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[], "record_id": "C0HKA1-1" }, { "uniprot_canonical_ac": "C0HKF7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "C0HKF7", "url": "https://www.uniprot.org/uniprotkb/C0HKF7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 265, "chemical_mass": 28469.0, "gene_names": "Jon99Cii;99Calpha;CG31034;CG7877;Dmel\\CG31034;Jon99B;Jon99C1;Jon99C2;Jon99Calphai;Jon99Calpha;Jon99Cbetaii;Jon99Cbeta;Jon99Ciii;Jon99Cii;Jon99C;JonC;SER1;SP122;Ser1;Ser5;Ser99Da;Serl", "protein_name": "Serine protease 1", "disease": [ { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "C0HKF7", "url": "https://www.uniprot.org/uniprotkb/C0HKF7" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "C0HKF7", "url": "https://www.uniprot.org/uniprotkb/C0HKF7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "C0HKF7", "url": "https://www.uniprot.org/uniprotkb/C0HKF7" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "C0HKF7", "url": 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"weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0061062", "name": "immunodeficiency 92", "description": "A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.", "url": "https://disease-ontology.org/term/DOID:0061062", "evidence": [ { "id": "0061062", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061062" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0111992", "name": "immunodeficiency 53", "description": "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.", "url": "https://disease-ontology.org/term/DOID:0111992", "evidence": [ { "id": "0111992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111992" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], 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"https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from 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"url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "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:12554", "name": "hemolytic-uremic syndrome", "description": 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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:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "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: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: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: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: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:891", "name": "progressive myoclonus epilepsy", "description": "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.", "url": "https://disease-ontology.org/term/DOID:891", "evidence": [ { "id": "891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:891" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology 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"name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "P29503", "url": "https://www.uniprot.org/uniprotkb/P29503" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P29503", "url": "https://www.uniprot.org/uniprotkb/P29503" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "P29503", "url": "https://www.uniprot.org/uniprotkb/P29503" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P29503", "url": "https://www.uniprot.org/uniprotkb/P29503" } ], "pmid": "" }, { 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polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14.", "url": "https://disease-ontology.org/term/DOID:0060985", "evidence": [ { "id": "0060985", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060985" } ], "weight": 0.0 }, { "disease_id": "DOID:0060987", "name": "preaxial polydactyly I", "description": "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0060987", "evidence": [ { "id": "0060987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060987" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0080171", "name": "esophageal atresia/tracheoesophageal fistula", "description": "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.", "url": "https://disease-ontology.org/term/DOID:0080171", "evidence": [ { "id": "0080171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080171" } ], "weight": 0.0 }, { "disease_id": "DOID:0080328", "name": "Culler-Jones syndrome", "description": "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. 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The condition shows incomplete penetrance and high variable expressivity.", "url": "https://disease-ontology.org/term/DOID:0080328", "evidence": [ { "id": "0080328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080328" } ], "weight": 0.0 }, { "disease_id": "DOID:0110873", "name": "holoprosencephaly 9", "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.", "url": "https://disease-ontology.org/term/DOID:0110873", "evidence": [ { "id": "0110873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110873" } ], "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:11193", "name": "syndactyly", "description": "A synostosis that results_in the fusion of two or more digits.", "url": "https://disease-ontology.org/term/DOID:11193", "evidence": [ { "id": "11193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11193" } ], "weight": 0.0 }, { "disease_id": "DOID:1148", "name": "polydactyly", "description": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.", "url": "https://disease-ontology.org/term/DOID:1148", "evidence": [ { "id": "1148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1148" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "disease_id": "DOID:13714", "name": "anodontia", "description": "A tooth disease that is characterized by complete absence of permanent teeth.", "url": "https://disease-ontology.org/term/DOID:13714", "evidence": [ { "id": "13714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13714" } ], "weight": 0.0 }, { "disease_id": "DOID:14761", "name": "Greig cephalopolysyndactyly syndrome", "description": "An acrocephalosyndactylia 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"https://disease-ontology.org/term/DOID:2512", "evidence": [ { "id": "2512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2512" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5593", "name": "gastric papillary adenocarcinoma", "description": "A papillary adenocarcinoma that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5593", "evidence": [ { "id": "5593", "database": 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"GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "cuticle pattern formation", "id": "GO:0035017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035017", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "labial disc development", "id": "GO:0035217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035217", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "genital disc anterior/posterior pattern formation", "id": 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"" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "protein 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"Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 149, "chemical_mass": 17022.0, "gene_names": "RpL27A;CG15442;Dmel\\CG15442;Dmel_CG15442;L15;M(2)24F-1;M(2)24F;M(2)Z;M(2)z;M(2L)z;M[[z]];Mz;M;Rp L27A;RpL27Aa;RpL27Ab;RpL27A;RpL27a2;RpL27a;anon-EST:Posey257;l(2)24EFh;l(2)24Fb;l(2)SH0840;l(2)SH2 0840;rpL27a", "protein_name": "Large ribosomal subunit protein uL15", "disease": [ { "disease_id": "DOID:0060036", "name": "intrinsic cardiomyopathy", "description": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.", "url": "https://disease-ontology.org/term/DOID:0060036", "evidence": [ { "id": "0060036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060036" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/P41092" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P41092", "url": "https://www.uniprot.org/uniprotkb/P41092" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P41092-1" }, { "uniprot_canonical_ac": "P08645-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 20863.0, "gene_names": "Rap1;BEST:GH18528;C-ras3;CG1956;D-Rap1;DRap1;DRap;Dmel\\CG1956;Dmel_CG1956;Dras3;Dras62B;E(faf);EC3-7;FCG-C;P08645;RAP1;RAP;Rap1;Rap;Ras3;RasIII;R;l(3)62Bf;l(3)R;rap1;ras 3;ras3", 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"id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "R7 cell fate commitment", "id": "GO:0007465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007465", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "torso signaling pathway", "id": "GO:0008293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008293", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "ommatidial rotation", "id": "GO:0016318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016318", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair organization", "id": "GO:0035317", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P08645", "url": "https://www.uniprot.org/uniprotkb/P08645" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P08645-1" }, { "uniprot_canonical_ac": "P00528-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 552, "chemical_mass": 63003.0, "gene_names": "Src64B;C-src1;CG7524;D-Src64B;D-src;DSRC64;DSrc64B;DSrc64;DSrc;Dm SRC1;DmHD-358;Dmel\\CG7524;Dmel_CG7524;Dsrc64B;Dsrc64;Dsrc;HD-358;MRE5;SRC 64B;SRC64B;SRC;Src1;Src64B;Src64b;Src64;Src;c-Src;c-src;dSrc64B;dSrc;dsrc;pSrc;src1;src64B;src64b;src64;src", "protein_name": "Tyrosine-protein kinase Src64B", "disease": [ { "disease_id": "DOID:0111937", "name": "immunodeficiency 22", "description": "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.", "url": "https://disease-ontology.org/term/DOID:0111937", "evidence": [ { "id": "0111937", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111937" } ], "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:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": 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It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "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: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:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "parallel actin filament bundle assembly", "id": "GO:0030046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030046", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "regulation of actin polymerization or depolymerization", "id": "GO:0008064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008064", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { 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"" }, { "name": "germline ring canal", "id": "GO:0045172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045172", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P00528-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Tyr434", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ] } ] } ], "record_id": "P00528-1" }, { "uniprot_canonical_ac": "P21750-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P21750", "url": "https://www.uniprot.org/uniprotkb/P21750" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 142, "chemical_mass": 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"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:3620", "name": "central nervous system cancer", "description": "A nervous system cancer that is located_in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:3620", "evidence": [ { "id": "3620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3620" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. 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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: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:9245", "name": "Alagille syndrome", "description": "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.", "url": "https://disease-ontology.org/term/DOID:9245", "evidence": [ { "id": "9245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9245" } ], "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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lateral inhibition", "id": "GO:0046331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046331", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "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": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "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": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "morphogenesis of an epithelial fold", "id": "GO:0060571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060571", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuroblast fate determination", "id": "GO:0007400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007400", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "retinal cell programmed cell death", "id": "GO:0046666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046666", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "myoblast development", "id": "GO:0048627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048627", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuron fate determination", "id": "GO:0048664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048664", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "glial cell fate determination", "id": "GO:0007403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007403", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "muscle cell fate determination", "id": "GO:0007521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007521", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000048", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "defense response to insect", "id": "GO:0002213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002213", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "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": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "epithelial cell type specification, open tracheal system", "id": "GO:0035153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035153", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "hemocyte proliferation", "id": "GO:0035172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035172", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of lamellocyte differentiation", "id": "GO:0035204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035204", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "eye-antennal disc development", "id": "GO:0035214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035214", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of crystal cell differentiation", "id": "GO:0042691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042691", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of compound eye photoreceptor development", "id": "GO:0045316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045316", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "R7 cell differentiation", "id": "GO:0045466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045466", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia morphogenesis", "id": "GO:0048803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048803", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030720", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "larval lymph gland hemopoiesis", "id": "GO:0035167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035167", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "imaginal disc-derived leg segmentation", "id": "GO:0036011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036011", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "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": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "crystal cell differentiation", "id": "GO:0042688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042688", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "compound eye retinal cell programmed cell death", "id": "GO:0046667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046667", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "wing disc dorsal/ventral pattern formation", "id": "GO:0048190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048190", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "germ-line stem-cell niche homeostasis", "id": "GO:0060250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060250", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in Malpighian tubule morphogenesis", "id": "GO:0061331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061331", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "Malpighian tubule tip cell differentiation", "id": "GO:0061382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061382", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of cardioblast cell fate specification", "id": "GO:0042686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042686", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "lamellocyte differentiation", "id": "GO:0035171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035171", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "R1/R6 cell differentiation", "id": "GO:0048052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048052", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "R3/R4 cell differentiation", "id": "GO:0048056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048056", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "epithelial cell migration", "id": "GO:0010631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010631", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "segmentation", "id": "GO:0035282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035282", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048732", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "tube morphogenesis", "id": "GO:0035239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035239", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of cell fate specification", "id": "GO:0042659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042659", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of plasma membrane bounded cell projection organization", "id": "GO:0120035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120035", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "larval development", "id": "GO:0002164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002164", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "formation of animal organ boundary", "id": "GO:0010160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010160", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P25843", "url": "https://www.uniprot.org/uniprotkb/P25843" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 126, "chemical_mass": 13723.0, "gene_names": "chic;7;CG9553;ChicE1;Chic;Chi;D88;Dmel\\CG9553;Dmel_CG9553;GH4;chic;chi;l(2)27/7;profilin;prof;sand", "protein_name": "Profilin", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle 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], "length": 191, "chemical_mass": 21403.0, "gene_names": "Cdc42;CDC-42;CDC42;CG12530;Cdc 42;Cdc-42;Cdc42Dm;Cdc42;D-CDC42;D-Cdc42;D-cdc42;DCDC42;DCdc42;Dcdc42;Dm Cdc42;DmCDC42;Dmcdc42;Dmel\\CG12530;Dmel_CG12530;P40793;cdc42", "protein_name": "Cdc42 homolog", "disease": [ { "disease_id": "DOID:0060669", "name": "cerebral cavernous malformation", "description": "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.", "url": "https://disease-ontology.org/term/DOID:0060669", "evidence": [ { "id": "0060669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060669" } ], "weight": 0.0 }, { "disease_id": "DOID:0060775", "name": "microvillus inclusion disease", "description": "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that 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"url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "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:225", "name": "syndrome", "description": "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.", "url": "https://disease-ontology.org/term/DOID:225", "evidence": [ { "id": "225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:225" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", 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"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: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:3495", "name": "extrahepatic bile duct adenocarcinoma", "description": "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3495", "evidence": [ { "id": "3495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3495" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that 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"name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axon midline choice point recognition", "id": "GO:0016199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016199", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dendrite development", "id": 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morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of synapse assembly", "id": "GO:0051963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cleavage furrow ingression", "id": "GO:0036090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036090", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "mesodermal cell migration", "id": "GO:0008078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008078", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", 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organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "negative regulation of lamellipodium assembly", "id": "GO:0010593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010593", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of axon guidance", "id": "GO:1902669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902669", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair site selection", "id": "GO:0035320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035320", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "embryonic anterior midgut (ectodermal) morphogenesis", "id": "GO:0048615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048615", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "nephrocyte filtration", "id": "GO:0097206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097206", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "negative regulation of myotube cell migration", "id": "GO:0110125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110125", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of adherens junction organization", "id": "GO:1903391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903391", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure, elongation of leading edge cells", "id": "GO:0007394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007394", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure, spreading of leading edge cells", "id": "GO:0007395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007395", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "tracheal outgrowth, open tracheal system", "id": "GO:0007426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007426", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "hemocyte development", "id": "GO:0007516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007516", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "head involution", "id": "GO:0008258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "encapsulation of foreign target", "id": "GO:0035010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035010", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure, amnioserosa morphology change", "id": "GO:0046664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046664", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of border follicle cell migration", "id": "GO:1903688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903688", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "somatic muscle attachment to chitin-based cuticle", "id": "GO:0160175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160175", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "GTPase activating 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"https://www.alliancegenome.org/disease/DOID:0080235" } ], "weight": 0.0 }, { "disease_id": "DOID:0112061", "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "description": "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1.", "url": "https://disease-ontology.org/term/DOID:0112061", "evidence": [ { "id": "0112061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112061" } ], "weight": 0.0 }, { "disease_id": "DOID:0112062", "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "description": "A 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"https://disease-ontology.org/term/DOID:0112064", "evidence": [ { "id": "0112064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112064" } ], "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:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ 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: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: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": 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"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: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:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is 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"https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "mesodermal cell migration", "id": "GO:0008078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008078", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "aggressive behavior", "id": "GO:0002118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002118", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "regulation of adherens junction organization", "id": "GO:1903391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903391", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "dorsal closure, elongation of leading edge cells", "id": "GO:0007394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007394", "evidence": [ { "database": "UniProtKB", "id": "P48554", "url": "https://www.uniprot.org/uniprotkb/P48554" } ], "pmid": "" }, { "name": "open tracheal system 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 275, "chemical_mass": 32635.0, "gene_names": "rost;CG9552;Dmel\\CG9552;Dmel_CG9552;rost", "protein_name": "Protein rolling stone", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O44252", "url": "https://www.uniprot.org/uniprotkb/O44252" } ], "pmid": "" } ], "biological_process": [ { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "O44252", "url": "https://www.uniprot.org/uniprotkb/O44252" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O44252-1" }, { "uniprot_canonical_ac": "Q9VIH7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060475", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ], "weight": 0.0 }, { "disease_id": "DOID:0080449", "name": "developmental and epileptic encephalopathy 16", "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0080449", "evidence": [ { "id": "0080449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080449" } ], "weight": 0.0 }, { "disease_id": "DOID:0110532", "name": 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has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111627", "evidence": [ { "id": "0111627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111627" } ], "weight": 0.0 }, { "disease_id": "DOID:0111645", "name": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "description": "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111645", "evidence": [ { "id": "0111645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111645" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "biological_process": [ { "name": "synaptic vesicle recycling via endosome", "id": "GO:0036466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036466", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "negative regulation of neurotransmitter secretion", "id": "GO:0046929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046929", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "negative regulation of synaptic vesicle recycling", "id": "GO:1903422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903422", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle endosomal processing", "id": "GO:0099532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099532", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Arg281", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Reduced binding to liposomes under low phosphatidylinositol 4,5-bisphosphate (PIP2) concentrations. Reduced binding to inositol 1,4,5-trisphosphate (IP3). In contrast to wild-type, expression only partially rescues the accumulation of sub-boutonic foci.