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development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { "name": "positive regulation of apoptotic DNA fragmentation", "id": "GO:1902512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902512", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], 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"name": "cellular response to unfolded protein", "id": "GO:0034620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034620", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { "name": "cellular response to diamide", "id": "GO:0072738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072738", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { "name": "cellular response to sodium arsenite", "id": "GO:1903936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903936", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P38532", "url": "https://www.uniprot.org/uniprotkb/P38532" } ], "pmid": "" }, { 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has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:0050868", "evidence": [ { "id": "0050868", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:1099", "name": "alpha thalassemia", "description": "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.", "url": "https://disease-ontology.org/term/DOID:1099", "evidence": [ { "id": "1099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "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 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61646", "url": "https://www.uniprot.org/uniprotkb/Q61646" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": 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"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": "glucokinase activity", "id": "GO:0004340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004340", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "fructokinase activity", "id": "GO:0008865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008865", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "hexokinase activity", "id": "GO:0004396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004396", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "D-glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "phosphotransferase activity, alcohol group as acceptor", "id": "GO:0016773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016773", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of mitochondrial membrane permeability", "id": "GO:0035795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035795", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "regulation of D-glucose import", "id": "GO:0046324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046324", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "establishment of protein localization to mitochondrion", "id": "GO:0072655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072655", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "maintenance of protein location in mitochondrion", "id": "GO:0072656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072656", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "carbohydrate 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{ "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "O08528", "url": "https://www.uniprot.org/uniprotkb/O08528" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08528-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Thr473", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O08528", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08528" }, { "database": "PubMed", "id": "29985480", "url": "https://glygen.org/publication/PubMed/29985480" } ] } ] }, { "uniprot_canonical_ac": "O08528-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ile114", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "6", "chr_pos": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "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: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:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:12662", "name": "paracoccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.", "url": "https://disease-ontology.org/term/DOID:12662", "evidence": [ { "id": "12662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12662" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "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: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: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: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: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: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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID: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:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. 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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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 }, { "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: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:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "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:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8677", "name": 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"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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as 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"https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "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": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "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": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "T-helper 1 type immune response", "id": "GO:0042088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042088", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of pain", "id": "GO:0050966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "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": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "natural killer cell activation", "id": "GO:0030101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030101", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "neutrophil activation", "id": "GO:0042119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042119", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of granulocyte macrophage colony-stimulating factor production", "id": "GO:0032725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032725", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050732", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell cytokine production", "id": "GO:2000556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000556", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of T-helper 2 cell differentiation", "id": "GO:0045630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045630", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of male germ cell proliferation", "id": "GO:2000256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000256", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell proliferation", "id": "GO:0032819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032819", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "negative regulation of neutrophil apoptotic process", "id": "GO:0033030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033030", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P70380", "url": "https://www.uniprot.org/uniprotkb/P70380" } ], "pmid": "" } ], "cellular_component": [ { "name": 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This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. 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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "biological_process": [ { "name": "B cell activation involved in immune response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "P01573", "url": "https://www.uniprot.org/uniprotkb/P01573" } ], "pmid": "" } ], 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"name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70139", "url": "https://www.uniprot.org/uniprotkb/O70139" } ], "pmid": "" } ], "molecular_function": [ { "name": "cAMP-dependent protein kinase inhibitor activity", "id": "GO:0004862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004862", "evidence": [ { "database": "UniProtKB", "id": "O70139", "url": "https://www.uniprot.org/uniprotkb/O70139" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P02831-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 443, "chemical_mass": 46430.0, "gene_names": "Hoxa3;Hox-1.5;Hoxa-3;Hoxa3;Mo-10", "protein_name": "Homeobox protein Hox-A3", "disease": [ { "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 } ], "biological_process": [ { "name": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "parathyroid gland development", "id": "GO:0060017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060017", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "glossopharyngeal nerve morphogenesis", "id": "GO:0021615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021615", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "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": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "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": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "animal organ formation", "id": "GO:0048645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048645", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": "https://www.uniprot.org/uniprotkb/P02831" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P02831", "url": 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. 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"database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "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": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { 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"UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "lung goblet cell differentiation", "id": "GO:0060480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060480", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "mammary gland epithelial cell differentiation", "id": "GO:0060644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060644", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "regulation of mammary gland epithelial cell proliferation", "id": "GO:0033599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033599", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "lobar bronchus epithelium development", "id": "GO:0060481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060481", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "positive regulation of myeloid cell differentiation", "id": "GO:0045639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045639", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "negative regulation of erythrocyte differentiation", "id": "GO:0045647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045647", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "cartilage morphogenesis", "id": "GO:0060536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "lung-associated mesenchyme development", "id": "GO:0060484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "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": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "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": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "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": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09021", "url": "https://www.uniprot.org/uniprotkb/P09021" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P09023-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 224, "chemical_mass": 25310.0, "gene_names": "Hoxb6;Hox-2.2;Hoxb-6;Hoxb6", "protein_name": "Homeobox protein Hox-B6", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "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": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" }, { "name": "erythrocyte homeostasis", "id": "GO:0034101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034101", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "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": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P09023-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P09023", "url": "https://www.uniprot.org/uniprotkb/P09023" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P09023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09023" }, { "database": "PubMed", "id": "10327653", "url": "https://glygen.org/publication/PubMed/10327653" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P09235-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09235", "url": "https://www.uniprot.org/uniprotkb/P09235" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 190, "chemical_mass": 21684.0, "gene_names": "Ifna9;If1ai3;Ifa9;Ifna9", "protein_name": "Interferon alpha-9", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. 