533, "chemical_mass": 59874.0, "gene_names": "Dmel\\CG17751;CG17751;Dmel\\CG17751;Dmel_CG17751", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [ { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the 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"site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 27, "start_aa": "Thr", "end_pos": 27, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr27", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VE68-1" }, { "uniprot_canonical_ac": "Q9VE79-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE79", "url": "https://www.uniprot.org/uniprotkb/Q9VE79" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 966, "chemical_mass": 110612.0, "gene_names": "Dmel\\CG14309;CG14309;Dmel\\CG14309;Dmel_CG14309", "protein_name": "Heparanase", "disease": [ { "disease_id": "DOID:0050816", "name": "urofacial syndrome", "description": "A syndrome that is characterized by inverted facial expressions in 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"database": "UniProtKB", "id": "Q9VEF1", "url": "https://www.uniprot.org/uniprotkb/Q9VEF1" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VEF1", "url": "https://www.uniprot.org/uniprotkb/Q9VEF1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VEF1", "url": "https://www.uniprot.org/uniprotkb/Q9VEF1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9VEF1", "url": "https://www.uniprot.org/uniprotkb/Q9VEF1" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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"id": "Q9VEH4", "url": "https://www.uniprot.org/uniprotkb/Q9VEH4" } ], "pmid": "" } ], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9VEH4", "url": "https://www.uniprot.org/uniprotkb/Q9VEH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEH4-1" }, { "uniprot_canonical_ac": "Q9VEI2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEI2", "url": "https://www.uniprot.org/uniprotkb/Q9VEI2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 301, "chemical_mass": 32054.0, "gene_names": "Dmel\\CG14329;CG14329;Dmel\\CG14329;Dmel_CG14329", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VEI2-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Thr259", "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": 259, "start_aa": "Thr", "end_pos": 259, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr259", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VEI2-1" }, { "uniprot_canonical_ac": "Q9VEJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 89, "chemical_mass": 9902.0, "gene_names": "Dmel\\CG14330;CG14330;Dmel\\CG14330;Dmel_CG14330", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEJ7-1" }, { "uniprot_canonical_ac": "Q9VEK2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEK2", "url": "https://www.uniprot.org/uniprotkb/Q9VEK2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 223, "chemical_mass": 25715.0, "gene_names": "Dmel\\CG5866;CG5866;Dmel\\CG5866;Dmel_CG5866", "protein_name": "Histidine-rich glycoprotein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEK2-1" }, { "uniprot_canonical_ac": "Q9VEK3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEK3", "url": "https://www.uniprot.org/uniprotkb/Q9VEK3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 395, "chemical_mass": 43182.0, "gene_names": "Dmel\\CG5863;CG5863;Dmel\\CG5863;Dmel_CG5863", "protein_name": "Peptidase A1 domain-containing protein", "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. 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 212, "chemical_mass": 21836.0, "gene_names": "VhaPPA1-2;CG7026;Dmel\\CG7026;Dmel_CG7026;VhaPPA1-2;vhaPPA1-2", "protein_name": "V-type proton ATPase 16 kDa proteolipid subunit c", "disease": [], "cellular_component": [ { "name": "proton-transporting V-type ATPase complex", "id": "GO:0033176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033176", "evidence": [ { "database": "UniProtKB", "id": "Q9VFE5", "url": "https://www.uniprot.org/uniprotkb/Q9VFE5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VFE5", "url": "https://www.uniprot.org/uniprotkb/Q9VFE5" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V0 domain", "id": "GO:0000220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000220", "evidence": [ { "database": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 560, "chemical_mass": 61816.0, "gene_names": "Dmel\\CG14857;CG14857;Dmel\\CG14857;Dmel_CG14857", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [ { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "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" } ], 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"proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC0", "url": "https://www.uniprot.org/uniprotkb/Q9VGC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGC0-1" }, { "uniprot_canonical_ac": "Q9VGF2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGF2", "url": "https://www.uniprot.org/uniprotkb/Q9VGF2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 340, "chemical_mass": 38021.0, "gene_names": "Dmel\\CG12224;CG12224;Dmel_CG12224", "protein_name": "NADP-dependent oxidoreductase domain-containing protein", "disease": [], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGY8-1" }, { "uniprot_canonical_ac": "Q9VH32-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH32", "url": "https://www.uniprot.org/uniprotkb/Q9VH32" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 19040.0, "gene_names": "Npc2d;CG12813;Dmel\\CG12813;Dmel_CG12813;Npc2d;npc2d", "protein_name": "", "disease": [ { "disease_id": "DOID:0070114", "name": "Niemann-Pick disease type C2", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.", "url": "https://disease-ontology.org/term/DOID:0070114", "evidence": [ { "id": "0070114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070114" } ], "weight": 0.0 }, { "disease_id": "DOID:14504", "name": 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"database": "UniProtKB", "id": "Q9VHJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VHJ0" } ], "pmid": "" } ], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VHJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VHJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHJ0-1" }, { "uniprot_canonical_ac": "Q9VHR4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 354, "chemical_mass": 41087.0, "gene_names": "Dmel\\CG7963;CG7963;Dmel\\CG7963;Dmel_CG7963", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHR4-1" }, { "uniprot_canonical_ac": "Q9VII7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 372, "chemical_mass": 41687.0, "gene_names": "Spn38F;CG9334;Dmel\\CG9334;Dmel_CG9334;Sp3;Spn38F;Spn3;sp3", "protein_name": "", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "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:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "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: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:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "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: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: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: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: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:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "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: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:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "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:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "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: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: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:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "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: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: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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "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: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: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: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: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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "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:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "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: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: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: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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "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: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:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "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: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: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: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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "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: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: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: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: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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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: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: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "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": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "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": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VII7-1" }, { "uniprot_canonical_ac": "Q9VIJ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 198, "chemical_mass": 22652.0, "gene_names": "CheB38c;CG14405;CheB38c;Dmel\\CG14405;Dmel_CG14405", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" }, { "name": "detection of pheromone", "id": "GO:0043695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043695", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VIJ1-1" }, { "uniprot_canonical_ac": "Q9VIS5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 