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Little effect on binding to liposomes, phosphatidylinositol 4,5-bisphosphate and inositol 1,4,5-trisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Gly543", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "In sky-1; embryonic lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "21458671", "url": "https://glygen.org/publication/PubMed/21458671" } ] } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Arg79", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Loss of binding to liposomes containing phosphoinositides. In contrast to wild-type protein whose expression largely rescues mutant phenotypes, expression in mutant neurons only partially rescues the increase in synapse mobility and the abherent accumulation of large cisternal or endosomal-like structures in pre-synaptic terminals observed in mutants. In addition, the number of mutants displaying defective motor coordination, defective flight, hyperactivity, increased temperature sensitivity and seziures is increased compared to mutants expressing wild-type protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ] } ], "record_id": "Q9VIH7-1" }, { "uniprot_canonical_ac": "O76927-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 83, "chemical_mass": 9167.0, "gene_names": "RpS21;14;CG2986;Dmel\\CG2986;Dmel_CG2986;M(2)23B;RpS21;S21e;S21;l(2)03575;l(2)168/14;l(2)k16814;oho23B;oho23;rpS21", "protein_name": "Small ribosomal subunit protein eS21", "disease": [], "cellular_component": [ { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000461", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O76927-1" }, { "uniprot_canonical_ac": "P41126-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 218, "chemical_mass": 24951.0, "gene_names": "RpL13;Bbc1;CG4651;Dmbbc1;Dmel\\CG4651;Dmel_CG4651;L13e;L13;RPL13;Rp L13;RpL13;Rpl13;anon-EST:fe1D1;bbc1;rpL13", "protein_name": "Large ribosomal subunit protein eL13", "disease": [ { "disease_id": "DOID:0080027", "name": "spondyloepimetaphyseal dysplasia", "description": "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.", "url": "https://disease-ontology.org/term/DOID:0080027", "evidence": [ { "id": "0080027", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080027" } ], "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" }, { "name": "cytosolic large ribosomal subunit", "id": "GO:0022625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022625", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P41126", "url": "https://www.uniprot.org/uniprotkb/P41126" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P41126-1" }, { "uniprot_canonical_ac": "M9PFN0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PFN0", "url": "https://www.uniprot.org/uniprotkb/M9PFN0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 352, "chemical_mass": 40326.0, "gene_names": "hzg;24664944;CG5830;Dmel\\CG5830;hzg", "protein_name": "Phosphatase Herzog", "disease": [ { "disease_id": 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"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: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: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:5176", "name": "renal Wilms' tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5176", "evidence": [ { "id": "5176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5176" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells.", "url": "https://disease-ontology.org/term/DOID:707", "evidence": [ { "id": "707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:707" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the 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Does not cause accumulation of membranes at the base of the rhabdomeres or retinal degeneration.", "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" }, { "database": "PubMed", "id": "9685396", "url": "https://glygen.org/publication/PubMed/9685396" } ] } ] }, { "uniprot_canonical_ac": "O18334-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Thr26", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Does not affect interaction with Rich.", "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" }, { "database": "PubMed", "id": "21835342", "url": "https://glygen.org/publication/PubMed/21835342" } ] } ] }, { "uniprot_canonical_ac": "O18334-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Arg62", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Produces short bristles but does not alter the direction of their growth.", "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" }, { "database": "PubMed", "id": "10459009", "url": "https://glygen.org/publication/PubMed/10459009" } ] } ] }, { "uniprot_canonical_ac": "O18334-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Gln71", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Impairs maturation of ninaE and Rh3. 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"evidence": [ { "database": "UniProtKB", "id": "O18373", "url": "https://www.uniprot.org/uniprotkb/O18373" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O18373-1" }, { "uniprot_canonical_ac": "O18405-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O18405", "url": "https://www.uniprot.org/uniprotkb/O18405" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 270, "chemical_mass": 30546.0, "gene_names": "Surf4;CG6202;Dmel\\CG6202;SURF-4;Surf-4;Surf4", "protein_name": "Surfeit locus protein 4 homolog", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O18405", "url": "https://www.uniprot.org/uniprotkb/O18405" } ], "pmid": "" }, { "name": "endoplasmic 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"gene_names": "Mhc;Bsh;CG17927;DROMHC;Dm II;DmMHC;Dmel\\CG17927;DroMII;Ifm(2)2;Ifm(2)RU1;MHC;MRP;Mhc36B;Mhc;Mrp;MyHC;Myo6;Myosin;Myo;Nup;Sht;Stp;chr2L:16765388..16765564;chr2L:16781880..16782040;ifm(2)2;ifm(2)RU1;ifm(2)RU2;l(2)36Ae;l(2)M66;l(2)k10423;mMHC;mhc;sMHC", "protein_name": "Myosin heavy chain, muscle", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": 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"https://disease-ontology.org/term/DOID:0081322", "evidence": [ { "id": "0081322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090116", "name": "spondylocarpotarsal synostosis syndrome", "description": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.", "url": "https://disease-ontology.org/term/DOID:0090116", "evidence": [ { "id": "0090116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090116" } ], "weight": 0.0 }, { "disease_id": "DOID:0110108", "name": "atrial heart 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"https://disease-ontology.org/term/DOID:0110320", "evidence": [ { "id": "0110320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110320" } ], "weight": 0.0 }, { "disease_id": "DOID:0110453", "name": "dilated cardiomyopathy 1EE", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0110453", "evidence": [ { "id": "0110453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110453" } ], "weight": 0.0 }, { "disease_id": "DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110454", "evidence": [ { "id": "0110454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ], "weight": 0.0 }, { "disease_id": "DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0111268", "evidence": [ { "id": "0111268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111268" } ], "weight": 0.0 }, { "disease_id": "DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0111269", "evidence": [ { "id": "0111269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111269" } ], "weight": 0.0 }, { "disease_id": "DOID:0111596", "name": "distal arthrogryposis type 1", "description": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.", "url": "https://disease-ontology.org/term/DOID:0111596", "evidence": [ { "id": "0111596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ], "weight": 0.0 }, { "disease_id": "DOID:0111599", "name": "distal arthrogryposis type 2B", "description": "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.", "url": "https://disease-ontology.org/term/DOID:0111599", "evidence": [ { "id": "0111599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111599" } ], "weight": 0.0 }, { "disease_id": "DOID:0111602", "name": "distal arthrogryposis type 2B3", "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111602", "evidence": [ { "id": "0111602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111602" } ], "weight": 0.0 }, { "disease_id": "DOID:0111603", "name": "distal arthrogryposis type 7", "description": "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111603", "evidence": [ { "id": "0111603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111603" } ], "weight": 0.0 }, { "disease_id": "DOID:0111605", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111605", "evidence": [ { "id": "0111605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111605" } ], "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:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness 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"https://www.alliancegenome.org/disease/DOID:12930" } ], "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: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:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "weight": 0.0 }, { "disease_id": "DOID:2106", "name": "myotonia congenita", "description": "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.", "url": "https://disease-ontology.org/term/DOID:2106", "evidence": [ { "id": "2106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2106" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:384", "name": "Wolff-Parkinson-White syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:384", "evidence": [ { "id": "384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:384" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by 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"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:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 }, { "disease_id": "DOID:9955", "name": "hypoplastic left heart syndrome", "description": "A congenital heart disease 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}, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005863", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": 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"uniprot_canonical_ac": "P06604-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P06604", "url": "https://www.uniprot.org/uniprotkb/P06604" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 449, "chemical_mass": 49967.0, "gene_names": "alphaTub85E;2t;85E;ALPHA 85E;CG9476;DTA3;Dmel\\CG9476;TUBA85E;Tub1D;Tub;T;a2t;aTub85E;alpha-Tub85E;alpha-Tub;alpha-tubulin;alpha-tub;alpha2t;alpha2;alpha85E-tub;alpha85E;alphaTub2;alphaTub84E;alphaTub85E;alphaTub;alphatub85E", "protein_name": "Tubulin alpha-2 chain", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { 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"P06606-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 462, "chemical_mass": 51181.0, "gene_names": "alphaTub67C;4t;67C;ALPHA 67C;CG8308;D.m.ALPHA-67C;DTA2;Dmel\\CG8308;Fs(3)Kavar;Fs(3)Kav;Fs(3)Sz14;Fs(3)Sz22;Fs(3)Tomaj;Fs(3)Tom;Kavar;Tom;Tub1E;TubA67C;Tub;T;aTub67C;alpha-Tub67C;alpha-Tubulin67C;alpha-Tub;alpha-tub67C;alpha-tubulin[4];alpha-tubulin;alpha-tub;alpha4-tubulin;alpha4-t;alpha4Tub67C;alpha4t;alpha4;alpha67C;alphaTUB;alphaTub 67C;alphaTub4;alphaTub67C;alphaTub[67C];alphaTubulin;alphaTub;alphatub67C;alphatub;gamma-Tub;mum-tub67C;tub67c;tubulin;tub", "protein_name": "Tubulin alpha-4 chain", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality 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brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0112232", "evidence": [ { "id": "0112232", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112232" } ], "weight": 0.0 }, { "disease_id": "DOID:0112234", "name": "microlissencephaly", "description": "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.", "url": "https://disease-ontology.org/term/DOID:0112234", "evidence": [ { "id": "0112234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112234" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cortical microtubule", "id": "GO:0055028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055028", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "embryonic cleavage", "id": "GO:0040016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040016", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "female pronucleus assembly", "id": "GO:0035038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035038", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "nuclear division", "id": "GO:0000280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000280", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "sperm aster formation", "id": "GO:0035044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035044", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "pronuclear migration", "id": "GO:0035046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035046", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P06606-1" }, { "uniprot_canonical_ac": "P07663-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1218, "chemical_mass": 127364.0, "gene_names": "per;CG2647;Clk;Dmel\\CG2647;EG:155E2.4;PER;Per-2;Per;clk-6;dPER;dPer;dmper;dper;mel_per;per", "protein_name": "Period circadian protein", "disease": [ { "disease_id": "DOID:0050628", "name": "advanced sleep phase syndrome", "description": "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.", "url": "https://disease-ontology.org/term/DOID:0050628", "evidence": [ { "id": "0050628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050628" } ], "weight": 0.0 }, { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0110011", "name": "advanced sleep phase syndrome 1", "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110011", "evidence": [ { "id": "0110011", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110011" } ], "weight": 0.0 }, { "disease_id": "DOID:0110013", "name": "advanced sleep phase syndrome 3", "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23.", "url": "https://disease-ontology.org/term/DOID:0110013", "evidence": [ { "id": "0110013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110013" } ], "weight": 0.0 }, { 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"P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "entrainment of circadian clock", "id": "GO:0009649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009649", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian sleep/wake cycle", "id": "GO:0042745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042745", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "entrainment of circadian clock by photoperiod", "id": "GO:0043153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043153", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "rhythmic behavior", "id": "GO:0007622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007622", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "copulation", "id": "GO:0007620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007620", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "eclosion rhythm", "id": "GO:0008062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008062", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "courtship behavior", "id": "GO:0007619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007619", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "male courtship behavior, veined wing generated song production", "id": "GO:0045433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045433", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "transcription coregulator activity", 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"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": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "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": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "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": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "ectoderm and mesoderm interaction", "id": "GO:0007499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007499", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "asymmetric neuroblast division", "id": "GO:0055059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055059", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "regulation of neural precursor cell proliferation", "id": "GO:2000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000177", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "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": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "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": "P08044", "url": "https://www.uniprot.org/uniprotkb/P08044" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 189, "chemical_mass": 21594.0, "gene_names": "Ras85D;C-ras1;CG9375;D-Ras1;D-Ras;D-ras-1;D-ras1;DRAS1;DRas85D/Ras;DRas;Dm Ras1;Dmel\\CG9375;Dmras85D;Dras1;Dras85D;Dras;E(faf);E(sev)3C;EC3-3;EK3-4;P08646;RAS1;RAS85D;RAS;RTK;Ras 85D;Ras-1;Ras.85D;Ras1/RAs85D;Ras185D;Ras1;Ras85DNt;Ras85D;Ras85d;Ras85;RasI;RasV12;Ras[V12];Rasv12;Ras;S35097;Su(tor)3-2;dRAS1;dRas1;dRas85D;dRas;dras1;fs(3)05703;l(3)06677;l(3)s1747;p21[Ras1];ras 1;ras1;ras85B;ras85D;ras[V12];ras", "protein_name": "Ras-like protein 1", "disease": [ { "disease_id": "DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.", "url": "https://disease-ontology.org/term/DOID:0050458", "evidence": [ { "id": "0050458", "database": "AGR", "url": 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"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:0060233", "name": "cardiofaciocutaneous syndrome", "description": "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.", "url": "https://disease-ontology.org/term/DOID:0060233", "evidence": [ { "id": "0060233", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060233" } ], "weight": 0.0 }, { "disease_id": "DOID:0060581", "name": "Noonan syndrome 3", "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.", "url": "https://disease-ontology.org/term/DOID:0060581", "evidence": [ { "id": "0060581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060581" } ], "weight": 0.0 }, { "disease_id": "DOID:0060584", "name": "Noonan syndrome 6", "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0060584", "evidence": [ { "id": "0060584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060584" } ], "weight": 0.0 }, { "disease_id": "DOID:0060688", "name": "arteriovenous malformations of the brain", "description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:0060688", "evidence": [ { "id": "0060688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ], "weight": 0.0 }, { "disease_id": "DOID:0080365", "name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.", "url": "https://disease-ontology.org/term/DOID:0080365", "evidence": [ { "id": "0080365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0110117", "name": "autoimmune lymphoproliferative syndrome type 4", "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0110117", "evidence": [ { "id": "0110117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110117" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:0111359", "name": "large congenital melanocytic nevus", "description": "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.", "url": "https://disease-ontology.org/term/DOID:0111359", "evidence": [ { "id": "0111359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111359" } ], "weight": 0.0 }, { "disease_id": "DOID:0111461", "name": "cardiofaciocutaneous syndrome 2", "description": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0111461", "evidence": [ { "id": "0111461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111461" } ], "weight": 0.0 }, { "disease_id": "DOID:0111530", "name": "linear nevus sebaceous syndrome", "description": "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0111530", "evidence": [ { "id": "0111530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111530" } ], "weight": 0.0 }, { "disease_id": "DOID:0111705", "name": "oculoectodermal syndrome", "description": "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0111705", "evidence": [ { "id": "0111705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111705" } ], "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 }, { 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"id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder 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and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ 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:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ], "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: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: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:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "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: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:3078", "name": "anaplastic astrocytoma", "description": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.", "url": "https://disease-ontology.org/term/DOID:3078", "evidence": [ { "id": "3078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3078" } ], "weight": 0.0 }, { "disease_id": "DOID:3165", "name": "skin benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:3165", "evidence": [ { "id": "3165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3165" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal 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"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: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: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:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "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:4927", "name": "Klatskin's tumor", "description": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.", "url": "https://disease-ontology.org/term/DOID:4927", "evidence": [ { "id": "4927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4927" } ], "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: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:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": 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cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:686", "evidence": [ { "id": "686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:686" } ], "weight": 0.0 }, { "disease_id": "DOID:7235", "name": "pancreatic mucinous cystadenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7235", "evidence": [ { "id": "7235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7235" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular 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:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8683" } ], "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:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "P12982", "url": "https://www.uniprot.org/uniprotkb/P12982" } ], "pmid": "" }, { "name": "myosin phosphatase activity", "id": "GO:0017018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017018", "evidence": [ { "database": "UniProtKB", "id": "P12982", "url": "https://www.uniprot.org/uniprotkb/P12982" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P12982-1" }, { "uniprot_canonical_ac": "P15619-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P15619", "url": "https://www.uniprot.org/uniprotkb/P15619" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 869, "chemical_mass": 95314.0, "gene_names": "wdn;CG1454;Dmel\\CG1454;Sry-c;Sryc;pqp;sry h-1;sry h-l;sry-c;sry-h1;wdn", "protein_name": "Serendipity locus 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"Jon99Ci;143341_at;99Calpha;CG17951;CG31039;Dmel\\CG31039;JON99CI;Jon99B;Jon99C1;Jon99C2;Jon99Calphai;Jon99Calpha;Jon99Cbetai;Jon99Cbeta;Jon99Ci;Jon99C;JonC;SER3;SP150;Ser3;Ser99Dc;ser99Dc", "protein_name": "Serine protease 3", "disease": [], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P17207", "url": "https://www.uniprot.org/uniprotkb/P17207" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P17207", "url": "https://www.uniprot.org/uniprotkb/P17207" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "P17207", "url": "https://www.uniprot.org/uniprotkb/P17207" } ], "pmid": "" } ], 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 260, "chemical_mass": 28830.0, "gene_names": "PCNA;53/13;CG9193;DmPCNA1;DmPCNA;Dmel\\CG9193;MUS209;Mus209;PCNA/mus209;PCNA1;PCNA;Pcna;dPCNA;l(2)02448;l(2)56Fa;l(2)56F;l(2)s1534;mus 209;mus209;pcna", "protein_name": "DNA sliding clamp PCNA", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:0081385", "name": "ataxia-telangiectasia-like disorder 2", "description": "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0081385", "evidence": [ { "id": "0081385", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081385" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "regulation of synapse structure or activity", "id": "GO:0050803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050803", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "regulation of calcium ion-dependent exocytosis", "id": "GO:0017158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017158", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "calcium ion-regulated exocytosis of neurotransmitter", "id": "GO:0048791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048791", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "secretion