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extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "positive regulation of microtubule nucleation", "id": "GO:0090063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090063", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "cellular heat acclimation", "id": "GO:0070370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070370", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" }, { "name": "ATP-dependent protein disaggregase activity", "id": "GO:0140545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140545", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": "https://www.uniprot.org/uniprotkb/P17879" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P17879", "url": 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"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: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:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "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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"osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "positive regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043568", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell apoptotic process", "id": "GO:0010666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "positive regulation of apoptotic DNA fragmentation", "id": "GO:1902512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902512", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "type B pancreatic cell proliferation", "id": "GO:0044342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044342", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043567", "evidence": [ { "database": "UniProtKB", "id": "P47878", "url": "https://www.uniprot.org/uniprotkb/P47878" } ], "pmid": "" }, { "name": "negative regulation of testosterone secretion", "id": "GO:2000844", "url": 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"https://disease-ontology.org/term/DOID:1284", "evidence": [ { "id": "1284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1284" } ], "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: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 } ], "biological_process": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "regulation of follicle-stimulating hormone secretion", "id": "GO:0046880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046880", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of 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regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "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": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "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": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "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": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "androgen metabolic process", "id": "GO:0008209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008209", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "negative regulation of activin receptor signaling pathway", "id": "GO:0032926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032926", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase 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"cellular response to oxygen-glucose deprivation", "id": "GO:0090650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090650", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "testosterone biosynthetic process", "id": "GO:0061370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "response to aldosterone", "id": "GO:1904044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904044", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "hemoglobin biosynthetic process", "id": "GO:0042541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042541", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "progesterone secretion", "id": "GO:0042701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042701", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "GABAergic neuron differentiation", "id": "GO:0097154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097154", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "negative regulation of hair follicle development", "id": "GO:0051799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051799", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "striatal medium spiny neuron differentiation", "id": "GO:0021773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021773", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "Sertoli cell differentiation", "id": "GO:0060008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060008", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "mesodermal cell differentiation", "id": "GO:0048333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048333", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": "https://www.uniprot.org/uniprotkb/Q04998" } ], "pmid": "" }, { "name": "cardiac fibroblast cell development", "id": "GO:0060936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060936", "evidence": [ { "database": "UniProtKB", "id": "Q04998", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "positive regulation of transmission of nerve impulse", "id": "GO:0051971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051971", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of pain", "id": "GO:0050966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "substrate-dependent cell migration", "id": "GO:0006929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006929", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "hepatocyte differentiation", "id": "GO:0070365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070365", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "response to amine", "id": "GO:0014075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014075", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q62469", "url": "https://www.uniprot.org/uniprotkb/Q62469" } ], "pmid": "" }, { "name": 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"GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "hemidesmosome", "id": "GO:0030056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuregulin binding", "id": "GO:0038132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038132", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "A2A863", "url": "https://www.uniprot.org/uniprotkb/A2A863" } ], "pmid": "" }, { "name": "metal ion binding", "id": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110741" } ], "weight": 0.0 }, { "disease_id": "DOID:0111108", "name": "maturity-onset diabetes of the young type 10", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.", "url": "https://disease-ontology.org/term/DOID:0111108", "evidence": [ { "id": "0111108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111108" } ], "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, 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"name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "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": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "regulation of protein secretion", "id": "GO:0050708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050708", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000059", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine maintenance", "id": "GO:1902952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902952", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "negative regulation of respiratory burst involved in inflammatory response", "id": "GO:0060266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060266", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "regulation of phosphorylation", "id": "GO:0042325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042325", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide mediated signal transduction", "id": "GO:0010750", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "P01326", "url": "https://www.uniprot.org/uniprotkb/P01326" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": 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"taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61703", "url": "https://www.uniprot.org/uniprotkb/Q61703" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 946, "chemical_mass": 105928.0, "gene_names": "Itih2;ITI-HC2;Intin2;Itih-2;Itih2", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H2", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q61703", "url": "https://www.uniprot.org/uniprotkb/Q61703" } ], "pmid": "" }, { "name": "hyaluronic acid binding", "id": "GO:0005540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005540", "evidence": [ { "database": "UniProtKB", "id": "Q61703", "url": "https://www.uniprot.org/uniprotkb/Q61703" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", 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"disease_id": "DOID:0081153", "name": "common variable immunodeficiency 11", "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27.", "url": "https://disease-ontology.org/term/DOID:0081153", "evidence": [ { "id": "0081153", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081153" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "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: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: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: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:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3388", "name": "periodontal disease", "description": "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.", "url": "https://disease-ontology.org/term/DOID:3388", "evidence": [ { "id": "3388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3388" } ], "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: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:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "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": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "germinal center B cell differentiation", "id": "GO:0002314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002314", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of B cell differentiation", "id": "GO:0045579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045579", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "tyrosine phosphorylation of STAT protein", "id": "GO:0007260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007260", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell differentiation", "id": "GO:0032825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032825", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell cytokine production", "id": "GO:0002729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002729", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "T follicular helper cell differentiation", "id": "GO:0061470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061470", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "interleukin-2 receptor binding", "id": "GO:0005134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005134", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprotkb/Q9ES17" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ES17-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Asn85", "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": 85, "start_aa": "Asn", "end_pos": 85, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn85", "evidence": [ { "id": "Q9ES17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ES17#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P0C872-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35917.0, "gene_names": "Jmjd7;Jmjd7", "protein_name": "Bifunctional peptidase and (3S)-lysyl hydroxylase Jmjd7", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "aminopeptidase activity", "id": "GO:0004177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004177", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "2-oxoglutarate-dependent dioxygenase activity", "id": "GO:0016706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016706", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "peptidyl-lysine 3-dioxygenase activity", "id": "GO:0106155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106155", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" }, { "name": "protein hydroxylation", "id": "GO:0018126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018126", "evidence": [ { "database": "UniProtKB", "id": "P0C872", "url": "https://www.uniprot.org/uniprotkb/P0C872" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P56477-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 497, "chemical_mass": 56005.0, "gene_names": "Irf5;Irf5;mirf5", "protein_name": "Interferon regulatory factor 5", "disease": [ { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0110895", "name": "inflammatory bowel disease 14", "description": "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32.", "url": "https://disease-ontology.org/term/DOID:0110895", "evidence": [ { "id": "0110895", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110895" } ], "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": "https://www.alliancegenome.org/disease/DOID:13603" } ], "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: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: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: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: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:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "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 } ], "biological_process": [ { "name": "nucleotide-binding oligomerization domain containing 2 signaling pathway", "id": "GO:0070431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070431", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "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": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "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": "P56477", "url": "https://www.uniprot.org/uniprotkb/P56477" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P56477", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ], "pmid": "" }, { "name": "integrator