3781, "chemical_mass": 434775.0, "gene_names": "Dmel\\CG10631;CG10631;Dmel\\CG10631;Dmel_CG10631", "protein_name": "", "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": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VIS5-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Thr1106", "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": 1106, "start_aa": "Thr", "end_pos": 1106, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1106", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VIS5-1", "start_pos": "1943", "end_pos": "1943", "site_lbl": "Thr1943", "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": 1943, "start_aa": "Thr", "end_pos": 1943, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1943", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VIS5-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Thr849", "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": 849, "start_aa": "Thr", "end_pos": 849, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr849", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VIS5-1" }, { "uniprot_canonical_ac": "Q9VIS9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIS9", "url": "https://www.uniprot.org/uniprotkb/Q9VIS9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 578, "chemical_mass": 65401.0, "gene_names": "Dmel\\CG10366;CG10366;Dmel\\CG10366;Dmel_CG10366", "protein_name": "Zinc finger protein 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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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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": "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:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VJV2", "url": "https://www.uniprot.org/uniprotkb/Q9VJV2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VJV2", "url": "https://www.uniprot.org/uniprotkb/Q9VJV2" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VJV2", "url": "https://www.uniprot.org/uniprotkb/Q9VJV2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": 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Loss of mitochondrial transcription.", "evidence": [ { "database": "UniProtKB", "id": "Q9VL76", "url": "https://www.uniprot.org/uniprotkb/Q9VL76" }, { "database": "PubMed", "id": "17272269", "url": "https://glygen.org/publication/PubMed/17272269" } ] } ] }, { "uniprot_canonical_ac": "Q9VL76-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Cys63", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect ion and sulfide binding. 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intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "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:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "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: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:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "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: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: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: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: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:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "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: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:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "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:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "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: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: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:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "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: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: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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "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: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: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: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: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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "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:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "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: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: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: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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "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: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:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "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: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: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: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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "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: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: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: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: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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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: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: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "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": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLQ7-1" }, { "uniprot_canonical_ac": "Q9VLT6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLT6", "url": "https://www.uniprot.org/uniprotkb/Q9VLT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2892, "chemical_mass": 322972.0, "gene_names": "Megf8;CG7466;Dmel\\CG7466;Dmel_CG7466;Megf8;dMegf8", "protein_name": "", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0060234", "name": "Carpenter syndrome", "description": "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.", "url": "https://disease-ontology.org/term/DOID:0060234", "evidence": [ { "id": "0060234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060234" } ], "weight": 0.0 }, { "disease_id": "DOID:0061099", "name": "Carpenter syndrome 2", "description": "A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0061099", "evidence": [ { "id": "0061099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061099" } ], "weight": 0.0 } ], "biological_process": [ { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT6", "url": "https://www.uniprot.org/uniprotkb/Q9VLT6" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT6", "url": "https://www.uniprot.org/uniprotkb/Q9VLT6" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT6", "url": "https://www.uniprot.org/uniprotkb/Q9VLT6" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT6", "url": "https://www.uniprot.org/uniprotkb/Q9VLT6" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT6", "url": "https://www.uniprot.org/uniprotkb/Q9VLT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLT6-1" }, { "uniprot_canonical_ac": "Q9VM30-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM30", "url": "https://www.uniprot.org/uniprotkb/Q9VM30" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 620, "chemical_mass": 70090.0, "gene_names": "Dmel\\CG13786;CG13786;Dmel\\CG13786;Dmel_CG13786", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VM30-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Thr579", "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": 579, "start_aa": "Thr", "end_pos": 579, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr579", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VM30-1" }, { "uniprot_canonical_ac": "X2JDC2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JDC2", "url": "https://www.uniprot.org/uniprotkb/X2JDC2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 546, "chemical_mass": 60436.0, "gene_names": "Dmel\\CG9109;CG9109;Dmel\\CG9109;Dmel_CG9109;dC1GalT9", "protein_name": "Fringe-like glycosyltransferase domain-containing protein", "disease": [ { "disease_id": "DOID:0080201", "name": "Peters plus syndrome", "description": "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.", "url": "https://disease-ontology.org/term/DOID:0080201", "evidence": [ { "id": "0080201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080201" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "X2JDC2", "url": "https://www.uniprot.org/uniprotkb/X2JDC2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "X2JDC2", "url": "https://www.uniprot.org/uniprotkb/X2JDC2" } ], "pmid": "" } ], 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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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"glutamate-gated receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "kainate selective glutamate receptor activity", "id": "GO:0015277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015277", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "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": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" } ], "cellular_component": [ { "name": "ionotropic glutamate receptor complex", "id": "GO:0008328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008328", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "muscle cell postsynaptic specialization", "id": "GO:0097482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097482", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "regulation of synaptic activity", "id": "GO:0060025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060025", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMP3-1" }, { "uniprot_canonical_ac": "Q9VMP5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 238, "chemical_mass": 27408.0, "gene_names": "Dmel\\CG14017;CG14017;Dmel\\CG14017;Dmel_CG14017", "protein_name": "Cilia- and flagella-associated protein 299", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "pmid": "" } ], "biological_process": [ { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMP5-1" }, { "uniprot_canonical_ac": "Q9VN31-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 701, "chemical_mass": 78615.0, "gene_names": "Fip1;CG1078;Dmel\\CG1078;Dmel_CG1078;FIP1;Fip1;anon-EST:Liang-1.35;clone 1.35;dFip1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" }, { "name": "mRNA cleavage and polyadenylation specificity factor complex", "id": "GO:0005847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005847", "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" }, { "name": "mRNA 3'-end processing by stem-loop binding and cleavage", "id": "GO:0006398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006398", "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" } ], "molecular_function": [ { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VN31-1" }, { "uniprot_canonical_ac": "Q9VN36-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VN36", "url": "https://www.uniprot.org/uniprotkb/Q9VN36" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 578, "chemical_mass": 60549.0, "gene_names": "Mur82C;CG12586;Dmel\\CG12586;Dmel_CG12586;Mur82C", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9VN36", "url": "https://www.uniprot.org/uniprotkb/Q9VN36" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q9VN36", "url": "https://www.uniprot.org/uniprotkb/Q9VN36" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VN36-1" }, { "uniprot_canonical_ac": "Q9VNQ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VNQ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 152, "chemical_mass": 16007.0, "gene_names": "Dmel\\CG13239;CG13239;Dmel\\CG13239;Dmel_CG13239", "protein_name": "DUF4794 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNQ5-1" }, { "uniprot_canonical_ac": "Q9VNW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNW4", "url": "https://www.uniprot.org/uniprotkb/Q9VNW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 533, "chemical_mass": 61946.0, "gene_names": "G6pdl;CG7140;Dmel\\CG7140;Dmel_CG7140", "protein_name": "Glucose-6-phosphate 1-dehydrogenase", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0051003", "name": "congenital nonspherocytic hemolytic anemia 1", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia.", "url": "https://disease-ontology.org/term/DOID:0051003", "evidence": [ { "id": "0051003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051003" } ], "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:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "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:13628", "name": "favism", "description": "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.", "url": "https://disease-ontology.org/term/DOID:13628", "evidence": [ { "id": "13628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13628" } ], "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: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: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: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:2383", "name": "neonatal jaundice", "description": "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.", "url": "https://disease-ontology.org/term/DOID:2383", "evidence": [ { "id": "2383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2383" } ], "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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "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: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: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 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VNW4", "url": "https://www.uniprot.org/uniprotkb/Q9VNW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity, acting on CH-OH group of donors", "id": "GO:0016614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016614", "evidence": [ { 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"Q9VQ68-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ68", "url": "https://www.uniprot.org/uniprotkb/Q9VQ68" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 994, "chemical_mass": 109481.0, "gene_names": "Dmel\\CG42296;CG15378;CG42296;Dmel\\CG42296;Dmel_CG42296", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ68", "url": "https://www.uniprot.org/uniprotkb/Q9VQ68" } ], "pmid": "" }, { "name": "external encapsulating structure", "id": "GO:0030312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030312", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ68", "url": "https://www.uniprot.org/uniprotkb/Q9VQ68" } ], 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Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.", "url": "https://disease-ontology.org/term/DOID:0080222", "evidence": [ { "id": "0080222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080222" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "Golgi trans cisterna", "id": "GO:0000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000138", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "vesicle docking", "id": "GO:0048278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048278", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" } ], "molecular_function": [ { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR90-1" }, { "uniprot_canonical_ac": "Q9VRA9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 663, "chemical_mass": 70326.0, "gene_names": "RunxB;CG15454;CG15455;CG42267;Dmel\\CG42267;Dmel_CG42267;RUNXB;RunxB", "protein_name": "", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "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: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:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:0111513", "name": "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome", "description": "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.", "url": "https://disease-ontology.org/term/DOID:0111513", "evidence": [ { "id": "0111513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111513" } ], "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: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: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:13994", "name": "cleidocranial dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.", "url": "https://disease-ontology.org/term/DOID:13994", "evidence": [ { "id": "13994", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13994" } ], "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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "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: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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: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:3033", "name": "colon signet ring adenocarcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3033", "evidence": [ { "id": "3033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3033" } ], "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: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: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: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:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "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:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "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 } ], "biological_process": [ { "name": "developmental process involved in reproduction", "id": "GO:0003006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003006", "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "pmid": "" }, { "name": "eye morphogenesis", "id": "GO:0048592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048592", "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "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": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "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": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRA9-1" }, { "uniprot_canonical_ac": "Q9VRI8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRI8", "url": "https://www.uniprot.org/uniprotkb/Q9VRI8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 563, "chemical_mass": 65254.0, "gene_names": "Ir20a;20a;CG14584;DmelIR20a;Dmel\\CG14584;Dmel_CG14584;IR20a;Ir20a", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q9VRI8", "url": "https://www.uniprot.org/uniprotkb/Q9VRI8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VRI8", "url": "https://www.uniprot.org/uniprotkb/Q9VRI8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VRI8", "url": "https://www.uniprot.org/uniprotkb/Q9VRI8" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q9VRI8", "url": "https://www.uniprot.org/uniprotkb/Q9VRI8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRI8-1" }, { "uniprot_canonical_ac": "Q9VRK9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRK9", "url": "https://www.uniprot.org/uniprotkb/Q9VRK9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 677, "chemical_mass": 76231.0, "gene_names": "Klp64D;CG10642;DmKlp64D;Dmel\\CG10642;Dmel_CG10642;KIF 3A;KIF3A;KLP4;KLP64Ddm;KLP64D;Kif3A;Klp 64D;Klp4;Klp64D;kif3A;klp64D", "protein_name": "Kinesin-like protein", 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"id": "Q9VTW6", "url": "https://www.uniprot.org/uniprotkb/Q9VTW6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VTW6", "url": "https://www.uniprot.org/uniprotkb/Q9VTW6" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9VTW6", "url": "https://www.uniprot.org/uniprotkb/Q9VTW6" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q9VTW6", "url": "https://www.uniprot.org/uniprotkb/Q9VTW6" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9VTW6", "url": 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transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q9W287", "url": "https://www.uniprot.org/uniprotkb/Q9W287" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W287-1" }, { "uniprot_canonical_ac": "Q9W295-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W295", "url": "https://www.uniprot.org/uniprotkb/Q9W295" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 410, "chemical_mass": 45327.0, "gene_names": "Dmel\\CG13502;CG13502;Dmel\\CG13502;Dmel_CG13502", "protein_name": "Outer dynein arm-docking complex subunit 