of lysosomal enzymes", "id": "GO:0033299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033299", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "clathrin-dependent synaptic vesicle endocytosis", "id": "GO:0150007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150007", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "calcium-dependent activation of synaptic vesicle fusion", "id": "GO:0099502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099502", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "larval locomotory behavior", "id": "GO:0008345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008345", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "liquid clearance, open tracheal system", "id": "GO:0035002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035002", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "regulation of neuromuscular synaptic transmission", "id": "GO:1900073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900073", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "exocytic vesicle", "id": "GO:0070382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070382", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "dense core granule", "id": "GO:0031045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031045", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "calcium ion sensor activity", "id": "GO:0061891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061891", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P21521", "url": "https://www.uniprot.org/uniprotkb/P21521" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P21521-1" }, { "uniprot_canonical_ac": "P21914-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 297, "chemical_mass": 33741.0, "gene_names": "SdhB;CG3283;CII-SDHB;DHSB;Dmel\\CG3283;Ip;SDH-B;SDH-IP;SDH-Ip;SDHb;SDH;SdhB;Sdhb;sdhB", "protein_name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "disease": [ { "disease_id": "DOID:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.", "url": "https://disease-ontology.org/term/DOID:0050771", "evidence": [ { "id": "0050771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050771" } ], "weight": 0.0 }, { "disease_id": "DOID:0050773", "name": "paraganglioma", "description": "A pheochromocytoma that arises in extraadrenal sympathetic ganglia.", "url": "https://disease-ontology.org/term/DOID:0050773", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ], "weight": 0.0 }, { "disease_id": "DOID:0060537", "name": "mitochondrial complex II deficiency", "description": "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060537", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ], "weight": 0.0 }, { "disease_id": "DOID:0061219", "name": "pheochromocytoma/paraganglioma syndrome 4", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0061219", "evidence": [ { "id": "0061219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061219" } ], "weight": 0.0 }, { "disease_id": "DOID:0080533", "name": "Carney-Stratakis syndrome", "description": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.", "url": "https://disease-ontology.org/term/DOID:0080533", "evidence": [ { "id": "0080533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080533" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "respiratory chain complex II (succinate dehydrogenase)", "id": "GO:0045273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045273", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "mitochondrial electron transport, succinate to ubiquinone", "id": "GO:0006121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006121", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "3 iron, 4 sulfur cluster binding", "id": "GO:0051538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051538", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "succinate dehydrogenase (quinone) activity", "id": "GO:0008177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008177", "evidence": [ { "database": "UniProtKB", "id": "P21914", "url": "https://www.uniprot.org/uniprotkb/P21914" } ], "pmid": "" }, { "name": "ubiquinone binding", "id": "GO:0048039", "url": 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partitioning by pair rule gene", "id": "GO:0007366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007366", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "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": "P23803", "url": "https://www.uniprot.org/uniprotkb/P23803" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23803", "url": 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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: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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P25007", "url": "https://www.uniprot.org/uniprotkb/P25007" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P25007", "url": "https://www.uniprot.org/uniprotkb/P25007" } ], "pmid": "" } ], "molecular_function": [ { "name": "cyclosporin A binding", "id": "GO:0016018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016018", "evidence": [ { "database": "UniProtKB", "id": "P25007", "url": "https://www.uniprot.org/uniprotkb/P25007" } ], "pmid": "" }, { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "P25007", "url": "https://www.uniprot.org/uniprotkb/P25007" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P25007-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25007", "url": "https://www.uniprot.org/uniprotkb/P25007" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P25007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25007" } ] } ] } ], "record_id": "P25007-1" }, { "uniprot_canonical_ac": "P25008-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 267, "chemical_mass": 31292.0, "gene_names": "CycC;CCNC;CG1C_DROME;CG7281;CLND;CYCC;Cln3;Cyc-C;CycC;DmcycC;Dmel\\CG7281;SRB11;cycC;cyclinC;dCycC;dTRAP33", "protein_name": "Cyclin-C", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "pmid": "" }, { "name": "CKM complex", "id": "GO:1990508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990508", "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "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": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "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": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "pmid": "" }, { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "pmid": "" }, { "name": "sex comb development", "id": "GO:0045498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045498", "evidence": [ { "database": "UniProtKB", "id": "P25008", "url": 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"database": "UniProtKB", "id": "P25008", "url": "https://www.uniprot.org/uniprotkb/P25008" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P25008-1" }, { "uniprot_canonical_ac": "P25171-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P25171", "url": "https://www.uniprot.org/uniprotkb/P25171" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 547, "chemical_mass": 58851.0, "gene_names": "Rcc1;BJ1;Bj1;CG10480;CG18640 (Bj1);Dmel\\CG10480;RCC1;RanGEF;Rcc1;bj1;dRCC1;inxs;sdt", "protein_name": "Regulator of chromosome condensation", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P25171", "url": "https://www.uniprot.org/uniprotkb/P25171" } ], "pmid": "" }, { 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"cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P36241", "url": "https://www.uniprot.org/uniprotkb/P36241" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P36241-1" }, { "uniprot_canonical_ac": "P36975-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P36975", "url": "https://www.uniprot.org/uniprotkb/P36975" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 212, "chemical_mass": 23685.0, "gene_names": "Snap25;CG17676;CG17884;CG40452;Dmel\\CG40452;SNAP-25;SNAP25;Snap25;dSNAP-25;dSnap25;snap-25;snap25;snp25", "protein_name": "Synaptosomal-associated protein 25", "disease": [ { "disease_id": "DOID:0110683", "name": "developmental and epileptic encephalopathy 117", "description": "A developmental and 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"evidence": [ { "id": "0111522", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111522" } ], "weight": 0.0 }, { "disease_id": "DOID:10787", "name": "premature menopause", "description": "An ovarian dysfunction that is the loss of normal ovarian function before age 40.", "url": "https://disease-ontology.org/term/DOID:10787", "evidence": [ { "id": "10787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10787" } ], "weight": 0.0 }, { "disease_id": "DOID:12558", "name": "chronic progressive external ophthalmoplegia", "description": "A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions.", "url": "https://disease-ontology.org/term/DOID:12558", "evidence": [ { "id": "12558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12558" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", 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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: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "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: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: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:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sperm mitochondrion organization", "id": "GO:0030382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030382", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "DNA replication proofreading", "id": "GO:0045004", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003887", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "3'-5'-DNA exonuclease activity", "id": "GO:0008296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008296", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005760", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q27607-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Gln1009", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in the death of most mutants at the third instar stage. Only two percent survive to the pupal stage but die shortly afterwards. Five day old larvae display a severe decrease in mtDNA levels and a significant reduction in body weight.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "26554610", "url": "https://glygen.org/publication/PubMed/26554610" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "His1038", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in larval lethality at the third instar stage. Larvae 5 days old, display a severe decrease in mtDNA levels and a significant reduction in body weight. Does not result in linear deletions of mtDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "26554610", "url": "https://glygen.org/publication/PubMed/26554610" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Asp263", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in pupal lethality. Only half of the mutants survive to the pupal stage but die shortly afterwards. Larvae display an accumulation of point mutations and linear deletions of mtDNA. No decrease in larvae body weight. Unable to rescue the defective clearance of paternal mitochondrial nucleoids in mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "26554610", "url": "https://glygen.org/publication/PubMed/26554610" }, { "database": "PubMed", "id": "28318978", "url": "https://glygen.org/publication/PubMed/28318978" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Trp576", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Severe reduction in polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "15537632", "url": "https://glygen.org/publication/PubMed/15537632" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Glu595", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of mitochondrial DNA which disrupts mitochondrial morphology; larval brains are smaller due to defective cell proliferation leading to death at the pupal stage. Leads to higher mitochondrial density in proximal nerves and muscles as well as increased flux of bidirectional mitochondrial axonal transport; when associated with 1085-S--S-1145 DEL.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "11917141", "url": "https://glygen.org/publication/PubMed/11917141" }, { "database": "PubMed", "id": "19924234", "url": "https://glygen.org/publication/PubMed/19924234" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Glu813", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Partially rescues the defective clearance of paternal mitochondrial nucleoids in mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "28318978", "url": "https://glygen.org/publication/PubMed/28318978" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Tyr873", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in larval lethality at the third instar stage. Displays increased exonuclease activity and shows replicative stalling, particularly at dATP insertion sites. Defective replication and synthesis results in decreased levels of mtDNA but does not result in multiple linear deletions in mtDNA. No effect on DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "28430993", "url": "https://glygen.org/publication/PubMed/28430993" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "Severe defects in mitochondrial DNA (mtDNA) replication and synthesis results in larval lethality at the third instar stage. Exonuclease activity is increased, and displays replicative stalling, particularly at dATP insertion sites, and decreased DNA binding. Defective replication and synthesis results in decreased levels of mtDNA but does not result in multiple linear deletions in mtDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "28430993", "url": "https://glygen.org/publication/PubMed/28430993" } ] } ] } ], "record_id": "Q27607-1" }, { "uniprot_canonical_ac": "Q9VVJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 19881.0, "gene_names": "Sep15;BcDNA:SD16138;CG7484;Dmel\\CG7484;Dmel_CG7484;Prise 8;Sep15", "protein_name": "Selenoprotein F", "disease": [], "molecular_function": [ { "name": "glutathione disulfide oxidoreductase activity", "id": "GO:0015038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015038", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" } ], "biological_process": [ { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "'de novo' post-translational protein folding", "id": "GO:0051084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051084", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVJ7-1" }, { "uniprot_canonical_ac": "Q9VJ62-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 564, "chemical_mass": 62270.0, "gene_names": "Dmel\\CG10341;CG10341;Dmel\\CG10341;Dmel_CG10341", "protein_name": "H/ACA ribonucleoprotein complex non-core subunit NAF1", "disease": [ { "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" }, { "name": "sno(s)RNA-containing ribonucleoprotein complex", "id": "GO:0005732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005732", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" } ], "biological_process": [ { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" }, { "name": "pseudouridine synthesis", "id": "GO:0001522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001522", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" }, { "name": "box H/ACA snoRNP assembly", "id": "GO:0000493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000493", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" }, { "name": "RNA stabilization", "id": "GO:0043489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043489", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { 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"url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "negative regulation of lamellocyte differentiation", "id": "GO:0035204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035204", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal formation", "id": "GO:0007301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007301", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "syncytial embryo cellularization", "id": "GO:0110069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110069", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal formation, actin assembly", "id": "GO:0008302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008302", "evidence": [ { 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"name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "endomembrane system", "id": 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"pmid": "" }, { "name": "mating pheromone secretion", "id": "GO:0071834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071834", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y9" } ], "pmid": "" } ], "molecular_function": [ { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V8Y9-1" }, { "uniprot_canonical_ac": "Q9VI75-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 468, "chemical_mass": 49867.0, "gene_names": "lap;AP180;BcDNA:GM10787;CG2520;Dmel\\CG2520;Dmel_CG2520;EP(3)3060;EP3060;LAP;Lap;dAP-3;l(3)neo34;lap/AP180;lap;sig", "protein_name": "Phosphatidylinositol-binding clathrin assembly protein LAP", "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 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: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: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 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"GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin heavy chain binding", "id": "GO:0032050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032050", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": 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"uniprot_canonical_ac": "Q9NFU0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 684, "chemical_mass": 76076.0, "gene_names": "Fmr1;AT24755;BcDNA:GM08679;CG6203;DFMRP;DFmr1;Dfmr;Dmel\\CG6203;Dmel_CG6203;EP(3)3517;FMR1;FMRP;FMRp;FMR;FXR;Fmr1;Fmrp;cg6203;dFMR1;dFMRP;dFMR;dFXR1;dFXRP;dFXR;dFmr1;dFmrp;dfmr1;dfmr;dfxr1;dfxr;dmfr1;fmr1;fmr", "protein_name": "Fragile X messenger ribonucleoprotein 1 homolog", "disease": [ { "disease_id": "DOID:0050879", "name": "fragile X-associated tremor/ataxia syndrome", "description": "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function 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cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "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": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "pmid": "" }, { "name": "post-embryonic digestive tract morphogenesis", "id": "GO:0048621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048621", "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "pmid": "" }, { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "pmid": "" }, { "name": "terminal button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "pmid": "" }, { "name": "habituation", "id": "GO:0046959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046959", "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042688", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "negative regulation of crystal cell differentiation", "id": "GO:0042690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042690", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "amnioserosa maintenance", "id": "GO:0046665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046665", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VHA0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VHA0" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Glu816", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "No effect on function. 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Moderate loss of ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Gly836", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Complete loss of function. Complete loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Met846", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "No effect on function. Shows self- and ph-p binding activity comparable to wild-type; when associated with G-816 and R-860.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "848", "end_pos": "848", "site_lbl": "Met848", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "", "comment": "Complete loss of function. Significant loss of self-binding activity. Partial loss of ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Met851", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Complete loss of function. Complete loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Lys854", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Partial loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Lys860", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Complete loss of function. Partial loss of self-binding activity. Complete loss of ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on function. Shows self- and ph-p binding activity comparable to wild-type; when associated with G-816 and V-846.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] } ], "record_id": "Q9VHA0-1" }, { "uniprot_canonical_ac": "Q8MLY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 208, "chemical_mass": 23759.0, "gene_names": "RpS8;BcDNA:RH06886;BcDNA:SD17528;CG7808;Dmel\\CG7808;Dmel_CG7808;RPS8;Rp S8;RpS8;Rps8;S8e;S8;anon-EST:Liang-1.56;anon-EST:fe1A2;chr3R:25688477..25688608;clone 1.56", "protein_name": "Small ribosomal subunit protein eS8", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLY8-1" }, { "uniprot_canonical_ac": "Q8IH24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 204, "chemical_mass": 23531.0, "gene_names": "MED31;BcDNA:GM28912;CG1057;Dmel\\CG1057;Dmel_CG1057;MED31;Med31;Trap18;dSOH1;dTRAP18;med31;p36", "protein_name": "Mediator of RNA polymerase II transcription subunit 31", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "core mediator complex", "id": "GO:0070847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070847", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "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": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "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": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "anterior/posterior axis specification, embryo", "id": "GO:0008595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008595", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IH24-1" }, { "uniprot_canonical_ac": "Q9V9S7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1866, "chemical_mass": 198298.0, "gene_names": "RhoGAP100F;1976;CG1976;DSyd-1;DSyd1;DSyd;Dmel\\CG1976;Dmel_CG1976;Dsyd-1;RHOGAP100F;RhoGAP100F;Syd-1;Syd1;dSyd-1;dsyd-1;syd-1;syd1", "protein_name": "Rho GTPase-activating protein 100F", "disease": [], "biological_process": [ { "name": "cytoskeletal matrix organization at active zone", "id": "GO:0048789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048789", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "maintenance of presynaptic active zone structure", "id": "GO:0048790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048790", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "presynaptic active zone organization", "id": "GO:1990709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990709", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "regulation of Ras protein signal transduction", "id": "GO:0046578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046578", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "axon extension involved in axon guidance", "id": "GO:0048846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048846", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "R7 cell development", "id": "GO:0045467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045467", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "synaptic vesicle localization", "id": "GO:0097479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097479", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 346, "chemical_mass": 39895.0, "gene_names": "Stlk;BcDNA:LD05623;CG40293;DmSTRADalpha;Dmel\\CG40293;Dmel_CG40293;LD05623;STRADalpha;Stlk;stlk", "protein_name": "STE20-related kinase adapter protein stlk", "disease": [ { "disease_id": "DOID:0070511", "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "description": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3.", "url": "https://disease-ontology.org/term/DOID:0070511", "evidence": [ { "id": "0070511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070511" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is 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[ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 411, "chemical_mass": 46460.0, "gene_names": "Lis-1;CG8440;D-Lis1;DLIS-1;DLIS1;DLis-1;DLis1;Dlis-1;Dlis1;DmLIS1;Dmel\\CG8440;Dmel_CG8440;LIS-1;Lis 1;Lis-1;Lis1;Lis;dLis1;l(2)k13209;l(2R)W8;lis-1;lis1;n(2)k11702", "protein_name": "Lissencephaly-1 homolog", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "disease_id": "DOID:0060469", "name": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061883", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "oocyte nucleus migration involved in oocyte dorsal/ventral axis specification", "id": "GO:0007312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007312", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "mushroom 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"key;CG16910;DmIKK-gamma;DmIKKgamma;Dmel\\CG16910;Dmel_CG16910;Dmikkgamma;IKK-gamma;IKKGAMMA;IKKG;IKK[[gamma]];IKKgamma;IKKg;IKK;Ikkgammabeta;KEY;Kenny;Key;dIKK-gamma;dIKKgamma;dIKK;dmIKKgamma;key", "protein_name": "NF-kappa-B essential modulator", "disease": [ { "disease_id": "DOID:0060203", "name": "amyotrophic lateral sclerosis type 12", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.", "url": "https://disease-ontology.org/term/DOID:0060203", "evidence": [ { "id": "0060203", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060203" } ], "weight": 0.0 }, { "disease_id": "DOID:0081078", "name": "ectodermal dysplasia and immunodeficiency 1", "description": "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the 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combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0112003", "evidence": [ { "id": "0112003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112003" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "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:12305", "name": "Bloch-Sulzberger syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:12305", "evidence": [ { "id": "12305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12305" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 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"https://www.alliancegenome.org/disease/DOID:5408" } ], "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: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": 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"acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "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:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of stem cell proliferation", "id": "GO:2000647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000647", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "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": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "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": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "positive regulation of antibacterial peptide biosynthetic process", "id": "GO:0006963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006963", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "peptidoglycan recognition protein signaling pathway", "id": "GO:0061057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061057", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "K63-linked polyubiquitin modification-dependent protein binding", "id": "GO:0070530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070530", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9GYV5-1" }, { "uniprot_canonical_ac": "Q9U1I1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U1I1", "url": "https://www.uniprot.org/uniprotkb/Q9U1I1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 785, "chemical_mass": 86608.0, "gene_names": "esn;CG12833;CG12835;CG43722;Dm_2R:11728;Dmel\\CG43722;Dmel_CG43722;Esn;esn", 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060764", "name": "autosomal recessive Robinow syndrome", "description": "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0060764", "evidence": [ { "id": "0060764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060764" } ], "weight": 0.0 }, { "disease_id": "DOID:0111448", "name": "progressive myoclonus epilepsy 1B", "description": "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111448", "evidence": [ { "id": "0111448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111448" } ], "weight": 0.0 }, { "disease_id": "DOID:0111754", "name": "Leber plus disease", "description": "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.", "url": "https://disease-ontology.org/term/DOID:0111754", "evidence": [ { "id": "0111754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111754" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. 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"biological_process": [ { "name": "dendrite self-avoidance", "id": "GO:0070593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070593", "evidence": [ { "database": "UniProtKB", "id": "Q9U1I1", "url": "https://www.uniprot.org/uniprotkb/Q9U1I1" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9U1I1", "url": "https://www.uniprot.org/uniprotkb/Q9U1I1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9U1I1-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Thr431", "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": 431, "start_aa": "Thr", "end_pos": 431, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr431", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9U1I1-1" }, { "uniprot_canonical_ac": "Q9V3C1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 21240.0, "gene_names": "Vhl;BcDNA:RH61560;CG13221;DVhl;Dmel\\CG13221;Dmel_CG13221;Dvhl;VHL;Vhl;d-VHL;d-vhl;dVHL;dmVHL;vhl", "protein_name": "Protein Vhl", "disease": [ { "disease_id": "DOID:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.", "url": "https://disease-ontology.org/term/DOID:0050771", "evidence": [ { "id": "0050771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050771" } ], "weight": 0.0 }, { "disease_id": "DOID:0060474", "name": "familial erythrocytosis 2", "description": "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060474", "evidence": [ { "id": "0060474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060474" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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: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: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:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "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": "VCB complex", "id": "GO:0030891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030891", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "regulation of cellular response to hypoxia", "id": "GO:1900037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900037", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "protein export from 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"regulation of protein processing", "id": "GO:0070613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070613", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "signal transduction", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "regulation of multicellular organismal process", "id": "GO:0051239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051239", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q8T0S6", "url": "https://www.uniprot.org/uniprotkb/Q8T0S6" } ], "pmid": "" }, { "name": "ATP binding", 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"url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "RNA polymerase transcription factor SL1 complex", "id": "GO:0005668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005668", "evidence": [ { "database": "UniProtKB", "id": "Q9VH20", "url": "https://www.uniprot.org/uniprotkb/Q9VH20" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VH20", "url": "https://www.uniprot.org/uniprotkb/Q9VH20" } ], "pmid": "" }, { "name": "RNA polymerase I core factor complex", "id": "GO:0070860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070860", "evidence": [ { "database": "UniProtKB", "id": "Q9VH20", "url": "https://www.uniprot.org/uniprotkb/Q9VH20" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion 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"https://www.uniprot.org/uniprotkb/Q9VH20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH20-1" }, { "uniprot_canonical_ac": "Q9VET0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VET0", "url": "https://www.uniprot.org/uniprotkb/Q9VET0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 102, "chemical_mass": 11465.0, "gene_names": "NPF;CG10342;Dm-NPF;DmNPF;Dmel\\CG10342;Dmel_CG10342;Drm-NPF;NP-PP;NPF-A1;NPF-A2;NPF/NPY;NPF89D3;NPF;NPY;Npf;dNPF;dnpf;npf;sNPF", "protein_name": "Neuropeptide F", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": 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hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "Q9VET0", "url": "https://www.uniprot.org/uniprotkb/Q9VET0" } ], "pmid": "" }, { "name": "neuropeptide F receptor binding", "id": "GO:0071859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071859", "evidence": [ { "database": "UniProtKB", "id": "Q9VET0", "url": "https://www.uniprot.org/uniprotkb/Q9VET0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VET0-1" }, { "uniprot_canonical_ac": "Q9V813-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 289, "chemical_mass": 32018.0, "gene_names": "Mtap;CG4802;Dmel\\CG4802;Dmel_CG4802;MTAP;Mtap", "protein_name": "S-methyl-5'-thioadenosine phosphorylase", "disease": [ { "disease_id": "DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract.", "url": "https://disease-ontology.org/term/DOID:0050625", "evidence": [ { "id": "0050625", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ], "weight": 0.0 }, { "disease_id": "DOID:0080664", "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "description": "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.", "url": "https://disease-ontology.org/term/DOID:0080664", "evidence": [ { "id": "0080664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080664" } ], "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:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "S-methyl-5-thioadenosine phosphorylase activity", "id": "GO:0017061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017061", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" } ], "biological_process": [ { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "L-methionine salvage from methylthioadenosine", "id": "GO:0019509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019509", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V813-1" }, { "uniprot_canonical_ac": "Q24151-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 761, "chemical_mass": 86415.0, "gene_names": "Stat92E;CG4257;D-STAT;D-Stat;D-stat/stat92E;D-stat;DRODSRC;DSRC;DSTAT;DmSTAT;Dmel\\CG4257;Dmel_CG4257;Dstat 92E;Dstat92E;Dstat;Dst;MARE;SD-stat;STAT 92E;STAT92E;STAT92e;STAT92;STAT;Sta92E;Stat1alpha-like;Stat92E;Stat92e;Stat92;Stat9E;Stat;d-STAT;dSTAT92E/marelle;dSTAT92E;dSTAT;dstat;l(3)06346;l(3)j6C8;marelle;mrL;mrl stat92E;mrl;pSTAT92E;pSTAT;stat92E;stat92e;stat92;stat[92E];stat", "protein_name": "Signal transducer and transcription activator", "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: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: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: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:0060478", "name": "Zika fever", "description": "A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.", "url": "https://disease-ontology.org/term/DOID:0060478", "evidence": [ { "id": "0060478", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060478" } ], "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: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: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: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:0080836", "name": "growth hormone insensitivity syndrome with immune dysregulation 1", "description": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080836", "evidence": [ { "id": "0080836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080836" } ], "weight": 0.0 }, { "disease_id": "DOID:0080837", "name": "growth hormone insensitivity syndrome with immune dysregulation 2", "description": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080837", "evidence": [ { "id": "0080837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080837" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:0111975", "name": "immunodeficiency 44", "description": "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.", "url": "https://disease-ontology.org/term/DOID:0111975", "evidence": [ { "id": "0111975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111975" } ], "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:10966", "name": "lipoid nephrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:10966", "evidence": [ { "id": "10966", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10966" } ], "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: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:1394", "name": "urinary schistosomiasis", "description": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.", "url": "https://disease-ontology.org/term/DOID:1394", "evidence": [ { "id": "1394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1394" } ], "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:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1996", "name": "rectum adenocarcinoma", "description": "A rectum cancer that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:1996", "evidence": [ { "id": "1996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1996" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:3261", "name": "autosomal dominant hyper-IgE syndrome 1 with recurrent infections", "description": "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:3261", "evidence": [ { "id": "3261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3261" } ], "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:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related 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"evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": 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"" }, { "name": "primary sex determination", "id": "GO:0007538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007538", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "cellular response to X-ray", "id": "GO:0071481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071481", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "positive regulation of heterochromatin formation", "id": "GO:0031453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031453", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "larval somatic muscle development", "id": "GO:0007526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007526", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "follicle cell of egg chamber stalk formation", "id": "GO:0030713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030713", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "oocyte localization involved in germarium-derived egg chamber 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The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "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:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0111046", "name": "platelet-type bleeding disorder 10", "description": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0111046", "evidence": [ { "id": "0111046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111046" } ], "weight": 0.0 }, { "disease_id": "DOID:0111444", "name": "progressive myoclonus epilepsy 4", "description": "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.", "url": "https://disease-ontology.org/term/DOID:0111444", "evidence": [ { "id": "0111444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111444" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10772", "name": "thrombotic thrombocytopenic purpura", "description": "", "url": "https://disease-ontology.org/term/DOID:10772", "evidence": [ { "id": "10772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10772" } ], "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: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:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "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:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "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:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "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: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: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: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: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:891", "name": "progressive myoclonus epilepsy", "description": "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.", "url": "https://disease-ontology.org/term/DOID:891", "evidence": [ { "id": "891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:891" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": 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"uniprot_canonical_ac": "Q9VDD3-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Asn440", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 440, "start_aa": "Asn", "end_pos": 440, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn440", "evidence": [ { "id": "Q9VDD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9VDD3-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asn66", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "Q9VDD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3#ptm_processing" } ] } ] } ], "record_id": "Q9VDD3-1" }, { "uniprot_canonical_ac": "Q03720-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1200, "chemical_mass": 133102.0, "gene_names": "slo;BcDNA:GH10751;CG10693;Dmel\\CG10693;Dmel_CG10693;Dslo;SLO;Slo1;Slo;dSlo1;dSlo;dslo;fSlo;slo", "protein_name": "Calcium-activated potassium channel slowpoke", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:0070442", "name": "paroxysmal nonkinesigenic dyskinesia 3", "description": "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0070442", "evidence": [ { "id": "0070442", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070442" } ], "weight": 0.0 }, { "disease_id": "DOID:0070578", "name": "spermatogenic failure 79", "description": "A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0070578", "evidence": [ { "id": "0070578", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070578" } ], "weight": 0.0 }, { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1827", "name": "generalized epilepsy", "description": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.", "url": "https://disease-ontology.org/term/DOID:1827", "evidence": [ { "id": "1827", 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], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" } ], "biological_process": [ { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "circadian behavior", 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"https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium-activated potassium channel activity", "id": "GO:0015269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015269", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "large conductance calcium-activated potassium channel activity", "id": "GO:0060072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060072", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03720-1", "start_pos": "978", "end_pos": "978", "site_lbl": "Ser978", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" }, { "database": "iPTMnet", "id": "Q03720", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03720" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect activation of channel.", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" } ] } ] }, { "uniprot_canonical_ac": "Q03720-1", "start_pos": "1012", "end_pos": "1012", "site_lbl": "Tyr1012", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Affects the interaction with SRC.", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" } ] } ] }, { "uniprot_canonical_ac": "Q03720-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Tyr552", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Affects the interaction with SRC.", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" } ] } ] } ], "record_id": "Q03720-1" }, { "uniprot_canonical_ac": "Q01989-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1253, "chemical_mass": 143299.0, "gene_names": "jar;95F MHC;95F;CG5695;Dm 95F;Dm95F;Dmel\\CG5695;Dmel_CG5695;Dro95F;JAG;Jaguar;Jar;M6;MHC95F;MYOVI;Mhc95F;Myo1A;MyoVI;Myosin VI;dMyo6;dMyoVI;jag;jar;ms(3)06746;myo VI;myo6;myoVI;myosins VI", "protein_name": "Myosin heavy chain 95F", "disease": [ { "disease_id": "DOID:0110495", "name": "autosomal recessive nonsyndromic deafness 37", "description": "An autosomal recessive nonsyndromic deafness that is 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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 } ], "biological_process": [ { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "establishment of mitotic spindle localization", "id": "GO:0040001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040001", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "regulation of actin filament-based process", "id": "GO:0032970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032970", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "nucleus localization", "id": "GO:0051647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051647", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "cell-cell junction maintenance", "id": "GO:0045217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045217", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "asymmetric protein localization involved in cell fate determination", "id": "GO:0045167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045167", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "basal protein localization", "id": "GO:0045175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045175", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "ovarian nurse cell to oocyte transport", "id": "GO:0007300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007300", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "neuroblast division", "id": "GO:0055057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055057", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "follicle cell of egg chamber migration", "id": "GO:0007297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007297", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "metamorphosis", "id": "GO:0007552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007552", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "imaginal disc morphogenesis", "id": "GO:0007560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007560", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "larval chitin-based cuticle development", "id": "GO:0008363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008363", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "morphogenesis of follicular epithelium", "id": "GO:0016333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016333", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "pseudocleavage involved in syncytial blastoderm formation", "id": "GO:0030589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030589", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin light chain binding", "id": "GO:0032027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032027", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin VI light chain binding", "id": "GO:0070856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070856", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "unconventional myosin complex", "id": "GO:0016461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016461", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin VI complex", "id": "GO:0031476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031476", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "germline ring canal", "id": "GO:0045172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045172", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "sperm individualization complex", "id": "GO:0070864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070864", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "investment cone", "id": "GO:0070865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070865", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q01989-1" }, { "uniprot_canonical_ac": "Q9VC35-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 527, "chemical_mass": 59993.0, "gene_names": "lili;BcDNA:GH12663;CG5807;Dmel\\CG5807;Dmel_CG5807;anon-WO0118547.355;lili", "protein_name": "Protein Lilipod", "disease": [ { "disease_id": "DOID:0050603", "name": "acheiropody", "description": "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.", "url": "https://disease-ontology.org/term/DOID:0050603", "evidence": [ { "id": "0050603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050603" } ], "weight": 0.0 }, { "disease_id": "DOID:0060986", "name": "preaxial polydactyly II", "description": "A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:0060986", "evidence": [ { "id": "0060986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060986" } ], "weight": 0.0 }, { "disease_id": "DOID:0080006", "name": "bone development disease", "description": "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.", "url": "https://disease-ontology.org/term/DOID:0080006", "evidence": [ { "id": "0080006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080006" } ], "weight": 0.0 }, { "disease_id": "DOID:0111350", "name": "Laurin-Sandrow syndrome", "description": "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111350", "evidence": [ { "id": "0111350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111350" } ], "weight": 0.0 }, { "disease_id": "DOID:0111564", "name": "hypoplastic or aplastic tibia with polydactyly", "description": "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111564", "evidence": [ { "id": "0111564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111564" } ], "weight": 0.0 }, { "disease_id": "DOID:0111818", "name": "syndactyly type 4", "description": "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111818", "evidence": [ { "id": "0111818", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111818" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "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": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VC35-1" }, { "uniprot_canonical_ac": "Q9VEW2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEW2", "url": "https://www.uniprot.org/uniprotkb/Q9VEW2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 60, "chemical_mass": 6885.0, "gene_names": "BcDNA:AT19233;BcDNA:AT19233;CG17931;Dmel\\CG17931;Dmel_CG17931;Hero7", "protein_name": "Putative SERF-like protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VEW2", "url": "https://www.uniprot.org/uniprotkb/Q9VEW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEW2-1" }, { "uniprot_canonical_ac": "Q9VEK6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEK6", "url": "https://www.uniprot.org/uniprotkb/Q9VEK6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 641, "chemical_mass": 69372.0, "gene_names": "Sur-8;CG5407;CT17146;Dmel\\CG5407;Dmel_CG5407;SUR-8;Sur-8;Sur8", "protein_name": "Leucine-rich repeat protein soc-2 homolog", "disease": [ { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0080691", "name": "Noonan syndrome-like disorder with loose anagen hair", "description": "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.", "url": "https://disease-ontology.org/term/DOID:0080691", "evidence": [ { "id": "0080691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080691" } ], "weight": 0.0 }, { "disease_id": "DOID:0080692", "name": "Noonan syndrome-like disorder with loose anagen hair 1", "description": "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.", "url": "https://disease-ontology.org/term/DOID:0080692", "evidence": [ { "id": "0080692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080692" } ], "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 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q9VEK6", "url": "https://www.uniprot.org/uniprotkb/Q9VEK6" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9VEK6", "url": "https://www.uniprot.org/uniprotkb/Q9VEK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEK6-1" }, { "uniprot_canonical_ac": "Q95R48-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95R48", "url": "https://www.uniprot.org/uniprotkb/Q95R48" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 567, "chemical_mass": 63167.0, "gene_names": "Orct2;CG13610;Dmel\\CG13610;Dmel_CG13610;EP(3)1072;EP1072;Orct2;cald;orct2", "protein_name": "Organic cation transporter-like 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" } ], "weight": 0.0 }, { "disease_id": "DOID:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.", "url": "https://disease-ontology.org/term/DOID:14365", "evidence": [ { "id": "14365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14365" } ], "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": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A 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"https://www.alliancegenome.org/disease/DOID:7148" } ], "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: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:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "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: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: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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24167-1", "start_pos": "1102", "end_pos": "1102", "site_lbl": "Thr1102", "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": 1102, "start_aa": "Thr", "end_pos": 1102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1102", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q24167-1" }, { "uniprot_canonical_ac": "Q05652-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 501, "chemical_mass": 56160.0, "gene_names": "pll;CG5974;Dmel\\CG5974;Dmel_CG5974;IL-1;IRAK1;PELLE/IL-1;PELLE;Pelle;Pll;p11;pll/IRAK1;pll", "protein_name": "Serine/threonine-protein kinase pelle", "disease": [ { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "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: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:2051", "name": "maxillary sinusitis", "description": "A sinusitis which involves infection of maxillary 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. 