4", "disease": [ { "disease_id": "DOID:0110620", "name": "primary ciliary dyskinesia 35", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive 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"name": "phosphoribosylaminoimidazolesuccinocarboxamide synthase activity", "id": "GO:0004639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004639", "evidence": [ { "database": "UniProtKB", "id": "Q9W2G2", "url": "https://www.uniprot.org/uniprotkb/Q9W2G2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2G2-1" }, { "uniprot_canonical_ac": "Q9W2I5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2I5", "url": "https://www.uniprot.org/uniprotkb/Q9W2I5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1312, "chemical_mass": 147775.0, "gene_names": "Dmel\\CG10505;CG10505;DmCG10505;Dme_CG10505;Dmel\\CG10505;Dmel_CG10505", "protein_name": "", "disease": [ { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the 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The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "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:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "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: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:12053", "name": "cryptococcosis", "description": "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.", "url": "https://disease-ontology.org/term/DOID:12053", "evidence": [ { "id": "12053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12053" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "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:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:1926", "name": "Gaucher's disease", "description": "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.", "url": "https://disease-ontology.org/term/DOID:1926", "evidence": [ { "id": "1926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1926" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "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: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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9360", "name": "intrinsic asthma", "description": "A chronic asthma that is triggered by factors not attributable to allergies.", "url": "https://disease-ontology.org/term/DOID:9360", "evidence": [ { "id": "9360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9360" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" } ], "biological_process": [ { "name": "polysaccharide catabolic process", "id": "GO:0000272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000272", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitinase activity", "id": "GO:0004568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004568", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "endochitinase activity", "id": "GO:0008843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008843", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2M7-1" }, { "uniprot_canonical_ac": "Q9W2R5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2R5", "url": "https://www.uniprot.org/uniprotkb/Q9W2R5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 225, "chemical_mass": 24595.0, "gene_names": "Dmel\\CG15225;CG15225;Dmel\\CG15225;Dmel_CG15225", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R5", "url": "https://www.uniprot.org/uniprotkb/Q9W2R5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2R5-1" }, { "uniprot_canonical_ac": "Q9W2S8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 911, "chemical_mass": 103366.0, "gene_names": "Dmel\\CG9806;CG9806;Dmel\\CG9806;Dmel_CG9806", "protein_name": "Aminopeptidase", "disease": [ { "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": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2S8-1" }, { "uniprot_canonical_ac": "Q9W2V1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2V1", "url": "https://www.uniprot.org/uniprotkb/Q9W2V1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 115, "chemical_mass": 12840.0, "gene_names": "Dmel\\CG12640;CG12640;Dmel\\CG12640;Dmel_CG12640", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2V1-1" }, { "uniprot_canonical_ac": "Q9W2X5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2X5", "url": "https://www.uniprot.org/uniprotkb/Q9W2X5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 35599.0, "gene_names": "Dmel\\CG2962;CG2962;Dmel\\CG2962;Dmel_CG2962", "protein_name": "DUF4766 domain-containing protein", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9W2X5", "url": "https://www.uniprot.org/uniprotkb/Q9W2X5" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9W2X5", "url": "https://www.uniprot.org/uniprotkb/Q9W2X5" } ], "pmid": "" } ], "cellular_component": [ { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q9W2X5", "url": "https://www.uniprot.org/uniprotkb/Q9W2X5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2X5-1" }, { "uniprot_canonical_ac": "Q9W365-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W365", "url": "https://www.uniprot.org/uniprotkb/Q9W365" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 936, "chemical_mass": 106299.0, "gene_names": "Ir8a;8a;CG12122;CG12666;CG32704;CT7438;DmelIR8a;Dmel\\CG32704;IR8a;Ir8a", "protein_name": "Ionotropic receptor coreceptor Ir8a", "disease": [ { "disease_id": "DOID:0080042", "name": "autosomal recessive spinocerebellar ataxia 18", "description": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:0080042", "evidence": [ { "id": "0080042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080042" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to chlorate", "id": "GO:0010157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010157", "evidence": [ { "database": "UniProtKB", "id": "Q9W365", "url": "https://www.uniprot.org/uniprotkb/Q9W365" } ], "pmid": "" }, { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q9W365", "url": "https://www.uniprot.org/uniprotkb/Q9W365" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception", "id": "GO:0050907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050907", "evidence": [ { "database": "UniProtKB", "id": "Q9W365", "url": "https://www.uniprot.org/uniprotkb/Q9W365" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": 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"zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4JDE2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4JDE2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4JDE2-1" }, { "uniprot_canonical_ac": "A0A0B4K7L9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7L9", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7L9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 40, "chemical_mass": 4585.0, "gene_names": "Dmel\\CG43397;CG43397;Dmel\\CG43397;Dmel_CG43397", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K7L9-1" }, { "uniprot_canonical_ac": "A0A0B4KEI4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KEI4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KEI4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 436, "chemical_mass": 48004.0, "gene_names": "pre-lola-G;CG44025;Dmel\\CG44025;Dmel_CG44025;pre-lola-G", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KEI4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KEI4" } ], "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": "A0A0B4KEI4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KEI4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": 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{ "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KG77", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KG77" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24445.0, "gene_names": "Dmel\\CG44013;CG14872;CG44013;Dmel\\CG44013;Dmel_CG44013", "protein_name": "Lipocalin/cytosolic fatty-acid binding domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4KG77-1" }, { "uniprot_canonical_ac": "A0A0B4KGL7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 750, "chemical_mass": 84713.0, "gene_names": 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"evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion mediated by integrin", "id": "GO:0033634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033634", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" }, { "name": "basal protein localization", "id": "GO:0045175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045175", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" }, { "name": "positive regulation of imaginal disc-derived wing size", "id": "GO:0120198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120198", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4KGL7-1" }, { "uniprot_canonical_ac": "A0A0B4KH86-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 652, "chemical_mass": 71724.0, "gene_names": "Irk1;CG13836;CG44159;CG6747;DIR;Dir;Dm_3R:100326;Dm_3R:100349;Dmel\\CG44159;Dmel_CG44159;Irk1;Ir;Kir1;dIRK;dKirI;irk1;ir", "protein_name": "", "disease": [ { "disease_id": "DOID:0050434", "name": "Andersen-Tawil syndrome", "description": "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.", "url": "https://disease-ontology.org/term/DOID:0050434", "evidence": [ { "id": "0050434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050434" } ], "weight": 0.0 }, { "disease_id": "DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.", "url": "https://disease-ontology.org/term/DOID:0050650", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ], "weight": 0.0 }, { "disease_id": "DOID:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by 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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:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.", "url": "https://disease-ontology.org/term/DOID:0060569", "evidence": [ { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" } ], "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:0061172", "name": "transient neonatal diabetes mellitus 3", "description": "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0061172", "evidence": [ { "id": "0061172", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061172" } ], "weight": 0.0 }, { "disease_id": "DOID:0070218", "name": "familial hyperinsulinemic hypoglycemia 2", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9VHY2", "url": "https://www.uniprot.org/uniprotkb/Q9VHY2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHY2-1" }, { "uniprot_canonical_ac": "Q9V9S4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9S4", "url": "https://www.uniprot.org/uniprotkb/Q9V9S4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 492, "chemical_mass": 53664.0, "gene_names": "Dmel\\CG2003;CG2003;Dmel\\CG2003;Dmel_CG2003", "protein_name": "Putative inorganic phosphate cotransporter", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S4", "url": "https://www.uniprot.org/uniprotkb/Q9V9S4" } 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901098", "evidence": [ { "database": "UniProtKB", "id": "Q7PLE9", "url": "https://www.uniprot.org/uniprotkb/Q7PLE9" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q7PLE9", "url": "https://www.uniprot.org/uniprotkb/Q7PLE9" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q7PLE9", "url": "https://www.uniprot.org/uniprotkb/Q7PLE9" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "Q7PLE9", "url": "https://www.uniprot.org/uniprotkb/Q7PLE9" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q7PLE9", "url": "https://www.uniprot.org/uniprotkb/Q7PLE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7PLE9-1" }, { "uniprot_canonical_ac": "Q8IRL2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRL2", "url": "https://www.uniprot.org/uniprotkb/Q8IRL2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1082, "chemical_mass": 117740.0, "gene_names": "Dmel\\CG32686;anon-WO02059370.11;BcDNA:AT25933;CG32686;Dmel\\CG32686;Dmel_CG32686;anon-WO02059370.11", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRL2-1" }, { "uniprot_canonical_ac": "Q8IRL9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WP43", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WP43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 156, "chemical_mass": 17854.0, "gene_names": "Dmel\\CG14459;CG14459;Dmel_CG14459", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0S0WP43-1" }, { "uniprot_canonical_ac": "Q9VAS9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2417, "chemical_mass": 261285.0, "gene_names": "Apc;APC1;APC;Apc1;Apc;CG1451;D-APC1;D-APC;DAPC;Dm APC1;Dmel\\CG1451;Dmel_CG1451;apc 1;apc1;apc;d-APC;dAPC1;dAPC;dApc;dapc1", "protein_name": "", "disease": [ { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon cancer.", "url": "https://disease-ontology.org/term/DOID:0050424", "evidence": [ { "id": "0050424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050424" } ], "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: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:0061143", "name": "complex cortical dysplasia with other brain malformations 10", "description": "A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0061143", "evidence": [ { "id": "0061143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061143" } ], "weight": 0.0 }, { "disease_id": "DOID:0080409", "name": "familial adenomatous polyposis 1", "description": "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.", "url": "https://disease-ontology.org/term/DOID:0080409", "evidence": [ { "id": "0080409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080409" } ], "weight": 0.0 }, { "disease_id": "DOID:0081218", "name": "autosomal recessive intellectual developmental disorder 74", "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.", "url": "https://disease-ontology.org/term/DOID:0081218", "evidence": [ { "id": "0081218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081218" } ], "weight": 0.0 }, { "disease_id": "DOID:0111349", "name": "hereditary desmoid disease", "description": "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.", "url": "https://disease-ontology.org/term/DOID:0111349", "evidence": [ { "id": "0111349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111349" } ], "weight": 0.0 }, { "disease_id": "DOID:0112104", "name": "Sotos syndrome 3", "description": "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0112104", "evidence": [ { "id": "0112104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112104" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "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: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: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: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: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: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: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: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: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3025", "name": "acinar cell carcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.", "url": "https://disease-ontology.org/term/DOID:3025", "evidence": [ { "id": "3025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3025" } ], "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: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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:657", "evidence": [ { "id": "657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:657" } ], "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" } ], "biological_process": [ { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "establishment or maintenance of microtubule cytoskeleton polarity", "id": "GO:0030951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030951", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "oocyte localization involved in germarium-derived egg chamber formation", "id": "GO:0030720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030720", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "negative regulation of compound eye retinal cell programmed cell death", "id": "GO:0046673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046673", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "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": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "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": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { 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the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2.", "url": "https://disease-ontology.org/term/DOID:0112243", "evidence": [ { "id": "0112243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112243" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of microtubule polymerization or depolymerization", "id": "GO:0031110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031110", "evidence": [ { "database": "UniProtKB", "id": "A1ZBF1", "url": "https://www.uniprot.org/uniprotkb/A1ZBF1" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "A1ZBF1", "url": "https://www.uniprot.org/uniprotkb/A1ZBF1" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZBX0-1" }, { "uniprot_canonical_ac": "A1ZBX7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZBX7", "url": "https://www.uniprot.org/uniprotkb/A1ZBX7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 146, "chemical_mass": 16729.0, "gene_names": "Dmel\\CG11159;CG11159;Dmel\\CG11159;Dmel_CG11159", "protein_name": "lysozyme", "disease": [ { "disease_id": "DOID:2326", "name": "gastroenteritis", "description": "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. 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"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: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:14179", "name": "X-linked agammaglobulinemia", "description": "An agammaglobulinemia 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"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:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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 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[], "sites": [], "record_id": "M9PCM2-1" }, { "uniprot_canonical_ac": "M9PD66-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PD66", "url": "https://www.uniprot.org/uniprotkb/M9PD66" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 134, "chemical_mass": 15599.0, "gene_names": "Dmel\\CG43924;CG43923;CG43924;Dmel\\CG43923;Dmel_CG43923;Dmel_CG43924", "protein_name": "DUF4777 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PD66-1" }, { "uniprot_canonical_ac": "M9PGG8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PGG8", "url": "https://www.uniprot.org/uniprotkb/M9PGG8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, 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"evidence": [ { "database": "UniProtKB", "id": "M9PGG8", "url": "https://www.uniprot.org/uniprotkb/M9PGG8" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "M9PGG8", "url": "https://www.uniprot.org/uniprotkb/M9PGG8" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "M9PGG8", "url": "https://www.uniprot.org/uniprotkb/M9PGG8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PGG8-1" }, { "uniprot_canonical_ac": "M9PGK3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PGK3", "url": "https://www.uniprot.org/uniprotkb/M9PGK3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", 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], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 437, "chemical_mass": 49856.0, "gene_names": "AP-2mu;AP-2mu;AP-50;AP2mu2;AP50;CG7057;Dmel\\CG7057;Dmel_CG7057;Dmu2;MENE (3R)-D;MENE(3R)-D;anon-EST:Posey50;anon-WO0172774.104;apm4;cg7057;mu2-ada;mu2", "protein_name": "", "disease": [ { "disease_id": "DOID:0061050", "name": "autosomal dominant intellectual developmental disorder 60 with seizures", "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.", "url": "https://disease-ontology.org/term/DOID:0061050", "evidence": [ { "id": "0061050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061050" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin 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"sites": [], "record_id": "O62602-1" }, { "uniprot_canonical_ac": "O76462-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O76462", "url": "https://www.uniprot.org/uniprotkb/O76462" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 338, "chemical_mass": 37872.0, "gene_names": "Bem46;Bem46;CG18642;Dmel\\CG18642;Dmel_CG18642;c1.6", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O76462", "url": "https://www.uniprot.org/uniprotkb/O76462" } ], "pmid": "" } ], "molecular_function": [ { "name": "palmitoyl-(protein) hydrolase activity", "id": "GO:0008474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008474", "evidence": [ { "database": "UniProtKB", "id": "O76462", "url": 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"cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O76865", "url": "https://www.uniprot.org/uniprotkb/O76865" } ], "pmid": "" }, { "name": "Golgi medial cisterna", "id": "GO:0005797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005797", "evidence": [ { "database": "UniProtKB", "id": "O76865", "url": "https://www.uniprot.org/uniprotkb/O76865" } ], "pmid": "" } ], "molecular_function": [ { "name": "UDP-galactose transmembrane transporter activity", "id": "GO:0005459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005459", "evidence": [ { "database": "UniProtKB", "id": "O76865", "url": "https://www.uniprot.org/uniprotkb/O76865" } ], "pmid": "" }, { "name": "UDP-N-acetylgalactosamine transmembrane transporter activity", "id": "GO:0005463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005463", "evidence": [ { "database": "UniProtKB", "id": "O76865", "url": 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7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IL43", "url": "https://www.uniprot.org/uniprotkb/Q6IL43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 83, "chemical_mass": 9559.0, "gene_names": "Dmel\\CG34247;CG34247;Dmel\\CG34247;Dmel_CG34247", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IL43-1" }, { "uniprot_canonical_ac": "Q6IL46-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IL46", "url": "https://www.uniprot.org/uniprotkb/Q6IL46" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 96, "chemical_mass": 10736.0, "gene_names": "DMG4-MB6.chr3L.27.007-MIP19202;CG42717;DMG4-MB6.chr3L.27.007-MIP19202;DMG4-MB6.chr3L.27.007;Dmel\\CG42717;Dmel_CG42717;HDC10387", "protein_name": "BPTI/Kunitz inhibitor domain-containing protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q6IL46", "url": "https://www.uniprot.org/uniprotkb/Q6IL46" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IL46-1" }, { "uniprot_canonical_ac": "Q6ILC6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6ILC6", "url": "https://www.uniprot.org/uniprotkb/Q6ILC6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 19632.0, "gene_names": "Dmel\\CG42397;CG42397;Dmel\\CG42397;Dmel_CG42397", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q6ILC6", "url": "https://www.uniprot.org/uniprotkb/Q6ILC6" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q6ILC6", "url": "https://www.uniprot.org/uniprotkb/Q6ILC6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6ILC6-1" }, { "uniprot_canonical_ac": "Q6NP91-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6NP91", "url": "https://www.uniprot.org/uniprotkb/Q6NP91" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 760, "chemical_mass": 86149.0, "gene_names": "Tmem63;CG11210;CT31310;Dmel\\CG11210;OSCA/TMEM63;TMEM63;Tmem63;tmem63", 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"url": "https://www.uniprot.org/uniprotkb/Q7KTJ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7KTJ8", "url": "https://www.uniprot.org/uniprotkb/Q7KTJ8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7KTJ8", "url": "https://www.uniprot.org/uniprotkb/Q7KTJ8" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q7KTJ8", "url": "https://www.uniprot.org/uniprotkb/Q7KTJ8" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q7KTJ8", "url": "https://www.uniprot.org/uniprotkb/Q7KTJ8" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q7KTJ8", "url": "https://www.uniprot.org/uniprotkb/Q7KTJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KTJ8-1" }, { "uniprot_canonical_ac": "Q7KTP7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTP7", "url": "https://www.uniprot.org/uniprotkb/Q7KTP7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 181, "chemical_mass": 20426.0, "gene_names": "CG5822;CG31919;CG44001;CG5822;Dmel\\CG44001;Dmel_CG44001;Dromel_CG31919_FBtr0079006_mORF;FBgn0264743", "protein_name": "Ankyrin repeat domain-containing protein 39", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KTP7-1" }, { "uniprot_canonical_ac": "Q7KTW1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTW1", "url": "https://www.uniprot.org/uniprotkb/Q7KTW1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 171, "chemical_mass": 18936.0, "gene_names": "Dmel\\CG33290;CG33290;Dmel\\CG33290;Dmel_CG33290", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KTW1-1" }, { "uniprot_canonical_ac": "Q7KTX1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTX1", "url": "https://www.uniprot.org/uniprotkb/Q7KTX1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 223, "chemical_mass": 26267.0, "gene_names": "Dmel\\CG33285;CG33285;Dmel\\CG33285;Dmel_CG33285;NEST:bs33a04;NEST:bs33a07", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KTX1-1" }, { "uniprot_canonical_ac": "Q7KUE6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUE6", "url": "https://www.uniprot.org/uniprotkb/Q7KUE6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 102, "chemical_mass": 11241.0, "gene_names": "Dmel\\CG33493;CG33493;CG6463;Dmel\\CG33493;Dmel_CG33493", "protein_name": "Secreted protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KUE6-1" }, { "uniprot_canonical_ac": "Q7KUE8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUE8", "url": "https://www.uniprot.org/uniprotkb/Q7KUE8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 235, "chemical_mass": 27026.0, "gene_names": "Dmel\\CG6216;CG6216;Dmel\\CG6216;Dmel_CG6216", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KUE8-1" }, { "uniprot_canonical_ac": "Q7KUG5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUG5", "url": "https://www.uniprot.org/uniprotkb/Q7KUG5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 497, "chemical_mass": 57423.0, "gene_names": "CG6110;CG33489;CG6110;Dmel\\CG33489;Dmel_CG33489", "protein_name": "EFHB C-terminal EF-hand domain-containing protein", "disease": [], "biological_process": [ { "name": "regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070884", "evidence": [ { "database": "UniProtKB", "id": "Q7KUG5", "url": "https://www.uniprot.org/uniprotkb/Q7KUG5" } ], "pmid": "" }, { "name": "regulation of store-operated calcium entry", "id": "GO:2001256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001256", "evidence": [ { "database": "UniProtKB", "id": "Q7KUG5", "url": "https://www.uniprot.org/uniprotkb/Q7KUG5" } ], "pmid": "" } ], "cellular_component": [ { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q7KUG5", "url": "https://www.uniprot.org/uniprotkb/Q7KUG5" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion sensor activity", "id": "GO:0061891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061891", "evidence": [ { "database": "UniProtKB", "id": "Q7KUG5", "url": "https://www.uniprot.org/uniprotkb/Q7KUG5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KUG5-1" }, { "uniprot_canonical_ac": "Q7KUG8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUG8", "url": "https://www.uniprot.org/uniprotkb/Q7KUG8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 9709.0, "gene_names": "CG17981;CG17981;CG33272;Dmel\\CG33272;Dmel_CG33272;FBgn0053272;HDC09626", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KUG8-1" }, { "uniprot_canonical_ac": "Q7KUN6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUN6", "url": "https://www.uniprot.org/uniprotkb/Q7KUN6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 82, "chemical_mass": 9560.0, 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polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q7KUN6", "url": "https://www.uniprot.org/uniprotkb/Q7KUN6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KUN6-1" }, { "uniprot_canonical_ac": "Q7KUZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUZ5", "url": "https://www.uniprot.org/uniprotkb/Q7KUZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 477, "chemical_mass": 53906.0, "gene_names": "CycD;CDI3;CG9096;CYCD;Cdi3;Cyc D;Cyc-D;CycD;DmcycD;Dmel\\CG9096;Dmel_CG9096;cdi3;cycD;cyclin D;cyclinD;dCycD", "protein_name": "", "disease": [ { "disease_id": "DOID:0050746", "name": "mantle cell lymphoma", "description": "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell 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"https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:14175", "name": "von Hippel-Lindau disease", "description": "", "url": "https://disease-ontology.org/term/DOID:14175", "evidence": [ { "id": "14175", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14175" } ], "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: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: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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "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: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: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: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: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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "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:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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:3304", "name": "germinoma", "description": "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.", "url": "https://disease-ontology.org/term/DOID:3304", "evidence": [ { "id": "3304", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3304" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "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": 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"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: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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "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:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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:4926", "name": 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or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0050601", "evidence": [ { "id": "0050601", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050601" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "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, 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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: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:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "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:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060081", "name": "triple-receptor negative breast cancer", "description": "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.", "url": "https://disease-ontology.org/term/DOID:0060081", "evidence": [ { "id": "0060081", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060081" } ], "weight": 0.0 }, { "disease_id": "DOID:0060330", "name": "Rapp-Hodgkin syndrome", "description": "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.", "url": "https://disease-ontology.org/term/DOID:0060330", "evidence": [ { "id": "0060330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060330" } ], "weight": 0.0 }, { "disease_id": "DOID:0060782", "name": "EEC syndrome", "description": "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).", "url": "https://disease-ontology.org/term/DOID:0060782", "evidence": [ { "id": "0060782", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060782" } ], "weight": 0.0 }, { "disease_id": "DOID:0060783", "name": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", "description": "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0060783", "evidence": [ { "id": "0060783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060783" } ], "weight": 0.0 }, { "disease_id": "DOID:0080173", "name": "bladder exstrophy-epispadias-cloacal exstrophy complex", "description": "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.", "url": "https://disease-ontology.org/term/DOID:0080173", "evidence": [ { "id": "0080173", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080173" } ], "weight": 0.0 }, { "disease_id": "DOID:0080174", "name": "bladder exstrophy", "description": "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.", "url": "https://disease-ontology.org/term/DOID:0080174", "evidence": [ { "id": "0080174", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080174" } ], "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:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0080202", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ], "weight": 0.0 }, { "disease_id": "DOID:0080401", "name": "orofacial cleft 8", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0080401", "evidence": [ { "id": "0080401", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080401" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "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: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:0090023", "name": "split hand-foot malformation 4", "description": "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0090023", "evidence": [ { "id": "0090023", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090023" } ], "weight": 0.0 }, { "disease_id": "DOID:0090119", "name": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "description": "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.", "url": "https://disease-ontology.org/term/DOID:0090119", "evidence": [ { "id": "0090119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090119" } ], "weight": 0.0 }, { "disease_id": "DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111503", "evidence": [ { "id": "0111503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111503" } ], "weight": 0.0 }, { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "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:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:1035", "name": "aggressive NK-cell leukemia", "description": "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.", "url": "https://disease-ontology.org/term/DOID:1035", "evidence": [ { "id": "1035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1035" } ], "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: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:10811", "name": "nasal cavity cancer", "description": "A respiratory system cancer that is located_in the nasal cavity.", "url": "https://disease-ontology.org/term/DOID:10811", "evidence": [ { "id": "10811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10811" } ], "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 }, { "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: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: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: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: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:1350", "name": "paranasal sinus benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:1350", "evidence": [ { "id": "1350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1350" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "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: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: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: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:2121", "name": "ectodermal dysplasia", "description": "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.", "url": "https://disease-ontology.org/term/DOID:2121", "evidence": [ { "id": "2121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2121" } ], "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: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: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:2626", "name": "choroid plexus papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:2626", "evidence": [ { "id": "2626", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2626" } ], "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:2729", "name": "dyskeratosis congenita", "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.", "url": "https://disease-ontology.org/term/DOID:2729", "evidence": [ { "id": "2729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2729" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "weight": 0.0 }, { "disease_id": "DOID:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles.", "url": "https://disease-ontology.org/term/DOID:2998", "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ], "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:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.", "url": "https://disease-ontology.org/term/DOID:3012", "evidence": [ { "id": "3012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3012" } ], "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: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:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.", "url": "https://disease-ontology.org/term/DOID:3114", "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ], "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:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ], "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: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: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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "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: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:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "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: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:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 }, { "disease_id": "DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).", "url": "https://disease-ontology.org/term/DOID:5744", "evidence": [ { "id": "5744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:5940", "name": "malignant peripheral nerve sheath tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5940", "evidence": [ { "id": "5940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ], "weight": 0.0 }, { "disease_id": "DOID:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:657", "evidence": [ { "id": "657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:657" } ], "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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.", "url": "https://disease-ontology.org/term/DOID:7575", "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ], "weight": 0.0 }, { "disease_id": "DOID:7614", "name": "meninges sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7614", "evidence": [ { "id": "7614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ], "weight": 0.0 }, { "disease_id": "DOID:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "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: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: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: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: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:9562", "name": "primary ciliary dyskinesia", "description": "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.", "url": "https://disease-ontology.org/term/DOID:9562", "evidence": [ { "id": "9562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9562" } ], "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 } ], "biological_process": [ { "name": "neuroblast differentiation", "id": "GO:0014016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014016", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "negative regulation of photoreceptor cell differentiation", "id": "GO:0046533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046533", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "regulation of apoptosis involved in tissue homeostasis", "id": "GO:0060785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060785", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "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": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "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": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "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": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "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": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "ectopic