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The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "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. 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"9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "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 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "Toll signaling pathway", "id": "GO:0008063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008063", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": 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{ "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "larval somatic muscle development", "id": "GO:0007526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007526", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "determination of dorsal/ventral asymmetry", "id": "GO:0048262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048262", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of metabolic process", "id": "GO:0009893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009893", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { 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"record_id": "Q05652-1" }, { "uniprot_canonical_ac": "Q9VDG2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 625, "chemical_mass": 71896.0, "gene_names": "Rlip;CG11622;D-RLIP;DRLIP;Dmel\\CG11622;Dmel_CG11622;RLIP1;RLIP;RalBP1;RhoGAP-93B3;Rlip;dRLIP;dRalBP;dRlip", "protein_name": "RalA-binding protein 1", "disease": [ { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system 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"https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H3R2 demethylase activity", "id": "GO:0033746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033746", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "histone H4R3 demethylase activity", "id": "GO:0033749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033749", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "peptidyl-lysine 5-dioxygenase activity", "id": "GO:0070815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070815", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "P-TEFb complex binding", "id": "GO:0106140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106140", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "dioxygenase activity", "id": "GO:0051213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051213", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD28-1" }, { "uniprot_canonical_ac": "Q9V9V9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 200, "chemical_mass": 23629.0, "gene_names": "Mnat9;CG11539;Dmel\\CG11539;Dmel_CG11539;Mnat9;NAT9", "protein_name": "Alpha/beta-tubulin-N-acetyltransferase 9", "disease": [], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "tubulin N-terminal-methionine acetyltransferase activity", "id": "GO:0120519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120519", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "protein-N-terminal amino-acid acetyltransferase activity", "id": "GO:0004596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004596", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9V9-1" }, { "uniprot_canonical_ac": "Q9VBP3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1181, "chemical_mass": 127945.0, "gene_names": "Tnks;BcDNA:LD22548;CG17487;CG4719;DTNKS;Dm.pARTb;Dmel\\CG4719;Dmel_CG4719;TNKS;Tankyrase;TkrsIR;Tnks;dARTD5;dTANK;dTNKS;tankyrase", "protein_name": "Poly [ADP-ribose] polymerase tankyrase", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "protein localization to chromosome, telomeric region", "id": "GO:0070198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070198", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of telomere capping", "id": "GO:1904355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904355", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140807", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VBP3-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Thr621", "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": 621, "start_aa": "Thr", "end_pos": 621, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr621", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VBP3-1" }, { "uniprot_canonical_ac": "Q9V9Y9-1", "species": [ { "name": "Drosophila 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte axis specification", "id": "GO:0007309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007309", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte anterior/posterior axis specification", "id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton polarization", "id": "GO:0008103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008103", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "chaeta morphogenesis", "id": "GO:0008407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008407", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton organization", "id": "GO:0016325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016325", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V9Y9-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" }, { "database": "PubMed", "id": "26540204", "url": "https://glygen.org/publication/PubMed/26540204" }, { "database": "iPTMnet", "id": "Q9V9Y9", "url": 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"" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": 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"Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": "GO:0035096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035096", "evidence": [ { "database": "UniProtKB", "id": "Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" } ], "cellular_component": [ { "name": "VCP-NPL4-UFD1 AAA ATPase complex", "id": "GO:0034098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034098", "evidence": [ { "database": "UniProtKB", "id": "Q7KN62", "url": "https://www.uniprot.org/uniprotkb/Q7KN62" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", 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"name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060131", "name": "alexithymia", "description": "An agnosia that is a deficiency in understanding, processing, or describing emotions.", "url": "https://disease-ontology.org/term/DOID:0060131", "evidence": [ { "id": "0060131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060131" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID: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:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.", "url": "https://disease-ontology.org/term/DOID:302", "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "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:7475", "name": "diverticulitis", "description": "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.", "url": "https://disease-ontology.org/term/DOID:7475", "evidence": [ { "id": "7475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7475" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "biological_process": [ { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": 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"Q9VCX4", "url": "https://www.uniprot.org/uniprotkb/Q9VCX4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VCX4", "url": "https://www.uniprot.org/uniprotkb/Q9VCX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VCX4-1" }, { "uniprot_canonical_ac": "Q45VV3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q45VV3", "url": "https://www.uniprot.org/uniprotkb/Q45VV3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 395, "chemical_mass": 43594.0, "gene_names": "yki;CG4005;Dmel\\CG4005;Dmel_CG4005;Taz;YAP;YKI;Yap/Taz;Yap;Yki;Yorkie;yap;yki", "protein_name": "Transcriptional coactivator yorkie", "disease": [ { "disease_id": "DOID:0050795", "name": "cone dystrophy", "description": "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.", "url": "https://disease-ontology.org/term/DOID:0050795", "evidence": [ { "id": "0050795", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050795" } ], "weight": 0.0 }, { "disease_id": "DOID:0111249", "name": "uveal coloboma-cleft lip and palate-intellectual disability", "description": "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.", "url": "https://disease-ontology.org/term/DOID:0111249", "evidence": [ { "id": "0111249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111249" } ], "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: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:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ], "weight": 0.0 }, { "disease_id": "DOID:12712", "name": "nephronophthisis", "description": "A kidney disease that is 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"database": "UniProtKB", "id": "Q45VV3", "url": "https://www.uniprot.org/uniprotkb/Q45VV3" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q45VV3", "url": "https://www.uniprot.org/uniprotkb/Q45VV3" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q45VV3", "url": "https://www.uniprot.org/uniprotkb/Q45VV3" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q45VV3", "url": "https://www.uniprot.org/uniprotkb/Q45VV3" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { 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"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:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "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: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: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:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "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: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:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.", "url": "https://disease-ontology.org/term/DOID:13189", "evidence": [ { "id": "13189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ], "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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "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: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:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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" 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IDD9-1" }, { "uniprot_canonical_ac": "Q9V9J3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 517, "chemical_mass": 59069.0, "gene_names": "Src42A;CG14471;CG44128;CG7873;DSrc42A;Dm SRC41;DmHD-29;Dmel\\CG44128;Dmel_CG44128;Dsrc41;Dsrc42A;Dtk5;HD-29;SK2-4;SRC 42A;SRC42A;SRC;Src41;Src42A;Src42a;Src42;Src;Su(D-raf)1;Su(Raf)1;Su(phl)1;Su1;TK5;Tk5;dSrc42A;dSrc;dtk-5;dtk5;l(2)k10108;pSrc;src42A;src42a;src42;src", "protein_name": "Tyrosine-protein kinase Src42A", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent 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"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": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:12528", "name": "lesion of sciatic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:12528", "evidence": [ { "id": "12528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12528" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "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:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:3151", "name": "skin squamous cell carcinoma", "description": "A skin carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:3151", "evidence": [ { "id": "3151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3151" } ], "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:37", "name": "skin disease", "description": "An integumentary system disease that is located_in skin.", "url": "https://disease-ontology.org/term/DOID:37", "evidence": [ { "id": "37", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:37" } ], "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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5742", "name": "pancreatic acinar cell adenocarcinoma", "description": "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.", "url": "https://disease-ontology.org/term/DOID:5742", "evidence": [ { "id": "5742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5742" } ], "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:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "dorsal closure, spreading of leading edge cells", "id": "GO:0007395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007395", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "positive regulation of sevenless 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}, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V9J3-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Gly2", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "In Src42A-myri; 63% of mutants die during embryogenesis. 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Stage 16 embryos, which have undergone dorsal closure, have an irregular arrangement of epidermal cells.", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" }, { "database": "PubMed", "id": "16831834", "url": "https://glygen.org/publication/PubMed/16831834" } ] } ] } ], "record_id": "Q9V9J3-1" }, { "uniprot_canonical_ac": "Q7JR71-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JR71", "url": "https://www.uniprot.org/uniprotkb/Q7JR71" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 181, "chemical_mass": 19221.0, "gene_names": "Sod3;CG13200;CG9027;CT25938;Dmel/CG9027;Dmel\\CG9027;Dmel_CG9027;SOD3;Sod3;dSOD3;dSod3;sod-3", "protein_name": "Extracellular superoxide dismutase [Cu-Zn]", "disease": [ { "disease_id": "DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. 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"13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "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. 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"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:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "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: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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest 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0.0 } ], "biological_process": [ { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "regulation of actin polymerization or depolymerization", "id": "GO:0008064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008064", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "regulation of actin 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"protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NN85-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Ser719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q6NN85", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NN85" } ] } ] }, { "uniprot_canonical_ac": "Q6NN85-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Cys468", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abrogates phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" }, { "database": "PubMed", "id": "11832213", "url": "https://glygen.org/publication/PubMed/11832213" }, { "database": "PubMed", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0036098", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "intercellular transport", "id": "GO:0010496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010496", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "germarium-derived female germ-line cyst formation", "id": "GO:0030727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030727", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "germarium-derived egg chamber formation", "id": "GO:0007293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007293", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" } ], "molecular_function": [ { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V427-1" }, { "uniprot_canonical_ac": "Q9U969-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U969", "url": "https://www.uniprot.org/uniprotkb/Q9U969" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1425, "chemical_mass": 160573.0, "gene_names": "sws;CG2212;Dmel\\CG2212;Dmel_CG2212;PNPLA6;SWS;Sws;olfE;sws", "protein_name": 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[ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3007", "name": "breast ductal carcinoma", "description": "A breast carcinoma that derives_from the lining of milk ducts.", "url": "https://disease-ontology.org/term/DOID:3007", "evidence": [ { "id": "3007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3007" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", 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"https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "astral microtubule nucleation", "id": "GO:0030954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030954", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "pronuclear fusion", "id": "GO:0007344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007344", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "meiotic spindle midzone assembly", "id": "GO:0051257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051257", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": "https://www.uniprot.org/uniprotkb/P52304" } ], "pmid": "" }, { "name": "spindle assembly involved in female meiosis II", "id": "GO:0007058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007058", "evidence": [ { "database": "UniProtKB", "id": "P52304", "url": 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"signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "pmid": "" }, { "name": "sensory perception of taste", "id": "GO:0050909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050909", "evidence": [ { "database": "UniProtKB", "id": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "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": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "pmid": "" }, { "name": "taste receptor activity", "id": "GO:0008527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008527", "evidence": [ { "database": "UniProtKB", "id": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P58985-1" }, { "uniprot_canonical_ac": "P61851-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P61851", "url": "https://www.uniprot.org/uniprotkb/P61851" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 153, "chemical_mass": 15699.0, "gene_names": "Sod1;24492;CG11793;Cu-Zn SOD;Cu-Zn-SOD;Cu/Zn SOD;Cu/Zn Sod;Cu/Zn sod;Cu/Zn superoxide dismutase;Cu/Zn-SOD;Cu/ZnSOD;CuSOD;CuZn SOD;CuZn-SOD1;CuZn-SOD;CuZnSOD;Cu[2+]/Zn[2+]SOD;Cu;Dmel\\CG11793;G;Mn SOD;SOD-1;SOD-c;SOD1;SODC_DROME;SOD;Sod-1;Sod1;Sod;To-1;To;ZN-SOD;Zn SOD;Zn Sod;Zn-SOD1;Zn-SOD;ZnSod;cSOD;cSod;dSOD1;dSod1;dsod1;dsod;l(3)108;l(3)68Af';l(3)G;sod-1;sod1;sod", "protein_name": "Superoxide dismutase [Cu-Zn]", "disease": [ { "disease_id": "DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. 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"13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "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. 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"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:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "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: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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest 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that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.", "url": "https://disease-ontology.org/term/DOID:5113", "evidence": [ { "id": "5113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5113" } ], "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:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": "https://disease-ontology.org/term/DOID:649", "evidence": [ { "id": "649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:649" } ], "weight": 0.0 }, { "disease_id": "DOID:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. 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retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { 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"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: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: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:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14503", "name": "neuronal ceroid lipofuscinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14503", "evidence": [ { "id": "14503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14503" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:3613", "name": "Canavan disease", "description": "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:3613", "evidence": [ { "id": "3613", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3613" } ], "weight": 0.0 }, { "disease_id": "DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "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: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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "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: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: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "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: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: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: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 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } 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"id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q03042", "url": "https://www.uniprot.org/uniprotkb/Q03042" } ], "pmid": "" }, { "name": "larval somatic muscle development", "id": "GO:0007526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007526", "evidence": [ { "database": "UniProtKB", "id": "Q03042", "url": "https://www.uniprot.org/uniprotkb/Q03042" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q03042-1" }, { "uniprot_canonical_ac": "Q03334-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 151, "chemical_mass": 17178.0, "gene_names": "RpS13;CG13389;Dmel\\CG13389;Dmel_CG13389;M(2)29B;M(2)32A;M(2)32;RPS13;Rp S13;Rp17;RpS13;Rps 13;Rps13;S13;S15;l(2)k09614;rpS13", "protein_name": "Small ribosomal subunit protein uS15", "disease": [ { "disease_id": "DOID:0060036", "name": "intrinsic cardiomyopathy", "description": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.", "url": "https://disease-ontology.org/term/DOID:0060036", "evidence": [ { "id": "0060036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060036" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "small ribosomal subunit rRNA binding", "id": "GO:0070181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070181", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q03334-1" }, { "uniprot_canonical_ac": "Q04047-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 700, "chemical_mass": 76977.0, "gene_names": "nonA;Bj6-1;Bj6;CG4211;Dmel\\CG4211;Dmel_CG4211;NONA;NonA;dNONO;diss;non-A;nonA/diss;nonA;nona;opm2;p54[nrb];x14", "protein_name": "Protein no-on-transient A", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0060817", "name": "syndromic X-linked intellectual disability 34", "description": "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.", "url": "https://disease-ontology.org/term/DOID:0060817", "evidence": [ { "id": "0060817", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060817" } ], "weight": 0.0 }, { "disease_id": "DOID:0080685", "name": "aortic dissection", "description": "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.", "url": "https://disease-ontology.org/term/DOID:0080685", "evidence": [ { "id": "0080685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080685" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "visual behavior", "id": "GO:0007632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007632", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "phototaxis", "id": "GO:0042331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042331", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "male courtship behavior, veined wing generated song production", "id": "GO:0045433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045433", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q04047-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q04047", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q04047" } ] } ] } ], "record_id": "Q04047-1" }, { "uniprot_canonical_ac": "Q05856-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 199, "chemical_mass": 21021.0, "gene_names": "SmB;B;CG5352;Dmel\\CG5352;SYM10;Sm B;SmB1;SmB;Smb;dSmB;l(2)SH0509;l(2)SH2 0509;smb;snRNP B", "protein_name": "Small nuclear ribonucleoprotein-associated protein B", "disease": [ { "disease_id": "DOID:0111248", "name": "cerebrocostomandibular syndrome", "description": "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.", "url": "https://disease-ontology.org/term/DOID:0111248", "evidence": [ { "id": "0111248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111248" } ], "weight": 0.0 }, { "disease_id": "DOID:11983", "name": "Prader-Willi syndrome", "description": "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. 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"name": "U1 snRNP", "id": "GO:0005685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005685", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "small nuclear ribonucleoprotein complex", "id": "GO:0030532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030532", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U5 snRNP", "id": "GO:0005682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005682", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U2-type prespliceosome", "id": "GO:0071004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071004", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "pole plasm", "id": "GO:0045495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045495", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" } ], "biological_process": [ { "name": "7-methylguanosine cap hypermethylation", "id": "GO:0036261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036261", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "nuclear histone mRNA catabolic process", "id": "GO:0071045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071045", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": 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0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Unable to localize to the pole plasm; when associated with L-112; G-130; L-145; L-181; L-189 and G-196.", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" }, { "database": "PubMed", "id": "20659974", "url": "https://glygen.org/publication/PubMed/20659974" } ] } ] }, { "uniprot_canonical_ac": "Q05856-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Arg181", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Unable to localize to the pole plasm; when associated with L-112; G-130; L-145; L-174; L-189 and G-196.", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" }, { "database": "PubMed", "id": "20659974", "url": "https://glygen.org/publication/PubMed/20659974" } ] } ] }, { "uniprot_canonical_ac": "Q05856-1", "start_pos": "189", "end_pos": "189", 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"end_pos": "658", "site_lbl": "Asn658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "No effect on RNA-binding; when associated with R-665; I-724 and R-749.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] }, { "uniprot_canonical_ac": "Q23972-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Gln665", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "No effect on RNA-binding; when associated with D-658; I-724 and R-749.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] }, { "uniprot_canonical_ac": "Q23972-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Val724", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "No effect on RNA-binding; when associated with D-658; R-665 and R-749.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] }, { "uniprot_canonical_ac": "Q23972-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Arg739", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "No effect on RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] }, { "uniprot_canonical_ac": "Q23972-1", "start_pos": "749", "end_pos": "749", "site_lbl": "His749", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "No effect on RNA-binding; when associated with D-658; I-724 and R-665.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] } ], "record_id": "Q23972-1" }, { "uniprot_canonical_ac": "Q23973-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 217, "chemical_mass": 24780.0, "gene_names": "mtrm;CG18543;D52;Dmel\\CG18543;Mtrm;anon-D52;anonD52;mtrm", "protein_name": "Protein matrimony", "disease": [], "biological_process": [ { "name": "homologous chromosome segregation", "id": "GO:0045143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045143", "evidence": [ { "database": 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"https://glygen.org/publication/PubMed/18052611" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect interaction with polo.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18052611", "url": "https://glygen.org/publication/PubMed/18052611" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" }, { "database": "PubMed", "id": "18052611", "url": "https://glygen.org/publication/PubMed/18052611" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" }, { "database": "PubMed", "id": "18052611", "url": "https://glygen.org/publication/PubMed/18052611" }, { "database": "PubMed", "id": "30351378", "url": "https://glygen.org/publication/PubMed/30351378" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes interaction with polo and ability to maintain G2 arrest.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18052611", "url": "https://glygen.org/publication/PubMed/18052611" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q23973", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Gly170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on degradation during the oocyte-to-embryo transition.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Arg193", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on degradation during the oocyte-to-embryo transition; when associated with A-95.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Leu21", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased degradation during the oocyte-to-embryo transition.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Arg95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on degradation during the oocyte-to-embryo transition; when associated with A-193.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] } ], "record_id": "Q23973-1" }, { "uniprot_canonical_ac": "Q23983-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"url": "https://www.alliancegenome.org/disease/DOID:0070393" } ], "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:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "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 } ], "biological_process": [ { "name": "SNARE complex disassembly", "id": "GO:0035494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035494", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031629", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "imaginal disc-derived wing expansion", "id": "GO:0048526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048526", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": 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"pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "soluble NSF attachment protein activity", "id": "GO:0005483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005483", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q23983-1" }, { "uniprot_canonical_ac": "Q24039-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": 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"Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" }, { "name": "core-binding factor complex", "id": "GO:0016513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016513", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "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": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "larval central nervous system remodeling", "id": "GO:0035193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035193", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia morphogenesis", "id": "GO:0048803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048803", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": 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skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0060764", "evidence": [ { "id": "0060764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060764" } ], "weight": 0.0 }, { "disease_id": "DOID:0080263", "name": "autosomal recessive nonsyndromic deafness 108", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0080263", "evidence": [ { "id": "0080263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080263" } ], "weight": 0.0 }, { "disease_id": "DOID:0110969", "name": "brachydactyly type B1", "description": "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0110969", "evidence": [ { "id": "0110969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110969" } ], "weight": 0.0 }, { "disease_id": "DOID:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24488-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked 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"site_lbl": "Tyr565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ] } ] }, { "uniprot_canonical_ac": "Q24488-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Tyr569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ] } ] }, { "uniprot_canonical_ac": "Q24488-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Tyr570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ] } ] } ], "record_id": "Q24488-1" }, { "uniprot_canonical_ac": "Q24498-2", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 5127, "chemical_mass": 581012.0, "gene_names": "RyR;CG10844;D-RyR;DRR;DRY;DmRyR;Dmel\\CG10844;RYR;RyRs;RyR;Rya-44F;Rya-R44F;Rya-r44F;Rya-r4;Rya-r76CD;Ryr;dRyR;dRyr;dry;dya;l(2)k00424;l(2)k04913;rya-r44F;ryr", "protein_name": "Ryanodine receptor", "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": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0060675", "name": "catecholaminergic polymorphic ventricular tachycardia 1", "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0060675", "evidence": [ { "id": "0060675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060675" } ], "weight": 0.0 }, { "disease_id": "DOID:0080990", "name": "King Denborough syndrome", "description": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.", "url": "https://disease-ontology.org/term/DOID:0080990", "evidence": [ { "id": "0080990", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080990" } ], "weight": 0.0 }, { "disease_id": "DOID:0080991", "name": "congenital myopathy 1B", "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.", "url": "https://disease-ontology.org/term/DOID:0080991", "evidence": [ { "id": "0080991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080991" } ], "weight": 0.0 }, { "disease_id": "DOID:0081352", "name": "congenital myopathy 20", "description": "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.", "url": "https://disease-ontology.org/term/DOID:0081352", "evidence": [ { "id": "0081352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081352" } ], "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: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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "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: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:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "ryanodine-sensitive calcium-release channel activity", "id": "GO:0005219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005219", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "store-operated calcium channel activity", "id": "GO:0015279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015279", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": 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melanogaster [7227]" } ], "length": 981, "chemical_mass": 103014.0, "gene_names": "Syn;CG3985;Dmel\\CG3985;Dsyn-1;SYN1;SYN2;SYN;Syn-1;Syn-2;Syn;synapsin;syn", "protein_name": "Synapsin", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0112029", "name": "non-syndromic X-linked intellectual disability 50", "description": "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.", "url": "https://disease-ontology.org/term/DOID:0112029", "evidence": [ { "id": "0112029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112029" } ], "weight": 0.0 }, { "disease_id": "DOID:0112122", "name": "X-linked epilepsy with variable learning disabilities and behavior disorders", "description": "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.", "url": "https://disease-ontology.org/term/DOID:0112122", "evidence": [ { "id": "0112122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112122" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "terminal button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "optomotor response", "id": "GO:0071632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071632", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" } ], "cellular_component": [ { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24546-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Thr429", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", 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"" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription factor TFIID complex", "id": "GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "SAGA complex", "id": "GO:0000124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000124", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": 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{ "uniprot_canonical_ac": "Q2MGL3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q2MGL3", "url": "https://www.uniprot.org/uniprotkb/Q2MGL3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 167, "chemical_mass": 18876.0, "gene_names": "Rpp20;BcDNA:RE70209;CG12533;CG32530-ORFA;CG32530;CG33931;Dmel\\CG33931;Dmel_CG33931;Pop7;Rpp20;dRpp20", "protein_name": "Ribonuclease P protein subunit p20", "disease": [], "cellular_component": [ { "name": "nucleolar ribonuclease P complex", "id": "GO:0005655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005655", "evidence": [ { "database": "UniProtKB", "id": "Q2MGL3", "url": "https://www.uniprot.org/uniprotkb/Q2MGL3" } ], "pmid": "" }, { "name": "multimeric ribonuclease P complex", "id": "GO:0030681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030681", "evidence": [ { "database": "UniProtKB", "id": 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has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in 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"id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "histone H3K9 methyltransferase activity", "id": "GO:0046974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046974", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "histone H3K9me2 methyltransferase activity", "id": "GO:0140947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140947", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "histone H3K9 trimethyltransferase 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"GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "female germ-line stem cell asymmetric division", "id": "GO:0048132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048132", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated heterochromatin formation", "id": "GO:0141006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141006", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "transposable element silencing by heterochromatin formation", "id": "GO:0141005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141005", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q32KD2-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Thr747", "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": 747, "start_aa": "Thr", "end_pos": 747, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr747", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q32KD2-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q32KD2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q32KD2" } ] } ] }, { "uniprot_canonical_ac": "Q32KD2-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Thr217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": 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"disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "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:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "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: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: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:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "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: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:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.", "url": "https://disease-ontology.org/term/DOID:13189", "evidence": [ { "id": "13189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ], "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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "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: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:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled amine receptor activity", "id": "GO:0008227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008227", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "octopamine receptor activity", "id": "GO:0004989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004989", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "113", "end_pos": "113", "site_lbl": "Asn113", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "196", "end_pos": "196", "site_lbl": "Asn196", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 196, "start_aa": "Asn", "end_pos": 196, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn196", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "36", "end_pos": "36", "site_lbl": "Asn36", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 36, "start_aa": "Asn", "end_pos": 36, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn36", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] } ], "record_id": "Q4LBB6-6" }, { "uniprot_canonical_ac": "Q4V5I9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 163, "chemical_mass": 19194.0, "gene_names": "146793_at;CG14757;Dmel\\CG14757", "protein_name": "Succinate dehydrogenase assembly factor 2-A, mitochondrial", "disease": [ { "disease_id": "DOID:0061217", "name": "pheochromocytoma/paraganglioma syndrome 2", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene.", "url": "https://disease-ontology.org/term/DOID:0061217", "evidence": [ { "id": "0061217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061217" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": 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"Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" }, { "name": "protein-FAD linkage", "id": "GO:0018293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018293", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex II assembly", "id": "GO:0034553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034553", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" } ], "molecular_function": [ { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q4V5I9-1" }, { "uniprot_canonical_ac": "Q4V5R4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 460, "chemical_mass": 52035.0, "gene_names": "polyph;CG12943;Dmel\\CG12943;polyph", "protein_name": "Glutamate transporter polyphemus", "disease": [ { "disease_id": "DOID:0112265", "name": "iminoglycinuria", "description": "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.", "url": "https://disease-ontology.org/term/DOID:0112265", "evidence": [ { "id": "0112265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112265" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "pmid": "" } ], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q6AWN0", "url": "https://www.uniprot.org/uniprotkb/Q6AWN0" } ], "pmid": "" }, { "name": "positive regulation of reproductive process", "id": "GO:2000243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000243", "evidence": [ { "database": "UniProtKB", "id": "Q6AWN0", "url": "https://www.uniprot.org/uniprotkb/Q6AWN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6AWN0-1" }, { "uniprot_canonical_ac": "Q6IGX9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGX9", "url": "https://www.uniprot.org/uniprotkb/Q6IGX9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 72, "chemical_mass": 7901.0, "gene_names": "SIFa;CG33527;Dmel\\CG33527;Drm-IFa;Drm-SIFa;IFAMIDE;IFa;Neb-LFamide;SIFR;SIFa;SIF", "protein_name": 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"" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q6IGX9", "url": "https://www.uniprot.org/uniprotkb/Q6IGX9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6IGX9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Asn34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 34, "start_aa": "Asn", "end_pos": 34, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "evidence": [ { "id": "Q6IGX9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6IGX9#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": 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"Ste:CG33247;CG32605;CG33247;Dmel\\CG33247;Ste:CG33247", "protein_name": "Stellate protein CG33247", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" }, { "name": "protein kinase CK2 complex", "id": "GO:0005956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005956", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KV23-1" }, { "uniprot_canonical_ac": "Q7PLK0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 867, "chemical_mass": 99129.0, "gene_names": "AGO3;AGO-3;AGO3;Ago-3;Ago3;BEST:LD15785;CG40300;Dmel\\CG40300;ago3;dAgo3", "protein_name": "Protein argonaute-3", "disease": [], "cellular_component": [ { "name": "extrinsic component of mitochondrial outer membrane", "id": "GO:0031315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031315", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated mRNA destabilization", "id": "GO:0141009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141009", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "piRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0140991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140991", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism", "id": "GO:0016891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016891", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7PLK0-1" }, { "uniprot_canonical_ac": "Q7YTY6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7YTY6", "url": "https://www.uniprot.org/uniprotkb/Q7YTY6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 372, "chemical_mass": 41179.0, "gene_names": "Spn42Dd;CG9456;Dmel\\CG9456;Spn1;Spn42Dd;sp1", "protein_name": "Serine protease inhibitor 42Dd", "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": "negative regulation of antifungal innate immune response", "id": "GO:1905035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905035", "evidence": [ { "database": "UniProtKB", "id": "Q7YTY6", "url": "https://www.uniprot.org/uniprotkb/Q7YTY6" } ], "pmid": "" }, { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q7YTY6", "url": "https://www.uniprot.org/uniprotkb/Q7YTY6" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q7YTY6", "url": "https://www.uniprot.org/uniprotkb/Q7YTY6" } ], "pmid": "" }, { "name": "immune system process", "id": 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"biomarkers": [], "sites": [], "record_id": "Q8T3Y0-1" }, { "uniprot_canonical_ac": "Q8WTC1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 280, "chemical_mass": 33473.0, "gene_names": "bonsai;CG4207;DmMRPS15;Dmel\\CG4207;MRP-S15;bonsai;mRpS15", "protein_name": "Small ribosomal subunit protein uS15m", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8WTC1-1" }, { "uniprot_canonical_ac": "Q94517-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 521, "chemical_mass": 58331.0, "gene_names": "HDAC1;CG7471;DHDAC1;DRpd3;DmHDAC1;DmRpd3;Dmel\\CG7471;E(var)3-64BC;HDAC-1;HDAC1;HDAC;Hdac1;Hdac;RPD3;Rpd3/HDAC;Rpd3;Su(var)3-26;Su(var)3-64B;Su(var)326;Su(var)328;dHDAC-1;dHDAC1;dRPD3;dRpd3;dmHDA401;drpd3;hdac1;l(3)04556;l(3)64Cc;rpd3;rpd[3]", "protein_name": "Histone deacetylase HDAC1", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "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: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: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: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: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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8616", "name": "Peyronie's disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8616", "evidence": [ { "id": "8616", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8616" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "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: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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of response to gamma radiation", "id": "GO:2001229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001229", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "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": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "dendrite guidance", "id": "GO:0070983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070983", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated heterochromatin formation", "id": "GO:0141006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141006", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "ESC/E(Z) complex", "id": "GO:0035098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035098", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "Myb complex", "id": "GO:0031523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031523", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "Sin3-type complex", "id": "GO:0070822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070822", "evidence": [ { 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"nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q94522", "url": "https://www.uniprot.org/uniprotkb/Q94522" } ], "pmid": "" }, { "name": "succinate-CoA ligase (ADP-forming) activity", "id": "GO:0004775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004775", "evidence": [ { "database": "UniProtKB", "id": "Q94522", "url": "https://www.uniprot.org/uniprotkb/Q94522" } ], "pmid": "" }, { "name": "succinate-CoA ligase (GDP-forming) activity", "id": "GO:0004776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004776", "evidence": [ { "database": "UniProtKB", "id": "Q94522", "url": "https://www.uniprot.org/uniprotkb/Q94522" } ], "pmid": "" }, { "name": "succinate-CoA ligase activity", "id": "GO:0004774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004774", "evidence": [ { "database": "UniProtKB", "id": "Q94522", "url": "https://www.uniprot.org/uniprotkb/Q94522" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q94522-1" }, { "uniprot_canonical_ac": "Q94523-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94523", "url": "https://www.uniprot.org/uniprotkb/Q94523" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 661, "chemical_mass": 72343.0, "gene_names": "SdhA;2R1;CG17246;DHSA;Dmel\\CG17246;SDH;Scs-fp;Sdh A;SdhA;Sdha;Sdh;dSDHA;scs-fp;sdhA;sdh", "protein_name": "Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": 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"Q9V3G1-1" }, { "uniprot_canonical_ac": "Q9V3G3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3G3", "url": "https://www.uniprot.org/uniprotkb/Q9V3G3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 300, "chemical_mass": 33276.0, "gene_names": "cyp33;CG4886;CYP33;Cyp33;Dcyp33;Dmel\\CG4886;cyp33", "protein_name": "Peptidyl-prolyl cis-trans isomerase E", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9V3G3", "url": "https://www.uniprot.org/uniprotkb/Q9V3G3" } ], "pmid": "" }, { "name": "cyclosporin A binding", "id": "GO:0016018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016018", "evidence": [ { "database": "UniProtKB", "id": "Q9V3G3", "url": "https://www.uniprot.org/uniprotkb/Q9V3G3" } ], 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"Drosophila melanogaster [7227]" } ], "length": 356, "chemical_mass": 39528.0, "gene_names": "Sec13;BEST:CK00043;BcDNA:LD03471;CG6773;CK00043;Dmel\\CG6773;Dsec13;GATOR2;SEC13;Sec13;l(3)01031;sec13", "protein_name": "Protein SEC13 homolog", "disease": [ { "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. 