germ cell programmed cell death", "id": "GO:0035234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035234", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region 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"https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "TFIIH-class transcription factor complex binding", "id": "GO:0001097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001097", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "RNA polymerase II general transcription initiation factor binding", "id": "GO:0001091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001091", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8IMZ4", "url": "https://www.uniprot.org/uniprotkb/Q8IMZ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IMZ4-1" }, { "uniprot_canonical_ac": "Q8IN02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IN02", "url": "https://www.uniprot.org/uniprotkb/Q8IN02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 281, "chemical_mass": 31620.0, "gene_names": "Dph5;BcDNA.LD12153;BcDNA:LD12153;CG31289;CG5275;Dmel\\CG31289;Dmel_CG31289;Dph5;l(3)L4910", "protein_name": "diphthine methyl ester synthase", "disease": [ { "disease_id": "DOID:0070479", "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", "description": "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, 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"record_id": "Q8IN02-1" }, { "uniprot_canonical_ac": "Q8IND6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IND6", "url": "https://www.uniprot.org/uniprotkb/Q8IND6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 280, "chemical_mass": 31627.0, "gene_names": "NEST:bs01d08;CG31296;Dmel\\CG31296;Dmel_CG31296;NEST:bs01d08", "protein_name": "SCP domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8IND6", "url": "https://www.uniprot.org/uniprotkb/Q8IND6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8IND6", "url": 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"" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "Q8INH6", "url": "https://www.uniprot.org/uniprotkb/Q8INH6" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "Q8INH6", "url": "https://www.uniprot.org/uniprotkb/Q8INH6" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q8INH6", "url": "https://www.uniprot.org/uniprotkb/Q8INH6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8INH6", "url": "https://www.uniprot.org/uniprotkb/Q8INH6" } ], "pmid": "" }, { "name": "glutamyl aminopeptidase activity", "id": "GO:0004230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004230", "evidence": [ { "database": "UniProtKB", "id": "Q8INH6", "url": "https://www.uniprot.org/uniprotkb/Q8INH6" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q8INH6", "url": "https://www.uniprot.org/uniprotkb/Q8INH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8INH6-1" }, { "uniprot_canonical_ac": "Q8INJ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INJ3", "url": "https://www.uniprot.org/uniprotkb/Q8INJ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 34913.0, "gene_names": "GC2;CG12201;DmGC2;Dmel\\CG12201;Dmel_CG12201;GC2", "protein_name": "Mitochondrial glutamate carrier 2", "disease": [ { "disease_id": "DOID:0080440", "name": "developmental and epileptic encephalopathy 3", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0080440", "evidence": [ { "id": "0080440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080440" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 372, "chemical_mass": 38670.0, "gene_names": "CG33187;BcDNA:RE70963;CG16750;CG16751;CG33187;CG33188;CG33936;CG33937;CG3393;CG43675;Dmel\\CG43675;Dmel_CG43675;anon-85Da;drn", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8INP3-1" }, { "uniprot_canonical_ac": "Q8INX9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INX9", "url": "https://www.uniprot.org/uniprotkb/Q8INX9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 59, "chemical_mass": 6997.0, "gene_names": "Dmel\\CG31788;CG31788;Dmel\\CG31788;Dmel_CG31788", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8INX9-1" }, { "uniprot_canonical_ac": "Q8INY4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INY4", "url": "https://www.uniprot.org/uniprotkb/Q8INY4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 279, "chemical_mass": 30699.0, "gene_names": "Prosbeta5R2;31742;CG31742;Dmel\\CG31742;Dmel_CG31742;Prosbeta5R2;anon-AE003657.1;beta5R2", "protein_name": "Proteasome subunit beta", "disease": [ { "disease_id": "DOID:0050553", "name": "proteasome-associated autoinflammatory syndrome 1", "description": "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 48337.0, "gene_names": "Dmel\\CG31823;BG:DS00365.3;CG31823;CG7647;Dmel\\CG31823;Dmel_CG31823", "protein_name": "Carboxypeptidase", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8IP31", "url": "https://www.uniprot.org/uniprotkb/Q8IP31" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8IP31", "url": "https://www.uniprot.org/uniprotkb/Q8IP31" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type carboxypeptidase activity", "id": "GO:0004185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004185", "evidence": [ { "database": "UniProtKB", "id": "Q8IP31", "url": 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], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IP70-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Thr375", "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": 375, "start_aa": "Thr", "end_pos": 375, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr375", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q8IP70-1" }, { "uniprot_canonical_ac": "Q8IP77-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IP77", "url": "https://www.uniprot.org/uniprotkb/Q8IP77" } ], "common_name": "Fruit fly", "glygen_name": 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transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IPA1", "url": "https://www.uniprot.org/uniprotkb/Q8IPA1" } ], "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": "Q8IPA1", "url": "https://www.uniprot.org/uniprotkb/Q8IPA1" } ], "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": "Q8IPA1", "url": "https://www.uniprot.org/uniprotkb/Q8IPA1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IPA1-1" }, { "uniprot_canonical_ac": "Q8IPC5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPC5", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q8IPV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IPV2-1" }, { "uniprot_canonical_ac": "Q8IPW3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPW3", "url": "https://www.uniprot.org/uniprotkb/Q8IPW3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 204, "chemical_mass": 23680.0, "gene_names": "Nnf1b;CG31658;Dmel\\CG31658;Dmel_CG31658;Nnf1b;dmNnf1R-1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q8IPW3", "url": "https://www.uniprot.org/uniprotkb/Q8IPW3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034315", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "regulation of synaptic assembly at neuromuscular junction", "id": "GO:0008582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008582", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ0", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLQ0-1" }, { "uniprot_canonical_ac": "Q8MSW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MSW4", "url": "https://www.uniprot.org/uniprotkb/Q8MSW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 23978.0, "gene_names": "Mettl5;CG9666;Dmel\\CG9666;Dromel_CG9666_FBtr0074991_mORF;Mettl5", 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atrophy", "description": "", "url": "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:898", "name": "autosomal dominant 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 dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "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": 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"https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": 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"https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "regulation of response to drug", "id": "GO:2001023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001023", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": 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"Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "positive regulation of axon guidance", "id": "GO:1902669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902669", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "larval feeding behavior", "id": "GO:0030536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030536", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" }, { "name": "female germ-line stem cell population maintenance", "id": "GO:0036099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036099", "evidence": [ { "database": "UniProtKB", "id": "Q94533", "url": "https://www.uniprot.org/uniprotkb/Q94533" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q94533-1" }, { "uniprot_canonical_ac": "Q9I7C6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9I7C6", "url": "https://www.uniprot.org/uniprotkb/Q9I7C6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 102, "chemical_mass": 10673.0, "gene_names": "Cpr65Ax1;BcDNA:RE62456;CG18774;CG18777;CG34270;Cpr65Ax1;Cpr65Ax2;DmelCpr65Ax2;Dmel\\CG18777;Dmel\\CG34270;Dmel_CG18777;Dmel_CG34270", "protein_name": "", "disease": [], "molecular_function": [ { "name": "structural constituent of chitin-based larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "Q9I7C6", "url": "https://www.uniprot.org/uniprotkb/Q9I7C6" } ], "pmid": "" } ], "biological_process": [ { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9I7C6", "url": "https://www.uniprot.org/uniprotkb/Q9I7C6" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9I7C6", "url": "https://www.uniprot.org/uniprotkb/Q9I7C6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9I7C6-1" }, { "uniprot_canonical_ac": "Q9I7J1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9I7J1", "url": "https://www.uniprot.org/uniprotkb/Q9I7J1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 888, 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