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"molecular_function": [ { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" }, { "name": "N-acetylmuramoyl-L-alanine amidase activity", "id": "GO:0008745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008745", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" }, { "name": "peptidoglycan immune receptor activity", "id": "GO:0016019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016019", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": 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"GO:0160032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160032", "evidence": [ { "database": "UniProtKB", "id": "Q9V4X2", "url": "https://www.uniprot.org/uniprotkb/Q9V4X2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V4X2-1" }, { "uniprot_canonical_ac": "Q9V535-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 165, "chemical_mass": 19010.0, "gene_names": "tsu;CG8781;Dmel\\CG8781;TSU;Tsu;Y14/Tsunagi;Y14;cg8781;dY14;tsu;y14", "protein_name": "RNA-binding protein 8A", "disease": [ { "disease_id": "DOID:14699", "name": "thrombocytopenia-absent radius syndrome", "description": "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.", "url": "https://disease-ontology.org/term/DOID:14699", "evidence": [ { "id": "14699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14699" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "exon-exon junction complex", "id": "GO:0035145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035145", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" } ], "biological_process": [ { "name": "import into nucleus", "id": "GO:0051170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051170", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "establishment of pole plasm mRNA localization", "id": "GO:0046595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046595", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "oocyte dorsal/ventral axis specification", "id": "GO:0007310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007310", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "oocyte anterior/posterior axis specification", "id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "pole plasm oskar mRNA localization", "id": "GO:0045451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045451", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "oocyte nucleus localization involved in oocyte dorsal/ventral axis specification", "id": "GO:0051663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051663", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V535-1" }, { "uniprot_canonical_ac": "Q9V568-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 378, "chemical_mass": 43339.0, "gene_names": "Or45a;45C.1;45a;CG1978;DOR58;Dmel\\CG1978;Or45a", "protein_name": "Odorant receptor 45a", "disease": [], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "ionotropic olfactory receptor activity", "id": "GO:0170020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170020", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V568-1" }, { "uniprot_canonical_ac": "Q9V589-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 396, "chemical_mass": 46324.0, "gene_names": "Or45b;45F.1;45b;CG12931;DOR107;Dmel\\CG12931;Or45b", "protein_name": "Odorant receptor 45b", "disease": [], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "pmid": "" }, { "name": "ionotropic olfactory receptor activity", "id": "GO:0170020", "url": 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motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "regulation of fertilization", "id": "GO:0080154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080154", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "oocyte nucleus localization involved in oocyte dorsal/ventral axis specification", "id": "GO:0051663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051663", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "posterior mRNA localization involved in anterior/posterior axis specification", "id": "GO:0060814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060814", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEX5-1" }, { "uniprot_canonical_ac": "Q9VEZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VEZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 751, "chemical_mass": 86373.0, "gene_names": "IKKbeta;CG4201;DIK;DLAK;DmIKKBeta;DmIKKbeta;DmIKKb;DmIKK;DmIkkbeta;Dmel\\CG4201;Dmikkbeta;Dmikkb;IKK-beta;IKKBeta;IKKB;IKKbeta;IKKb;IKK;IK;IRD-5;IRD5;Ikkbeta;Ikkb;Ik;Ird-5;Ird5;LRK;Lak;anon-89Bd;dIKK-beta;dIKKbeta;dIKK;dLak;dmIKKbeta;ikk;ird-5;ird5/DmIkk[beta];ird5;ird[5];ird", "protein_name": "Inhibitor of nuclear factor kappa-B kinase subunit beta", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060647", "name": "fetal encasement syndrome", "description": "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are 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T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.", "url": "https://disease-ontology.org/term/DOID:0111960", "evidence": [ { "id": "0111960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111960" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in 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"start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VEZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VEZ5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VEZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VEZ5" } ] } ] }, { "uniprot_canonical_ac": "Q9VEZ5-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Lys70", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VEZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VEZ5" }, { "database": "PubMed", "id": "10636911", "url": "https://glygen.org/publication/PubMed/10636911" } ] } ] } ], "record_id": "Q9VEZ5-1" }, { "uniprot_canonical_ac": "Q9VF26-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1434, "chemical_mass": 164510.0, "gene_names": "spn-E;CG3158;Dmel\\CG3158;SPN-E;Spindle-E;Spn-E;SpnE;fs(1)hls;fs(3)hls;hes;hls;homeless;spin-E;spn E;spn-E/hls;spn-E;spnE", "protein_name": "Probable ATP-dependent RNA helicase spindle-E", "disease": [ { "disease_id": "DOID:0111913", "name": "spermatogenic failure 30", "description": "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33.", "url": "https://disease-ontology.org/term/DOID:0111913", "evidence": [ { "id": "0111913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111913" } ], "weight": 0.0 } ], "biological_process": [ { "name": "polarity specification of anterior/posterior axis", "id": "GO:0009949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009949", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "RNA localization", "id": "GO:0006403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006403", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "pole plasm assembly", "id": "GO:0007315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007315", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "polarity specification of dorsal/ventral axis", "id": "GO:0009951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009951", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "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": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "global gene silencing by mRNA cleavage", "id": "GO:0098795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098795", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated mRNA destabilization", "id": "GO:0141009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141009", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "piRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0140991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140991", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on RNA", "id": "GO:0008186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008186", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VF26-1" }, { "uniprot_canonical_ac": "Q9VFB2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 20031.0, "gene_names": "mRpS10;BcDNA:GM25447;CG4247;Dmel\\CG4247;MRP-S10;MrpS10;mRpS10", "protein_name": "Small ribosomal subunit protein uS10m", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFB2-1" }, { "uniprot_canonical_ac": "Q9VFB7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1145, "chemical_mass": 130804.0, "gene_names": "SIDL;CG6623;Dmel\\CG6623;SIDL;TRAPPC10", "protein_name": "Trafficking protein particle complex subunit 10", "disease": [ { "disease_id": "DOID:0060341", "name": "agnathia-otocephaly complex", "description": "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.", "url": "https://disease-ontology.org/term/DOID:0060341", "evidence": [ { "id": "0060341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060341" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.", "url": "https://disease-ontology.org/term/DOID:12583", "evidence": [ { "id": "12583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12583" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "TRAPPII protein complex", "id": "GO:1990071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990071", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "early endosome to Golgi transport", "id": "GO:0034498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034498", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFB7-1" }, { "uniprot_canonical_ac": "Q9VFC2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFC2", "url": "https://www.uniprot.org/uniprotkb/Q9VFC2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 48476.0, "gene_names": "Spn88Ea;CG18525;Dmel\\CG18525;Sp5;Spn5;Spn88Ea;sp5;spn5", "protein_name": "Serine protease inhibitor 88Ea", "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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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 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"https://www.ebi.ac.uk/QuickGO/term/GO:0160035", "evidence": [ { "database": "UniProtKB", "id": "Q9VFC2", "url": "https://www.uniprot.org/uniprotkb/Q9VFC2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VFC2-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Asn224", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 224, "start_aa": "Asn", "end_pos": 224, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn224", "evidence": [ { "id": "Q9VFC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VFC2#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] } ], "record_id": "Q9VFC2-1" 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"evidence": [ { "database": "UniProtKB", "id": "Q9VFL5", "url": "https://www.uniprot.org/uniprotkb/Q9VFL5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 582, "chemical_mass": 65998.0, "gene_names": "MetRS-m;Aats-Met;Aats-met-m;Aats-met;CG31322;CG8684;CG9612;Dmel\\CG31322;MRS;MetRS-m;MetRS;dMARS", "protein_name": "Methionine--tRNA ligase, mitochondrial", "disease": [ { "disease_id": "DOID:0050942", "name": "spastic ataxia 3", "description": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0050942", "evidence": [ { "id": "0050942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050942" } ], "weight": 0.0 }, { "disease_id": 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"rdx;0869/09;BEST:GM07940;CG10235;CG12537;CG9924;D-SPOP;Dmel\\CG12537;Dromel_CG9924_FBtr0082871_rdx_mORF;HIB;Hib;Rdx;SPOP;Spop;anon-WO0118547.577;hib;l(3)03477;l(3)2004;l(3)88Aa;l(3)A6;l(3)S086909;l(3)SG40;l(3)dsl-6;l(3)dsl6;l(3)j1D1;l(3)j4C7;mei-P19;rdx", "protein_name": "Protein roadkill", "disease": [ { "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: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" } ], 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP2", "url": "https://www.uniprot.org/uniprotkb/Q9VFP2" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP2", "url": "https://www.uniprot.org/uniprotkb/Q9VFP2" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP2", "url": "https://www.uniprot.org/uniprotkb/Q9VFP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFP2-1" }, { "uniprot_canonical_ac": "Q9VGP6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 194, "chemical_mass": 22314.0, "gene_names": "mgr;BcDNA:LD34406;CG6719;Dmel\\CG6719;Mgr;PAC10;Pfdn3;mgr", "protein_name": "Prefoldin subunit 3", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "pmid": "" }, { "name": "prefoldin complex", "id": "GO:0016272", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGP6-1" }, { "uniprot_canonical_ac": "Q9VGR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGR2", "url": "https://www.uniprot.org/uniprotkb/Q9VGR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 437, "chemical_mass": 49068.0, "gene_names": "CG17726;Dmel\\CG17726", "protein_name": "Protein arginine methyltransferase NDUFAF7 homolog, mitochondrial", 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"uniprot_canonical_ac": "Q9VIW7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIW7", "url": "https://www.uniprot.org/uniprotkb/Q9VIW7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 506, "chemical_mass": 55916.0, "gene_names": "RtcB;CG9987;Dmel\\CG9987;RtcB;Rtcb", "protein_name": "RNA-splicing ligase RtcB", "disease": [ { "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 } ], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": 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"https://www.alliancegenome.org/disease/DOID:0050650" } ], "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:0060319", "name": "cardiac arrest", "description": "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.", "url": "https://disease-ontology.org/term/DOID:0060319", "evidence": [ { "id": "0060319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060319" } ], "weight": 0.0 }, { "disease_id": "DOID:0060334", "name": "transient neonatal diabetes mellitus", "description": "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.", "url": "https://disease-ontology.org/term/DOID:0060334", "evidence": [ { "id": "0060334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060334" } ], "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:0061174", "name": "transient neonatal diabetes mellitus 2", "description": "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0061174", "evidence": [ { "id": "0061174", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061174" } ], "weight": 0.0 }, { "disease_id": "DOID:0070219", "name": "familial hyperinsulinemic hypoglycemia 1", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0070219", "evidence": [ { "id": "0070219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070219" } ], "weight": 0.0 }, { "disease_id": "DOID:0070600", "name": "intellectual disability and myopathy syndrome", "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0070600", "evidence": [ { "id": "0070600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0110451", "evidence": [ { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ], "weight": 0.0 }, { "disease_id": "DOID:0112262", "name": "leucine-sensitive hypoglycemia of infancy", "description": "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.", "url": "https://disease-ontology.org/term/DOID:0112262", "evidence": [ { "id": "0112262", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112262" } ], "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: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: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:13317", "name": "hyperinsulinemic hypoglycemia", "description": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.", "url": "https://disease-ontology.org/term/DOID:13317", "evidence": [ { "id": "13317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13317" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "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:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL32-1" }, { "uniprot_canonical_ac": "Q9VL52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1476, "chemical_mass": 168480.0, "gene_names": "SoYb;CG31755;CG5831;Dmel\\CG31755;SoYb;soyb", "protein_name": "Putative ATP-dependent RNA helicase SoYb", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "Yb body", "id": "GO:0070725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070725", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" } ], "biological_process": [ { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "primary piRNA processing", "id": "GO:0140990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140990", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VL52-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "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": 247, "start_aa": "Thr", "end_pos": 247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr247", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VL52-1" }, { "uniprot_canonical_ac": "Q9VLJ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 174, "chemical_mass": 20233.0, "gene_names": "mRpL51;CG13098;Dmel\\CG13098;MRP-L51;mRpL51", "protein_name": "Large ribosomal subunit protein mL51", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLJ9-1" }, { "uniprot_canonical_ac": "Q9VLP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 326, "chemical_mass": 38034.0, "gene_names": "CG7840;Dmel\\CG7840;cg7840", "protein_name": "Polyprenal reductase", "disease": [ { "disease_id": "DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050570", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ], "weight": 0.0 }, { "disease_id": "DOID:0050807", "name": "Kahrizi syndrome", "description": "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.", "url": "https://disease-ontology.org/term/DOID:0050807", "evidence": [ { "id": "0050807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050807" } ], "weight": 0.0 }, { "disease_id": "DOID:0080568", "name": "congenital disorder of glycosylation Iq", "description": "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.", "url": "https://disease-ontology.org/term/DOID:0080568", "evidence": [ { "id": "0080568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080568" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity", "id": "GO:0047751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047751", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" }, { "name": "polyprenal reductase activity", "id": "GO:0160198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160198", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" } ], "biological_process": [ { "name": "dolichyl monophosphate biosynthetic process", "id": "GO:0043048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043048", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLP9-1" }, { "uniprot_canonical_ac": "Q9VLR5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 110, "chemical_mass": 12189.0, "gene_names": "Ssb-c31a;C31A;CG8396;Dmel\\CG8396;PC4-like;Ssb-C31a;Ssb-c31a;c31A;p11", "protein_name": "RNA polymerase II transcriptional coactivator", "disease": [], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLR5-1" }, { "uniprot_canonical_ac": "Q9VLU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 536, "chemical_mass": 59350.0, "gene_names": "Spn28Dc;CG7219;Dm-Spn28D;Dmel\\CG7219;Spn28Dc;Spn28D;spn28D", "protein_name": "Serine protease inhibitor 28Dc", "disease": [ { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050847", "name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050847" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.", "url": "https://disease-ontology.org/term/DOID:0050851", "evidence": [ { "id": "0050851", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050925", "name": "small intestine carcinoid neuroendocrine tumor", "description": "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.", "url": "https://disease-ontology.org/term/DOID:0050925", "evidence": [ { "id": "0050925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050925" } ], "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:0060181", "name": "ischemic colitis", "description": "A colitis caused_by inadequate blood supply to the colon.", "url": "https://disease-ontology.org/term/DOID:0060181", "evidence": [ { "id": "0060181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060181" } ], "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: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:0070524", "name": "peeling skin syndrome 5", "description": "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.", "url": "https://disease-ontology.org/term/DOID:0070524", "evidence": [ { "id": "0070524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070524" } ], "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: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:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0110536", "name": "autosomal recessive nonsyndromic deafness 91", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110536", "evidence": [ { "id": "0110536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110536" } ], "weight": 0.0 }, { "disease_id": "DOID:0111046", "name": "platelet-type bleeding disorder 10", "description": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0111046", "evidence": [ { "id": "0111046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111046" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "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: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: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: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: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: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:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "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: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: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: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:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13809", "name": "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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "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: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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "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: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: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: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: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:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "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:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "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:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular 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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "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": "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" } ], "biological_process": [ { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" }, { "name": "melanin biosynthetic process", "id": "GO:0042438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042438", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" }, { "name": "negative regulation of melanization defense response", "id": "GO:0035009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035009", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLU4-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Asn355", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 355, "start_aa": "Asn", "end_pos": 355, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn355", "evidence": [ { "id": "Q9VLU4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] } ], "record_id": "Q9VLU4-1" }, { "uniprot_canonical_ac": "Q9VLU6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU6", "url": "https://www.uniprot.org/uniprotkb/Q9VLU6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 118, "chemical_mass": 13323.0, "gene_names": "Sirup;BcDNA:GH18422;CG7224;Dmel\\CG7224;Sdhaf4;Sirup;anon-EST:Posey12;dSdhaf4", "protein_name": "Succinate dehydrogenase assembly factor 4, mitochondrial", "disease": [ { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an 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"evidence": [ { "database": "UniProtKB", "id": "Q9VLU6", "url": "https://www.uniprot.org/uniprotkb/Q9VLU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLU6-1" }, { "uniprot_canonical_ac": "Q9VLV5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLV5", "url": "https://www.uniprot.org/uniprotkb/Q9VLV5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 94, "chemical_mass": 11096.0, "gene_names": "SmE;BcDNA:GM19936;CG18591;Dmel\\CG18591;E-Sm;E;SmE;dE;snRNPE", "protein_name": "Probable small nuclear ribonucleoprotein E", "disease": [ { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { 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"" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV5", "url": "https://www.uniprot.org/uniprotkb/Q9VLV5" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV5", "url": "https://www.uniprot.org/uniprotkb/Q9VLV5" } ], "pmid": "" }, { "name": "pICln-Sm protein complex", "id": "GO:0034715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034715", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV5", "url": "https://www.uniprot.org/uniprotkb/Q9VLV5" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV5", "url": "https://www.uniprot.org/uniprotkb/Q9VLV5" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", 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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: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:5076", "name": "mixed glioma", "description": "", "url": "https://disease-ontology.org/term/DOID:5076", "evidence": [ { "id": "5076", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5076" } ], "weight": 0.0 } ], "biological_process": [ { "name": "telomeric loop disassembly", "id": "GO:0090657", "url": 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"Myc;CG10798;D-Myc;DMYc;DM;Diminutive;Dmel\\CG10798;Dmel_CG10798;Dmyc;Dm;EG:BACN5I9.1;MYC;Myc;anon-WO03040301.171;bHLHe57;c-MYC;c-Myc;c-myc;cMyc;d-myc;dMYC;dMyc1;dMyc;dm/dMyc;dm/myc;dmyc1;dmyc;dm;l(1)G0139;l(1)G0354;l(1)G0359;myc", "protein_name": "Myc proto-oncogene protein", "disease": [ { "disease_id": "DOID:0001816", "name": "angiosarcoma", "description": "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.", "url": "https://disease-ontology.org/term/DOID:0001816", "evidence": [ { "id": "0001816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0001816" } ], "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 translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": 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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: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: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:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": 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"pmid": "" } ], "molecular_function": [ { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q9VQF9", "url": "https://www.uniprot.org/uniprotkb/Q9VQF9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQF9-1" }, { "uniprot_canonical_ac": "Q9VQS7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQS7", "url": "https://www.uniprot.org/uniprotkb/Q9VQS7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 578, "chemical_mass": 58455.0, "gene_names": "sob;CG3242;Dmel\\CG3242;SOB;Sob;org1;sob", "protein_name": "Protein sister of odd and bowel", "disease": [], "biological_process": [ { "name": "embryonic hindgut morphogenesis", "id": "GO:0048619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048619", 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"evidence": [ { "database": "UniProtKB", "id": "Q9VSF2", "url": "https://www.uniprot.org/uniprotkb/Q9VSF2" } ], "pmid": "" }, { "name": "pupal development", "id": "GO:0035209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035209", "evidence": [ { "database": "UniProtKB", "id": "Q9VSF2", "url": "https://www.uniprot.org/uniprotkb/Q9VSF2" } ], "pmid": "" }, { "name": "salivary gland histolysis", "id": "GO:0035070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035070", "evidence": [ { "database": "UniProtKB", "id": "Q9VSF2", "url": "https://www.uniprot.org/uniprotkb/Q9VSF2" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "Q9VSF2", "url": "https://www.uniprot.org/uniprotkb/Q9VSF2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 243, "chemical_mass": 28413.0, "gene_names": "se;CG6781;DmGSTO4;Dmel\\CG6781;GSTO1;GSTO4;Sepia;cg6781;dmgsto1;se", "protein_name": "Pyrimidodiazepine synthase", "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 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": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "Q9VSL3", "url": "https://www.uniprot.org/uniprotkb/Q9VSL3" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9VSL3", "url": "https://www.uniprot.org/uniprotkb/Q9VSL3" } ], "pmid": "" }, { "name": "glutathione dehydrogenase (ascorbate) activity", "id": "GO:0045174", 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"id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q9VSL3", "url": "https://www.uniprot.org/uniprotkb/Q9VSL3" } ], "pmid": "" }, { "name": "pteridine biosynthetic process", "id": "GO:0006728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006728", "evidence": [ { "database": "UniProtKB", "id": "Q9VSL3", "url": "https://www.uniprot.org/uniprotkb/Q9VSL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSL3-1" }, { "uniprot_canonical_ac": "Q9VSZ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 418, "chemical_mass": 46585.0, "gene_names": "CG3434;Dmel\\CG3434", "protein_name": "Queuine tRNA-ribosyltransferase accessory subunit 2", "disease": [], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ6" } ], "pmid": "" }, { "name": "tRNA-guanosine(34) queuine transglycosylase activity", "id": "GO:0008479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008479", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of mitochondrial outer membrane", "id": "GO:0032473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032473", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ6" } ], "pmid": "" }, { "name": "tRNA-guanine transglycosylase complex", "id": "GO:0120507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120507", "evidence": [ { "database": 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"plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" }, { "name": "ionotropic olfactory receptor activity", "id": "GO:0170020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170020", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT90-1" }, { "uniprot_canonical_ac": "Q9VTE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 962, "chemical_mass": 107625.0, "gene_names": "SuUR;CG7869;Dmel\\CG7869;Dromel_CG7869_FBtr0076203_suur_mORF;SU(UR);SUUR;Su(UR)ES;Su(UR);SuUR;su(UR)ES", "protein_name": "Protein suppressor of underreplication", "disease": [], "biological_process": [ { "name": "positive regulation of DNA endoreduplication", "id": "GO:0032877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032877", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated DNA replication", "id": "GO:2000104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000104", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" }, { "name": "DNA replication", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042023", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear replication fork", "id": "GO:0043596", "url": 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"" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "positive regulation of mitotic metaphase/anaphase transition", "id": "GO:0045842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045842", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": 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"id": "GO:0061729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061729", "evidence": [ { "database": "UniProtKB", "id": "Q9VTZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VTZ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTZ6-1" }, { "uniprot_canonical_ac": "Q9VU02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VU02", "url": "https://www.uniprot.org/uniprotkb/Q9VU02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 124, "chemical_mass": 13796.0, "gene_names": "SmD1;BcDNA:RE39488;CG10753;D1-Sm;Dmel\\CG10753;SmD1;dD1;l(2)SH3 003;l(3)SH003;smd1;snRNP-69D;snRNP69D;snRNP", "protein_name": "Probable small nuclear ribonucleoprotein Sm D1", "disease": [ { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the 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"Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" }, { "name": "ribosomal large subunit binding", "id": "GO:0043023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043023", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VW09-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Ser566", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" }, { "database": "PubMed", "id": "18327897", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" }, { "name": "L-arginine catabolic process to L-glutamate", "id": "GO:0019544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019544", "evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q9VW58", "url": "https://www.uniprot.org/uniprotkb/Q9VW58" } ], "pmid": "" }, { "name": "mitochondrial outer membrane translocase complex assembly", "id": "GO:0070096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070096", "evidence": [ { "database": "UniProtKB", "id": "Q9VW58", "url": "https://www.uniprot.org/uniprotkb/Q9VW58" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VW58-1" }, { "uniprot_canonical_ac": "Q9VW87-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 162, "chemical_mass": 17637.0, "gene_names": "Ssk;CG6981;CT21613;Dmel\\CG6981;Ssk;ssk", "protein_name": "Protein 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"uniprot_canonical_ac": "Q9VYM3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYM3", "url": "https://www.uniprot.org/uniprotkb/Q9VYM3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 699, "chemical_mass": 80084.0, "gene_names": "Mks1;B9d3;CG15730;Dmel\\CG15730;MKS1;Mks1;dMks1;mks1", "protein_name": "Tectonic-like complex member Mks1", "disease": [ { "disease_id": "DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.", "url": "https://disease-ontology.org/term/DOID:0050651", "evidence": [ { "id": "0050651", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1905350", "evidence": [ { "database": "UniProtKB", "id": "Q9VYM3", "url": "https://www.uniprot.org/uniprotkb/Q9VYM3" } ], "pmid": "" } ], "cellular_component": [ { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9VYM3", "url": "https://www.uniprot.org/uniprotkb/Q9VYM3" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q9VYM3", "url": "https://www.uniprot.org/uniprotkb/Q9VYM3" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q9VYM3", "url": "https://www.uniprot.org/uniprotkb/Q9VYM3" } ], "pmid": "" }, { "name": "ciliary cap", "id": "GO:0061822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061822", 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Spermatocytes display various defects during early meiotic stages, post-meiotic stages and late spermatogenesis. Defects in early meiotic stages result in karyokinesis and cytokinesis abnormailities and a failure to complete meiosis I. 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region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q1", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q1" } ], "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": "Q9W2Q1", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W2Q1-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Thr194", "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": 194, "start_aa": "Thr", "end_pos": 194, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr194", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9W2Q1-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Thr382", "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": 382, "start_aa": "Thr", "end_pos": 382, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr382", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9W2Q1-1", "start_pos": "833", "end_pos": "833", "site_lbl": "Thr833", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1903862", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "positive regulation of heart contraction", "id": "GO:0045823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045823", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "[2Fe-2S] cluster assembly", "id": "GO:0044571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044571", "evidence": [ { "database": "UniProtKB", "id": "Q9W385", "url": "https://www.uniprot.org/uniprotkb/Q9W385" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": 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"record_id": "Q9W5R8-1" }, { "uniprot_canonical_ac": "Q9W5Y0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprotkb/Q9W5Y0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 786, "chemical_mass": 89759.0, "gene_names": "Nep3;CEC;CG9565;DmeNEP3;Dmel\\CG9565;NEP3;Nep3;dNEP3;nep3", "protein_name": "Neprilysin-3", "disease": [ { "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:10652", "name": "Alzheimer's 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"name": "hereditary hemorrhagic telangiectasia", "description": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.", "url": "https://disease-ontology.org/term/DOID:1270", "evidence": [ { "id": "1270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1270" } ], "weight": 0.0 }, { "disease_id": "DOID:13129", "name": "severe pre-eclampsia", "description": "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.", "url": "https://disease-ontology.org/term/DOID:13129", "evidence": [ { "id": "13129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13129" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "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:1405", "name": "primary angle-closure glaucoma", "description": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "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: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: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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "transmembrane receptor protein serine/threonine kinase activity", "id": "GO:0004675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004675", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity, type I", "id": "GO:0005025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005025", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP receptor activity", "id": "GO:0098821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098821", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP binding", "id": "GO:0036122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036122", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP receptor complex", "id": "GO:0070724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070724", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "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": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "maternal determination of anterior/posterior axis, embryo", "id": "GO:0008358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008358", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification, imaginal disc", "id": "GO:0007448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007448", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K7J3-1" }, { "uniprot_canonical_ac": "A0A0B4K7M8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7M8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7M8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 120, "chemical_mass": 13161.0, "gene_names": "CG13169;Dmel\\CG43315;CG13169;CG43315;Dmel\\CG43315;Dmel_CG43315", "protein_name": "Seminal fluid protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K7M8-1" }, { "uniprot_canonical_ac": "A0A0B4K7Q6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2008, "chemical_mass": 230672.0, "gene_names": "mbc;CED-5;CG10379;DOCK180;Dm MBC;Dmel\\CG10379;Dmel_CG10379;Dock180;MBC/DOCK180;MBC;Mbc;Su(rac)1;dock180;mbc", "protein_name": "", "disease": [ { "disease_id": "DOID:0111951", "name": "immunodeficiency 40", "description": "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.", "url": "https://disease-ontology.org/term/DOID:0111951", "evidence": [ { "id": "0111951", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111951" } ], "weight": 0.0 }, { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": "https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "larval visceral muscle development", "id": "GO:0007523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007523", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 330, "chemical_mass": 37227.0, "gene_names": "Dmel\\CG5554;CG5554;Dmel\\CG5554;Dmel_CG5554", "protein_name": "Thioredoxin-related transmembrane protein 1", "disease": [], "molecular_function": [ { "name": "disulfide oxidoreductase activity", "id": "GO:0015036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015036", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LHC9", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LHC9" } ], "pmid": "" }, { "name": "protein-disulfide reductase activity", "id": "GO:0015035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015035", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LHC9", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LHC9" } ], "pmid": "" }, { "name": "protein disulfide isomerase activity", "id": "GO:0003756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003756", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LHC9", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030727", "evidence": [ { "database": "UniProtKB", "id": "E2QD16", "url": "https://www.uniprot.org/uniprotkb/E2QD16" } ], "pmid": "" }, { "name": "larval somatic muscle development", "id": "GO:0007526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007526", "evidence": [ { "database": "UniProtKB", "id": "E2QD16", "url": "https://www.uniprot.org/uniprotkb/E2QD16" } ], "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": "E2QD16", "url": "https://www.uniprot.org/uniprotkb/E2QD16" } ], "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": "E2QD16", "url": "https://www.uniprot.org/uniprotkb/E2QD16" } ], "pmid": "" }, { "name": "attachment of spindle 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"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": 47, "start_aa": "Thr", "end_pos": 47, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "E2QD16-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "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": 550, "start_aa": "Thr", "end_pos": 550, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr550", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "E2QD16-1" }, { "uniprot_canonical_ac": "A1Z9J3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 8805, "chemical_mass": 989549.0, "gene_names": "shot;42/4;4;CG18076;CG18637;Dmel\\CG18076;Dmel_CG18076;EN2-12;Grv;Kak;Shot;Su(Mir)1;grv;kakapo;kakp;kak;kop;l(2)CA4;l(2)k03010;l(2)k04204;l(2)k05434;l(2)k05821;l(2)k10821;l(2)k15606;shortstop/kakapo;shot", "protein_name": "", "disease": [ { "disease_id": "DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. 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"" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": 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"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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "mismatched DNA binding", "id": "GO:0030983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030983", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": 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"database": "UniProtKB", "id": "E1JIZ9", "url": "https://www.uniprot.org/uniprotkb/E1JIZ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 651, "chemical_mass": 69812.0, "gene_names": "trv;BcDNA:RE10833;CG12870;CG12872;CG34362;Dmel\\CG34362;Dmel_CG34362;Tia1-like;trv", "protein_name": "", "disease": [ { "disease_id": "DOID:0081380", "name": "amyotrophic lateral sclerosis type 26", "description": "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0081380", "evidence": [ { "id": "0081380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081380" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": 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"id": "E1JIZ9", "url": "https://www.uniprot.org/uniprotkb/E1JIZ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E1JIZ9-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "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": 557, "start_aa": "Thr", "end_pos": 557, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "E1JIZ9-1" }, { "uniprot_canonical_ac": "A8JRD0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1076, "chemical_mass": 119060.0, "gene_names": "LpR1;CG31094;CG31095;CG4861;CG4870;CG4874;CT15569;Dmel\\CG31094;Dmel_CG31094;LpR1;lpr1", "protein_name": "", "disease": [ { "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: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:0070556", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1", "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.", "url": "https://disease-ontology.org/term/DOID:0070556", "evidence": [ { "id": "0070556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070556" } ], "weight": 0.0 }, { "disease_id": "DOID:0110014", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.", "url": "https://disease-ontology.org/term/DOID:0110014", "evidence": [ { "id": "0110014", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110014" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:12783", "name": "migraine without aura", "description": "A migraine that is characterized by migraine headaches that are not accompanied by an aura.", "url": "https://disease-ontology.org/term/DOID:12783", "evidence": [ { "id": "12783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12783" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "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: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:3345", "name": "xanthomatosis", "description": "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.", "url": "https://disease-ontology.org/term/DOID:3345", "evidence": [ { "id": "3345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3345" } ], "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: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: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: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: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", 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"molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S1", "url": "https://www.uniprot.org/uniprotkb/A1Z6S1" } ], "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": "A1Z6S1", "url": "https://www.uniprot.org/uniprotkb/A1Z6S1" } ], "pmid": "" }, { "name": "detection of pheromone", "id": "GO:0043695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043695", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S1", "url": "https://www.uniprot.org/uniprotkb/A1Z6S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6S1-1" }, { "uniprot_canonical_ac": "A1Z6S4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium-activated cation channel activity", "id": "GO:0005227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005227", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" }, { "name": "ligand-gated sodium channel activity", "id": "GO:0015280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015280", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" }, { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6S4-1" }, { "uniprot_canonical_ac": "A1Z7G6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 429, "chemical_mass": 49153.0, "gene_names": "AAF59068;AAF59068;CG8642;Dmel\\CG8642;Dmel_CG8642;FBpp0087808", "protein_name": "Fibrinogen C-terminal domain-containing protein", "disease": [ { "disease_id": "DOID:2236", "name": "congenital afibrinogenemia", "description": "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7G6-1" }, { "uniprot_canonical_ac": "A1Z7I2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "common_name": 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"A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium:sodium antiporter activity", "id": "GO:0005432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005432", "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7I2-1" }, { "uniprot_canonical_ac": "A1Z7M5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 43186.0, "gene_names": "SP67;CG13744;Dmel\\CG13744;Dmel_CG13744;SP67;c-SP67;cSP67", "protein_name": "Peptidase S1 domain-containing protein", "disease": [ { "disease_id": "DOID:0080600", "name": 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} ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7M5-1" }, { "uniprot_canonical_ac": "A1Z7M6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7M6", "url": "https://www.uniprot.org/uniprotkb/A1Z7M6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 222, "chemical_mass": 24679.0, "gene_names": "Dmel\\CG13747;CG13747;Dmel\\CG13747;Dmel_CG13747;dmCG13747", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M6", "url": "https://www.uniprot.org/uniprotkb/A1Z7M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7M6-1" }, { "uniprot_canonical_ac": "A1Z7R6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 519, "chemical_mass": 56997.0, "gene_names": "SLC46;CG8046;Dmel\\CG8046;Dmel_CG8046;SLC46", "protein_name": "Probable peptidoglycan muropeptide transporter SLC46", "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 } ], "biological_process": [ { "name": "positive regulation of antimicrobial humoral response", "id": "GO:0002760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002760", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "peptidoglycan transport", "id": "GO:0015835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015835", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "positive regulation of peptidoglycan recognition protein signaling pathway", "id": "GO:0061059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061059", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "peptidoglycan transmembrane transporter activity", "id": "GO:0015647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015647", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7R6-1" }, { "uniprot_canonical_ac": "A1Z7S4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 322, "chemical_mass": 36082.0, "gene_names": "anon-WO0242455.53;CG8026;Dmel\\CG8026;Dmel_CG8026;Dromel_CG8026_FBtr0088611_mORF;anon-WO0242455.53;anon-WO0242455.6;anon-WO0242455.7", "protein_name": "Mitochondrial folate transporter/carrier", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "FAD transmembrane transporter activity", "id": "GO:0015230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015230", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7S4-1" }, { "uniprot_canonical_ac": "A1Z7Z4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z4", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 232, "chemical_mass": 24220.0, "gene_names": "Dmel\\CG1648;CG1648;Dmel\\CG1648;Dmel_CG1648", "protein_name": "Late embryogenesis abundant protein ECP63", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7Z4-1" }, { "uniprot_canonical_ac": "E1JH26-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 264, "chemical_mass": 27936.0, "gene_names": "Ccs;CCD;CCS;CG-17753;CG17753;Ccs;DmCCS;Dmel\\CG17753;Dmel_CG17753;anon-EST:Posey231;dCCS;l(2)03221", "protein_name": "Copper chaperone for superoxide dismutase", "disease": [ { "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:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "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": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" } ], "molecular_function": [ { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" }, { "name": "superoxide dismutase copper chaperone activity", "id": "GO:0016532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016532", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" }, { "name": "superoxide dismutase activity", "id": "GO:0004784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004784", "evidence": [ { "database": "UniProtKB", "id": "E1JH26", "url": "https://www.uniprot.org/uniprotkb/E1JH26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1JH26-1" }, { "uniprot_canonical_ac": "A1Z8C4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 141, "chemical_mass": 16440.0, "gene_names": "Lsm10;CG12938;Dmel\\CG12938;Dmel_CG12938;Lsm10;dLsm10", "protein_name": "", "disease": [], "biological_process": [ { "name": "7-methylguanosine cap hypermethylation", "id": "GO:0036261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036261", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "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": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" }, { "name": "nuclear histone mRNA catabolic process", "id": "GO:0071045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071045", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" }, { "name": "histone locus body", "id": "GO:0035363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035363", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" }, { "name": "cytoplasmic U snRNP body", "id": "GO:0071254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071254", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone pre-mRNA DCP binding", "id": "GO:0071208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071208", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" }, { "name": "U7 snRNA binding", "id": "GO:0071209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071209", "evidence": [ { "database": "UniProtKB", "id": "A1Z8C4", "url": "https://www.uniprot.org/uniprotkb/A1Z8C4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z8C4-1" } ]