complex", "id": "GO:0032039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032039", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ], "pmid": "" }, { "name": "INTAC complex", "id": "GO:0160232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160232", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8QZV7-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Ser623", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ] } ] }, { "uniprot_canonical_ac": "Q8QZV7-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Ser626", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ] } ] }, { "uniprot_canonical_ac": "Q8QZV7-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV7", "url": "https://www.uniprot.org/uniprotkb/Q8QZV7" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q8K4B4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 644, "chemical_mass": 73453.0, "gene_names": "Il23r;IL-23R;Il23r", "protein_name": "Interleukin-23 receptor", "disease": [ { "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:0110883", "name": "inflammatory bowel disease 17", "description": "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3.", "url": "https://disease-ontology.org/term/DOID:0110883", "evidence": [ { "id": "0110883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110883" } ], "weight": 0.0 }, { "disease_id": "DOID:0111279", "name": "psoriasis 7", "description": "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R.", "url": "https://disease-ontology.org/term/DOID:0111279", "evidence": [ { "id": "0111279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111279" } ], "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:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID: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:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "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:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "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": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "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": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "leukocyte mediated immunity", "id": "GO:0002443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002443", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 type immune response", "id": "GO:0002827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002827", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "interleukin-23-mediated signaling pathway", "id": "GO:0038155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038155", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" } ], "molecular_function": [ { "name": "interleukin-12 receptor binding", "id": "GO:0005143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005143", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "prolactin receptor activity", "id": "GO:0004925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004925", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "interleukin-23 binding", "id": "GO:0042019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042019", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "interleukin-23 receptor activity", "id": "GO:0042020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042020", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": "https://www.uniprot.org/uniprotkb/Q8K4B4" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B4", "url": 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"Lys438", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94950455", "evidence": [ { "id": "rs3389196942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389196942" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Pro447", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94950427", "evidence": [ { "id": "rs3389192964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389192964" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Pro478", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94950189", "evidence": [ { "id": "rs3389187612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389187612" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94950190", "evidence": [ { "id": "rs3389193569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389193569" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Glu495", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94949093", "evidence": [ { "id": "rs259797975", "database": "dbSNP", "url": 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"Q62470-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Glu520", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94948912", "evidence": [ { "id": "rs3389208310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208310" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94948860", "evidence": [ { "id": "rs228958756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228958756" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Gly542", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94948845", "evidence": [ { "id": "rs3389193036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389193036" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94948836", "evidence": [ { "id": "rs3389182448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389182448" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Met628", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: 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"id": "rs3389202621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202621" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Val689", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94947538", "evidence": [ { "id": "rs3389208330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208330" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Leu703", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94947304", "evidence": [ { "id": "rs3389187685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389187685" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Asn708", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94947289", "evidence": [ { "id": "rs3389198469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389198469" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Leu737", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94946698", "evidence": [ { "id": "rs3389191889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389191889" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Ala764", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94946534", "evidence": [ { "id": "rs3389208340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208340" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Glu784", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94944956", "evidence": [ { "id": "rs3389208303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208303" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "790", "end_pos": "790", "site_lbl": 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mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94944562", "evidence": [ { "id": "rs3389191898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389191898" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Gln885", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94944108", "evidence": [ { "id": "rs239688344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239688344" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Ala895", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389192914" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "923", "end_pos": "923", "site_lbl": "Thr923", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94943329", "evidence": [ { "id": "rs3389169290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389169290" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Val929", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94943310", "evidence": [ { "id": "rs3389202619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202619" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "946", "end_pos": "946", "site_lbl": "Asp946", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94942367", "evidence": [ { "id": "rs3389169253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389169253" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Asp948", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "94942359", "evidence": [ { "id": "rs3389169219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389169219" } ] } ] }, { "uniprot_canonical_ac": "Q62470-1", "start_pos": "958", "end_pos": "958", "site_lbl": 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"description": "An allergic disease that is triggered by a drug.", "url": "https://disease-ontology.org/term/DOID:0060500", "evidence": [ { "id": "0060500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060500" } ], "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:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": 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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:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "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: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: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:1884", "name": "viral hepatitis", "description": "A hepatitis that involves viral infection causing inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:1884", "evidence": [ { "id": "1884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1884" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "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: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8506", "name": "bullous pemphigoid", "description": "A pemphigoid that is characterized by large blisters.", "url": "https://disease-ontology.org/term/DOID:8506", "evidence": [ { "id": "8506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8506" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "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:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:905", "name": "Zellweger syndrome", "description": "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.", "url": "https://disease-ontology.org/term/DOID:905", "evidence": [ { "id": "905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:905" } ], "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: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: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 } ], "biological_process": [ { "name": "leukocyte activation involved in immune response", "id": "GO:0002366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002366", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "interleukin-2-mediated signaling pathway", "id": "GO:0038110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038110", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "regulation of T cell homeostatic proliferation", "id": "GO:0046013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046013", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "negative regulation of T-helper 17 cell differentiation", "id": "GO:2000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000320", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "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": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "P04351", "url": "https://www.uniprot.org/uniprotkb/P04351" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": 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"V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761151", "evidence": [ { "id": "rs231991080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231991080" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761156", "evidence": [ { "id": "rs45877063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45877063" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761148", "evidence": [ { "id": "rs3544896097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896097" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Gln110", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761152", "evidence": [ { "id": "rs31821571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31821571" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Val111", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761151", "evidence": [ { "id": "rs231991080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231991080" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ser112", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761148", "evidence": [ { "id": "rs3544896097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896097" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Thr114", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761142", "evidence": [ { "id": "rs3544896207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896207" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Glu116", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761136", "evidence": [ { "id": "rs3544841626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544841626" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Glu117", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761133", "evidence": [ { "id": "rs3388865915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865915" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Gln119", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761126", "evidence": [ { "id": "rs3544808979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544808979" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ala120", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761123", "evidence": [ { "id": "rs3544908180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544908180" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Cys122", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761118", "evidence": [ { "id": "rs1134647544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134647544" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Gly123", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761105", "evidence": [ { "id": "rs31821570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31821570" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Gly126", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761105", "evidence": [ { "id": "rs31821570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31821570" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ala127", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761103", "evidence": [ { "id": "rs3544839027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839027" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Glu137", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128761072", "evidence": [ { "id": "rs3388854843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854843" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Pro13", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128765408", "evidence": [ { "id": "rs227405141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227405141" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Leu142", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760732", "evidence": [ { "id": "rs212004345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212004345" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asp143", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760730", "evidence": [ { "id": "rs3544809117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809117" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Glu147", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760718", "evidence": [ { "id": "rs243033360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243033360" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Lys148", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760713", "evidence": [ { "id": "rs233650605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233650605" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Asn150", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760708", "evidence": [ { "id": "rs214273494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214273494" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Phe152", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760684", "evidence": [ { "id": "rs31820672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31820672" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Arg157", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760686", "evidence": [ { "id": "rs3544809945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809945" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Phe158", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128760684", "evidence": [ { "id": "rs31820672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31820672" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Thr15", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128765401", "evidence": [ { "id": "rs3388862612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862612" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Val177", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757372", "evidence": [ { "id": "rs3397342755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397342755" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Thr181", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757378", "evidence": [ { "id": "rs46089752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46089752" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Val183", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757372", "evidence": [ { "id": "rs3397342755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397342755" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ala18", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128765392", "evidence": [ { "id": "rs264779711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264779711" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757349", "evidence": [ { "id": "rs45887139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45887139" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757349", "evidence": [ { "id": "rs45887139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45887139" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Leu193", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757342", "evidence": [ { "id": "rs46988116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46988116" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Pro199", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757325", "evidence": [ { "id": "rs46499221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46499221" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Trp19", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128765389", "evidence": [ { "id": "rs226961238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226961238" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128765390", "evidence": [ { "id": "rs238499420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238499420" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757310", "evidence": [ { "id": "rs48168662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48168662" } ] } ] }, { "uniprot_canonical_ac": "P27814-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Cys202", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128757314", "evidence": [ { "id": "rs585499057", "database": "dbSNP", "url": 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(SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080827", "name": "human cytomegalovirus infection", "description": "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).", "url": "https://disease-ontology.org/term/DOID:0080827", "evidence": [ { "id": "0080827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080827" } ], "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: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: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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2366", "name": "West Nile fever", "description": "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:2366", "evidence": [ { "id": "2366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2366" } ], "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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4166", "name": "syphilis", "description": "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.", "url": "https://disease-ontology.org/term/DOID:4166", "evidence": [ { "id": "4166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ], "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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening 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. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "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: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 } ], "biological_process": [ { "name": "immune response-inhibiting cell surface receptor signaling pathway", "id": "GO:0002767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002767", "evidence": [ { "database": "UniProtKB", "id": "P83555", "url": "https://www.uniprot.org/uniprotkb/P83555" } ], "pmid": "" } ], "molecular_function": [ { "name": "MHC class Ib receptor activity", "id": "GO:0032394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032394", "evidence": [ { "database": "UniProtKB", "id": "P83555", "url": "https://www.uniprot.org/uniprotkb/P83555" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P83555", "url": "https://www.uniprot.org/uniprotkb/P83555" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": 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"P83555-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Asn44", "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": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "P83555", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P83555#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q17ST2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q17ST2", "url": "https://www.uniprot.org/uniprotkb/Q17ST2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 489, "chemical_mass": 53948.0, "gene_names": 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], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "Q6PCM1", "url": "https://www.uniprot.org/uniprotkb/Q6PCM1" } ], "pmid": "" }, { "name": "androgen receptor signaling pathway", "id": "GO:0030521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030521", "evidence": [ { "database": "UniProtKB", "id": "Q6PCM1", "url": "https://www.uniprot.org/uniprotkb/Q6PCM1" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q6PCM1", "url": "https://www.uniprot.org/uniprotkb/Q6PCM1" } ], "pmid": "" }, { "name": "regulation of stem cell population maintenance", "id": "GO:2000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000036", "evidence": [ { "database": "UniProtKB", "id": "Q6PCM1", "url": 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214, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn214", "evidence": [ { "id": "B2KG20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2KG20#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "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": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "evidence": [ { "id": "B2KG20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B2KG20#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDS->NDL); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129674362", "evidence": [ { "id": "rs3388828865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388828865" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "221", "end_pos": "221", "site_lbl": "His221", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NHS->NPS); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129674347", "evidence": [ { "id": "rs3544821999", "database": "dbSNP", "url": 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"Lys239", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KKS->NKS); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129674292", "evidence": [ { "id": "rs3544853265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544853265" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Leu104", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129680343", "evidence": [ { "id": "rs3388862634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862634" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Phe105", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129680341", "evidence": [ { "id": "rs3388862702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862702" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Thr115", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129680311", "evidence": [ { "id": "rs3545032068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545032068" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ala11", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129694054", "evidence": [ { "id": "rs3397418605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397418605" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ala127", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675890", "evidence": [ { "id": "rs5527836165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527836165" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asn142", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675843", "evidence": [ { "id": "rs5527836204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527836204" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Phe143", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675840", "evidence": [ { "id": "rs3544951055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544951055" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Phe147", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675829", "evidence": [ { "id": "rs3544822475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544822475" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Lys148", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675827", "evidence": [ { "id": "rs3544905325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544905325" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675826", "evidence": [ { "id": "rs3544857103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544857103" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Glu156", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675801", "evidence": [ { "id": "rs3544853839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544853839" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Ala175", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675745", "evidence": [ { "id": "rs3544822537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544822537" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Val177", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675740", "evidence": [ { "id": "rs3544857095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544857095" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675740", "evidence": [ { "id": "rs3544857095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544857095" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Thr17", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129694037", "evidence": [ { "id": "rs3544822489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544822489" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Glu184", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675208", "evidence": [ { "id": "rs3544976210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544976210" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Asp186", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675203", "evidence": [ { "id": "rs3544976457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544976457" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ile189", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675193", "evidence": [ { "id": "rs3545032137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545032137" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Lys192", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675184", "evidence": [ { "id": "rs3544818815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544818815" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Gly195", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675175", "evidence": [ { "id": "rs3544859613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544859613" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Thr196", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675173", "evidence": [ { "id": "rs3388867522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867522" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Ser198", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675165", "evidence": [ { "id": "rs3397350628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397350628" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Trp200", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675161", "evidence": [ { "id": "rs3544821553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544821553" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Arg203", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675152", "evidence": [ { "id": "rs3544950948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544950948" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675151", "evidence": [ { "id": "rs3544950750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544950750" } ] } ] }, { "uniprot_canonical_ac": "B2KG20-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Asp205", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129675146", "evidence": [ { "id": "rs3544853772", "database": "dbSNP", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "Q01768", "url": "https://www.uniprot.org/uniprotkb/Q01768" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q01768", "url": "https://www.uniprot.org/uniprotkb/Q01768" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q01768", "url": "https://www.uniprot.org/uniprotkb/Q01768" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q62083-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "membrane curvature sensor activity", "id": "GO:0140090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140090", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "Arp2/3 complex binding", "id": "GO:0071933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071933", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "protein transporter activity", "id": "GO:0140318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140318", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": 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"https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "dendritic spine cytoplasm", "id": "GO:0061846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061846", "evidence": [ { "database": "UniProtKB", "id": "Q62083", "url": "https://www.uniprot.org/uniprotkb/Q62083" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": 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"https://www.uniprot.org/uniprotkb/P61327" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 17164.0, "gene_names": "Magoh;Mago-m;Magoh;Mos2", "protein_name": "Protein mago nashi homolog", "disease": [], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:0000184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000184", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "female gamete generation", "id": "GO:0007292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007292", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "regulation of mRNA processing", "id": "GO:0050684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050684", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000622", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "exon-exon junction complex", "id": "GO:0035145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035145", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" }, { "name": "exon-exon junction subcomplex mago-y14", "id": "GO:1990501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990501", "evidence": [ { "database": "UniProtKB", "id": "P61327", "url": "https://www.uniprot.org/uniprotkb/P61327" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q64321-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 544, "chemical_mass": 58918.0, "gene_names": "Zbtb7b;Thpok;Zbtb7b;Zfp67;c-Krox", "protein_name": "Zinc finger and BTB domain-containing protein 7B", "disease": [], "biological_process": [ { "name": "negative regulation of T-helper 17 cell differentiation", "id": "GO:2000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000320", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "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": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "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": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "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": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "regulation of CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043370", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043372", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "NK T cell differentiation", "id": "GO:0001865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001865", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "regulation of CD8-positive, alpha-beta T cell differentiation", "id": "GO:0043376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043376", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "adaptive thermogenesis", "id": "GO:1990845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990845", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "negative regulation of CD8-positive, alpha-beta T cell differentiation", "id": "GO:0043377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043377", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "negative regulation of NK T cell proliferation", "id": "GO:0051141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051141", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "positive regulation of SREBP signaling pathway", "id": "GO:2000640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000640", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "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": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "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": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "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": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity", "id": "GO:0001217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001217", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64321-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ] } ] }, { "uniprot_canonical_ac": "Q64321-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Thr373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" } ] } ] }, { "uniprot_canonical_ac": "Q64321-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Lys207", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on acetylation levels. Slightly decreases acetylation levels; when associated with R-210. Slightly decreases acetylation levels; when associated with R-216.", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" }, { "database": "PubMed", "id": "20810990", "url": "https://glygen.org/publication/PubMed/20810990" } ] } ] }, { "uniprot_canonical_ac": "Q64321-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Lys210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Slightly decreases acetylation levels. No effect on protein stability. Slightly decreases acetylation levels; when associated with R-207. Slightly decreases acetylation levels and increases protein stability; when associated with R-216. Increases protein stability; when associated with R-339. Decreases acetylation levels; when associated with R-216 and R-343. Abolishes acetylation levels and ubiquitination and highly increases protein stability; when associated with R-216 and R-339.", "evidence": [ { "database": "UniProtKB", "id": "Q64321", "url": "https://www.uniprot.org/uniprotkb/Q64321" }, { "database": "PubMed", "id": "20810990", "url": "https://glygen.org/publication/PubMed/20810990" } ] } ] }, { "uniprot_canonical_ac": "Q64321-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Lys216", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Slightly decreases acetylation levels. No effect on protein stability. Slightly decreases acetylation levels; when associated with R-207. Slightly decreases acetylation levels and increases protein stability; when associated with R-210. Increases protein stability; when associated with R-339. Decreases acetylation levels; when associated with R-210 and R-343. 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"https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "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: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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "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 } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "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": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "regulation of D-glucose import", "id": "GO:0046324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046324", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "long-chain fatty acid import into cell", "id": "GO:0044539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044539", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "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": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue growth", "id": "GO:0048633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048633", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "regulation of kinase activity", "id": "GO:0043549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043549", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "negative regulation of TORC2 signaling", "id": "GO:1903940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903940", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8BSK8", "url": "https://www.uniprot.org/uniprotkb/Q8BSK8" } ], "pmid": "" }, { "name": 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kinase B activity", "id": "GO:0032148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032148", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "negative regulation of hydrolase activity", "id": "GO:0051346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051346", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of protein transport", "id": "GO:0051222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051222", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of T-helper 2 cell cytokine production", "id": "GO:2000553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000553", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of interleukin-4 production", "id": "GO:0032753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of T-helper 2 cell differentiation", "id": "GO:0045630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045630", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q02956", "url": "https://www.uniprot.org/uniprotkb/Q02956" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", 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"uniprot_canonical_ac": "Q5DT36-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Phe131", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710727", "evidence": [ { "id": "rs3545033350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545033350" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Trp136", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710711", "evidence": [ { "id": "rs3544856904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544856904" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Gly140", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710700", "evidence": [ { "id": "rs3545032614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545032614" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Cys145", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710685", "evidence": [ { "id": "rs3544825605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544825605" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Val146", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710681", "evidence": [ { "id": "rs3544819059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544819059" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Arg148", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710676", "evidence": [ { "id": "rs3545033141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545033141" } ] }, { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710676", "evidence": [ { "id": "rs3545033141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545033141" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710667_129710668delin", "evidence": [ { "id": "rs579461121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579461121" }, { "id": "rs3397291409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397291409" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Trp154", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710656", "evidence": [ { "id": "rs3544861999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544861999" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Val155", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710654", "evidence": [ { "id": "rs3397418668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397418668" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710655", "evidence": [ { "id": "rs3544980460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544980460" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Glu156", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710652", "evidence": [ { "id": "rs3544821786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544821786" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Gln158", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710645", "evidence": [ { "id": "rs3544981049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544981049" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Val177", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710589", "evidence": [ { "id": "rs3544908900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544908900" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asn179", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710063", "evidence": [ { "id": "rs3397211298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397211298" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Glu184", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710048", "evidence": [ { "id": "rs3544821967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544821967" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Asp186", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710043", "evidence": [ { "id": "rs3544904737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544904737" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Ser198", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710005", "evidence": [ { "id": "rs3544857519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544857519" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Arg200", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129710001", "evidence": [ { "id": "rs3544818632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544818632" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Leu201", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709997_129709998insTCCTCCACACTACCTCAACCATCA", "evidence": [ { "id": "rs3388867539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867539" }, { "id": "rs3388865249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865249" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Gly203", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709992", "evidence": [ { "id": "rs3545144012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545144012" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Lys207", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709980", "evidence": [ { "id": "rs3388858631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858631" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Arg209", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709973", "evidence": [ { "id": "rs3544950209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544950209" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Glu217", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709201", "evidence": [ { "id": "rs3544822298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544822298" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Lys218", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709197", "evidence": [ { "id": "rs3388865217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865217" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "224", "end_pos": "224", "site_lbl": "His224", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709180", "evidence": [ { "id": "rs3544921901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544921901" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Arg227", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709171", "evidence": [ { "id": "rs3544926609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544926609" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Lys22", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129717318", "evidence": [ { "id": "rs3397513932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397513932" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ile230", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709163", "evidence": [ { "id": "rs3544909241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544909241" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asp234", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709151", "evidence": [ { "id": "rs3397363017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397363017" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Thr241", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709130", "evidence": [ { "id": "rs3544853875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544853875" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ile243", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129709123", "evidence": [ { "id": "rs3544857017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544857017" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Thr25", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129717308", "evidence": [ { "id": "rs3397121563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397121563" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Lys48", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129717240", "evidence": [ { "id": "rs3388850376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850376" } ] } ] }, { "uniprot_canonical_ac": "Q5DT36-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Glu50", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "subcortical maternal complex", "id": "GO:0106333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106333", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "cytoplasmic lattice", "id": "GO:0140095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140095", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "structural constituent of cytoplasmic lattice", "id": "GO:0140094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140094", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "establishment of organelle localization", "id": "GO:0051656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051656", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" }, { "name": "protein storage", "id": "GO:0140089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140089", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CWU5-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" }, { "database": "iPTMnet", "id": "Q9CWU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CWU5" }, { "database": "PubMed", "id": "29125140", "url": "https://glygen.org/publication/PubMed/29125140" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces restart of stalled replication forks and cells show an increase in DNA double strand breaks. Decreases phosphorylation of ATR at 'S-428'. Reduces TRIM25 ubiquitination of BLM and subsequent localization to DNA replication forks. Reduces phosphorylation and activation of ATR. No effect on Filia distribution at replication forks or nascent DNA degradation following DNA damage. Not effect on interaction with OOEP.", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" }, { "database": "PubMed", "id": "29125140", "url": "https://glygen.org/publication/PubMed/29125140" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on localization at replication forks, nascent DNA degradation following DNA damage, restart of stalled replication forks or levels of DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" }, { "database": "PubMed", "id": "29125140", "url": "https://glygen.org/publication/PubMed/29125140" } ] } ] }, { "uniprot_canonical_ac": "Q9CWU5-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Thr274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ] } ] }, { "uniprot_canonical_ac": "Q9CWU5-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Thr286", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" } ] } ] }, { "uniprot_canonical_ac": "Q9CWU5-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" }, { "database": "PubMed", "id": "25936915", "url": "https://glygen.org/publication/PubMed/25936915" }, { "database": "iPTMnet", "id": "Q9CWU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CWU5" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes localization to the nucleus and enhances localization to the mitochondrion. Reduces stalled replication fork restart. Abolishes ATR-mediated phosphorylation of S-151. No effect on phosphorylation and activation of ATR. No effect on localization to centrosomes or centrosome integrity.", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" }, { "database": "PubMed", "id": "25936915", "url": "https://glygen.org/publication/PubMed/25936915" }, { "database": "PubMed", "id": "29125140", "url": "https://glygen.org/publication/PubMed/29125140" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Abolishes DNA double-strand break repair and subsequent regulation of apoptosis. Abolishes localization to the mitochondrion. No effect on localization to centrosomes or centrosome integrity.", "evidence": [ { "database": "UniProtKB", "id": "Q9CWU5", "url": "https://www.uniprot.org/uniprotkb/Q9CWU5" }, { "database": "PubMed", "id": "25936915", "url": "https://glygen.org/publication/PubMed/25936915" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9D638-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D638", "url": "https://www.uniprot.org/uniprotkb/Q9D638" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 99, "chemical_mass": 10574.0, "gene_names": "Krtap3-2;2310020D06Rik;KAP3.3;KRTAP3.3;Krtap3-3", "protein_name": "Keratin-associated protein 3-2", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D638", "url": "https://www.uniprot.org/uniprotkb/Q9D638" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "Q9D638", "url": "https://www.uniprot.org/uniprotkb/Q9D638" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9D638", "url": "https://www.uniprot.org/uniprotkb/Q9D638" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9D646-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 392, "chemical_mass": 44560.0, "gene_names": "Krt34;4733401E01Rik;Ha2;Ha4;K34;Krt1-4;Krt34", "protein_name": "Keratin, type I cuticular Ha4", "disease": [], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "pmid": "" } ], "biological_process": [ { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of skin epidermis", "id": "GO:0030280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030280", "evidence": [ { "database": "UniProtKB", "id": "Q9D646", "url": "https://www.uniprot.org/uniprotkb/Q9D646" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9D9P8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D9P8", "url": "https://www.uniprot.org/uniprotkb/Q9D9P8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 108, "chemical_mass": 12138.0, "gene_names": "Llcfc1;1700034O15Rik;Llcfc1;Sof1;Sofu1", "protein_name": "Sperm-egg fusion protein LLCFC1", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9D9P8", "url": "https://www.uniprot.org/uniprotkb/Q9D9P8" } ], "pmid": "" } ], "biological_process": [ { "name": "fusion of sperm to egg plasma membrane involved in single fertilization", "id": "GO:0007342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007342", "evidence": [ { "database": "UniProtKB", "id": "Q9D9P8", "url": "https://www.uniprot.org/uniprotkb/Q9D9P8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9DAE3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAE3", "url": "https://www.uniprot.org/uniprotkb/Q9DAE3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 120, "chemical_mass": 12755.0, "gene_names": "Lelp1;1700012F11Rik;Lelp1", "protein_name": "Late cornified envelope-like proline-rich protein 1", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9JI74-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JI74", "url": "https://www.uniprot.org/uniprotkb/Q9JI74" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 751, "chemical_mass": 82892.0, "gene_names": "Klhl1;Klhl1;mKIAA1490", "protein_name": "Kelch-like protein 1", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JI74", "url": "https://www.uniprot.org/uniprotkb/Q9JI74" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q9JI74", "url": "https://www.uniprot.org/uniprotkb/Q9JI74" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JI74", "url": "https://www.uniprot.org/uniprotkb/Q9JI74" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9JI74", "url": "https://www.uniprot.org/uniprotkb/Q9JI74" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": 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The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060738", "evidence": [ { "id": "0060738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060738" } ], "weight": 0.0 }, { "disease_id": "DOID:0110054", "name": "amelogenesis imperfecta type 1A", "description": "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0110054", "evidence": [ { "id": "0110054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110054" } ], "weight": 0.0 }, { "disease_id": "DOID:3209", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.", "url": "https://disease-ontology.org/term/DOID:3209", "evidence": [ { "id": "3209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3209" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": 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(GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 601, "start_aa": "Asn", "end_pos": 601, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn601", "evidence": [ { "id": "Q61087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61087#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61087-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Asn806", "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": 806, "start_aa": "Asn", "end_pos": 806, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn806", "evidence": [ { "id": "Q61087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61087#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q61292-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1799, "chemical_mass": 196579.0, "gene_names": "Lamb2;Lamb-2;Lamb2;Lams;npht", "protein_name": "Laminin subunit beta-2", "disease": [ { "disease_id": "DOID:0060852", "name": "Pierson syndrome", "description": "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0060852", "evidence": [ { "id": "0060852", "database": "AGR", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "structural constituent of synapse-associated extracellular matrix", "id": "GO:0150043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150043", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "laminin complex", "id": "GO:0043256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043256", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "laminin-3 complex", "id": "GO:0005608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005608", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "laminin-11 complex", "id": "GO:0043260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043260", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "laminin-4 complex", "id": "GO:0005609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005609", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "laminin-7 complex", "id": "GO:0005612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005612", "evidence": [ { "database": "UniProtKB", "id": "Q61292", "url": "https://www.uniprot.org/uniprotkb/Q61292" } ], "pmid": "" }, { "name": "laminin-9 complex", "id": "GO:0043258", "url": 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"pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "mevalonate kinase activity", "id": "GO:0004496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004496", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "isopentenyl diphosphate biosynthetic process, mevalonate pathway", "id": "GO:0019287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019287", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "geranylgeranyl diphosphate biosynthetic process", "id": "GO:0033386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033386", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via desmosterol", "id": "GO:0033489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033489", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via lathosterol", "id": "GO:0033490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033490", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "isoprenoid biosynthetic process", "id": "GO:0008299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008299", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "farnesyl diphosphate biosynthetic process, mevalonate pathway", "id": "GO:0010142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010142", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" }, { "name": "zymosterol biosynthetic process", "id": "GO:0036197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036197", "evidence": [ { "database": "UniProtKB", "id": "Q9R008", "url": "https://www.uniprot.org/uniprotkb/Q9R008" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P48999-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 674, "chemical_mass": 77967.0, "gene_names": "Alox5;5-LOX;5-LO;5LO;5LX;Alox5;F730011J02", "protein_name": "Polyunsaturated fatty acid 5-lipoxygenase", "disease": [ { "disease_id": "DOID:0080821", "name": "exercise-induced bronchoconstriction", "description": "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.", "url": "https://disease-ontology.org/term/DOID:0080821", "evidence": [ { "id": "0080821", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080821" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "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:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "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: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: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: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid oxidation", "id": "GO:0034440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034440", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of vascular wound healing", "id": "GO:0061044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061044", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "lipoxin biosynthetic process", "id": "GO:2001301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001301", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "leukotriene metabolic process", "id": "GO:0006691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006691", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "leukotriene biosynthetic process", "id": "GO:0019370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019370", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "lipoxygenase pathway", "id": "GO:0019372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019372", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species biosynthetic process", "id": "GO:1903426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903426", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "positive regulation of cytochrome-c oxidase activity", "id": "GO:1904960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904960", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in inflammatory response", "id": "GO:1900015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900015", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "dendritic cell migration", "id": "GO:0036336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036336", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "leukotriene production involved in inflammatory response", "id": "GO:0002540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002540", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of response to endoplasmic reticulum stress", "id": "GO:1903573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903573", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "leukocyte chemotaxis involved in inflammatory response", "id": "GO:0002232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002232", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "negative regulation of sprouting angiogenesis", "id": "GO:1903671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903671", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to arterial endothelial cell", "id": "GO:1904999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904999", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "regulation of inflammatory response to wounding", "id": "GO:0106014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106014", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "leukotriene A4 biosynthetic process", "id": "GO:1901753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901753", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "icosanoid metabolic process", "id": "GO:0006690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006690", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen", "id": "GO:0016702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016702", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "arachidonate 12(S)-lipoxygenase activity", "id": "GO:0004052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004052", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "arachidonate 8(S)-lipoxygenase activity", "id": "GO:0036403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036403", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "arachidonate 5-lipoxygenase activity", "id": "GO:0004051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004051", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "nuclear envelope lumen", "id": "GO:0005641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48999-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Phe360", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "W", "comment": "Increases formation of (8S)-hydroperoxyicosatetraenoic acid ((8S)-HPETE). Exhibits a (8S)-lipoxygenase activity; when associated with I-425. Exhibits a (15S)-lipoxygenase activity; when associated with I-425 and M-426. Loss of arachidonate (5S)-lipoxygenase activity; when associated with G-411; I-425 and M-426. Forms 11(R)-hydroperoxyicosatetraenoic acid (11(R)-HPETE) as the major arachidonic acid oxygenation product; when associated with G-411; I-425 and M-426. Does not oxygenate arachidonic acid into 5-HETE; when associated with I-425 and M-426. Catalyzes oxygenation of arachidonic acid into a major product (15S)-HETE followed by 12-HETE and 8-HETE;when associated with I-425 and M-426. Catalyzes oxygenation of linoleic acid, gamma-linolenic acid, arachidonic acid, eicosapentaenoic acid and docosahexaenoic acid; when associated with I-425 and M-426. Catalyzes oxygenation of anandamide to 15-OH-ANA. Knockin mice are viable, fertile, and develop normally; when associated with I-425 and M-426. Mice convert arachidonic to 15-HETE, 12-HETE, and 8-HETE; when associated with I-425 and M-426. Mice cannot synthesize pro-inflammatory leukotrienes but show significantly attenuated plasma levels of lipolytic endocannabinoids; when associated with I-425 and M-426. When aging, animals gain significantly more body weight probably due to higher levels of 13-HODE in the adipose tissue; when associated with I-425 and M-426.", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" }, { "database": "PubMed", "id": "31642348", "url": "https://glygen.org/publication/PubMed/31642348" }, { "database": "PubMed", "id": "23246375", "url": "https://glygen.org/publication/PubMed/23246375" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ala411", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Decreases (5S)-lipoxygenase activity. Forms 9-hydroperoxyicosatetraenoic acid (9-HPETE) as the major arachidonic acid oxygenation product. Loss of arachidonate (5S)-lipoxygenase activity; when associated with W-360; I-425 and M-426. Forms 11(R)-hydroperoxyicosatetraenoic acid (11(R)-HPETE) as the major arachidonic acid oxygenation product; when associated with W-360; I-425 and M-426.", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" }, { "database": "PubMed", "id": "23246375", "url": "https://glygen.org/publication/PubMed/23246375" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ala425", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "I", "comment": "Decreases arachidonate (5S)-lipoxygenase activity. Decreases arachidonate 5 lipoxygenase activity; when associated with A-604. Exhibits a (8S)-lipoxygenase activity; when associated with W-360. Exhibits a (15S)-lipoxygenase activity; when associated with W-360 and M-426. Loss of arachidonate (5S)-lipoxygenase activity; when associated with W-360; G-411 and M-426. Forms 11(R)-hydroperoxyicosatetraenoic acid (11(R)-HPETE) as the major arachidonic acid oxygenation product; when associated with W-360; G-411 and M-426. Does not oxygenate arachidonic acid into 5-HETE; when associated with I-425 and M-426. Catalyzes oxygenation of arachidonic acid into a major product (15S)-HETE followed by 12-HETE and 8-HETE; when associated with I-425 and M-426. Catalyzes oxygenation of linoleic acid, gamma-linolenic acid, arachidonic acid, eicosapentaenoic acid and docosahexaenoic acid; when associated with I-425 and M-426. Catalyzes oxygenation of anandamide to 15-OH-ANA. Knockin mice are viable, fertile, and develop normally; when associated with I-425 and M-426. Mice convert arachidonic to 15-HETE, 12-HETE, and 8-HETE; when associated with I-425 and M-426. Mice cannot synthesize pro-inflammatory leukotrienes but show significantly attenuated plasma levels of lipolytic endocannabinoids; when associated with I-425 and M-426. When aging, animals gain significantly more body weight probably due to higher levels of 13-HODE in the adipose tissue; when associated with I-425 and M-426.", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" }, { "database": "PubMed", "id": "31642348", "url": "https://glygen.org/publication/PubMed/31642348" }, { "database": "PubMed", "id": "23246375", "url": "https://glygen.org/publication/PubMed/23246375" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Asn426", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "M", "comment": "Increases formation of (8S)-hydroperoxyicosatetraenoic acid ((8S)-HPETE) and (12S)-hydroperoxyicosatetraenoic acid ((12S)-HPETE). Exhibits a (15S)-lipoxygenase activity; when associated with W-360 and I-425. Loss of arachidonate (5S)-lipoxygenase activity; when associated with W-360; G-411 and I-425. Forms 11(R)-hydroperoxyicosatetraenoic acid (11(R)-HPETE) as the major arachidonic acid oxygenation product; when associated with W-360; G-411 and I-425.", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" }, { "database": "PubMed", "id": "31642348", "url": "https://glygen.org/publication/PubMed/31642348" }, { "database": "PubMed", "id": "23246375", "url": "https://glygen.org/publication/PubMed/23246375" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ala604", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "I", "comment": "Decreases arachidonate (5S)-lipoxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" }, { "database": "PubMed", "id": "23246375", "url": "https://glygen.org/publication/PubMed/23246375" } ] } ] }, { "uniprot_canonical_ac": "P48999-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Val672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P48999", "url": "https://www.uniprot.org/uniprotkb/P48999" }, { "database": "PubMed", "id": "7629107", "url": "https://glygen.org/publication/PubMed/7629107" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "P16125-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 334, "chemical_mass": 36572.0, "gene_names": "Ldhb;H-Ldh;LDH-B;LDH-H;Ldh-2;Ldh2;Ldhb", "protein_name": "L-lactate dehydrogenase B chain", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "oxidoreductase complex", "id": "GO:1990204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990204", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "L-lactate dehydrogenase (NAD+) activity", "id": "GO:0004459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004459", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "lactate dehydrogenase activity", "id": "GO:0004457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004457", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" } ], "biological_process": [ { "name": "NAD+ metabolic process", "id": "GO:0019674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019674", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "lactate biosynthetic process from pyruvate", "id": "GO:0019244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019244", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "lactate metabolic process", "id": "GO:0006089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006089", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "pyruvate catabolic process", "id": "GO:0042867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042867", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "carboxylic acid metabolic process", "id": "GO:0019752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019752", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" }, { "name": "small molecule biosynthetic process", "id": "GO:0044283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044283", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": "https://www.uniprot.org/uniprotkb/P16125" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16125-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16125", "url": 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} ] }, { "uniprot_canonical_ac": "Q8VCD3-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Asn298", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/l-type.", "chr_id": "9", "chr_pos": "57519052", "evidence": [ { "id": "rs3389023298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023298" } ] } ] }, { "uniprot_canonical_ac": "Q8VCD3-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Glu304", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/l-type.", "chr_id": "9", "chr_pos": "57519035", "evidence": [ { "id": "rs3389046109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046109" } ] } ] }, { "uniprot_canonical_ac": "Q8VCD3-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Lys337", 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} ] } ] }, { "uniprot_canonical_ac": "Q8VCD3-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Lys398", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/l-type.", "chr_id": "9", "chr_pos": "57516510", "evidence": [ { "id": "rs3389046155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046155" } ] } ] }, { "uniprot_canonical_ac": "Q8VCD3-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Arg416", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/l-type.", "chr_id": "9", "chr_pos": "57516456", "evidence": [ { "id": "rs3389052101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389052101" } ] } ] }, { "uniprot_canonical_ac": "Q8VCD3-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Gly454", 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"https://www.uniprot.org/uniprotkb/P97309" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P97309", "url": "https://www.uniprot.org/uniprotkb/P97309" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P97309", "url": "https://www.uniprot.org/uniprotkb/P97309" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P97309", "url": "https://www.uniprot.org/uniprotkb/P97309" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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"pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97309", "url": "https://www.uniprot.org/uniprotkb/P97309" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97309", "url": "https://www.uniprot.org/uniprotkb/P97309" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q05A36-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05A36", "url": "https://www.uniprot.org/uniprotkb/Q05A36" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 652, "chemical_mass": 68574.0, "gene_names": "Mex3c;A130001D14Rik;BM-013;Mex3c;Rkhd2", "protein_name": 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"Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 526, "chemical_mass": 58605.0, "gene_names": "Mitf;BCC2;Bhlhe32;Bw;Gsfbcc2;Mitf;Mi;Vitiligo;Vit;Wh;bw;mi;vit", "protein_name": "Microphthalmia-associated transcription factor", "disease": [ { "disease_id": "DOID:0090002", "name": "Tietz syndrome", "description": "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.", "url": "https://disease-ontology.org/term/DOID:0090002", "evidence": [ { "id": "0090002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090002" } ], "weight": 0.0 }, { "disease_id": "DOID:0090100", "name": "ocular albinism with sensorineural deafness", "description": "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic 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characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.", "url": "https://disease-ontology.org/term/DOID:0110950", "evidence": [ { "id": "0110950", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110950" } ], "weight": 0.0 }, { "disease_id": "DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 }, { "disease_id": "DOID:14021", "name": "Tietze's syndrome", "description": "A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain.", "url": "https://disease-ontology.org/term/DOID:14021", "evidence": [ { "id": "14021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14021" } ], "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:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal 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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:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "coenzyme A binding", "id": "GO:0120225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120225", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "3'-5'-DNA exonuclease activity", "id": "GO:0008296", "url": 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"https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "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": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "DNA endonuclease activity", "id": "GO:0004520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004520", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "DNA nuclease activity", "id": "GO:0004536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004536", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "intermediate filament binding", "id": "GO:0019215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019215", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": 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"https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "phosphotransferase activity, phosphate group as acceptor", "id": "GO:0016776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016776", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "farnesyl diphosphate kinase activity", "id": "GO:0047887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047887", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "succinyl-CoA binding", "id": "GO:0120226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120226", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" } ], "biological_process": [ { "name": "dTMP biosynthetic process", "id": "GO:0006231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006231", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "regulation of fatty acid biosynthetic process", "id": "GO:0042304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042304", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "DNA catabolic process", "id": "GO:0006308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006308", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "isoprenoid metabolic process", "id": "GO:0006720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006720", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "protein hexamerization", "id": "GO:0034214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034214", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "negative regulation of myeloid leukocyte differentiation", "id": "GO:0002762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002762", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "nucleoside diphosphate metabolic process", "id": "GO:0009132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009132", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "acetyl-CoA catabolic process", "id": "GO:0046356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046356", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "GTP biosynthetic process", "id": "GO:0006183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006183", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "UTP biosynthetic process", "id": "GO:0006228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006228", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "CTP biosynthetic process", "id": "GO:0006241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006241", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "nucleoside triphosphate biosynthetic process", "id": "GO:0009142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009142", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "ITP biosynthetic process", "id": "GO:0046042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046042", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P15532-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ] } ] }, { "uniprot_canonical_ac": "P15532-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P15532", "url": "https://www.uniprot.org/uniprotkb/P15532" } ] } ] }, { "uniprot_canonical_ac": "P15532-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "phosphorylation": [ { 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"GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q9DB91", "url": "https://www.uniprot.org/uniprotkb/Q9DB91" } ], "pmid": "" }, { "name": "core mediator complex", "id": "GO:0070847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070847", "evidence": [ { "database": "UniProtKB", "id": "Q9DB91", "url": "https://www.uniprot.org/uniprotkb/Q9DB91" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9DB91", "url": "https://www.uniprot.org/uniprotkb/Q9DB91" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9DC37-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 464, "chemical_mass": 51396.0, "gene_names": "Mfsd1;1200003O06Rik;Mfsd1", "protein_name": "Lysosomal dipeptide transporter MFSD1", "disease": [], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" }, { "name": "dipeptide uniporter activity", "id": "GO:0160178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160178", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" } ], "biological_process": [ { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" }, { "name": "dipeptide transmembrane transport from lysosomal lumen to cytosol", "id": "GO:0141204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141204", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DC37-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9DC37", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DC37" } ] } ] }, { "uniprot_canonical_ac": "Q9DC37-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Asn449", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No change in molecular weight, indicating lack of N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" }, { "database": "PubMed", "id": "31661432", "url": "https://glygen.org/publication/PubMed/31661432" } ] } ] }, { "uniprot_canonical_ac": "Q9DC37-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Asn76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No change in molecular weight, indicating lack of N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9DC37", "url": "https://www.uniprot.org/uniprotkb/Q9DC37" }, { "database": "PubMed", "id": "31661432", "url": "https://glygen.org/publication/PubMed/31661432" } ] } ] } ], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9DD20-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 244, "chemical_mass": 28049.0, "gene_names": "Tmt1b;0610006F02Rik;Mettl7b;Tmt1b", "protein_name": "Thiol S-methyltransferase TMT1B", "disease": [], "cellular_component": [ { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "pmid": "" } ], "molecular_function": [ { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "pmid": "" }, { "name": "thiol S-methyltransferase activity", "id": "GO:0018708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018708", "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9DD20", "url": "https://www.uniprot.org/uniprotkb/Q9DD20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.9" }, { "uniprot_canonical_ac": "Q9JI70-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 570, "chemical_mass": 61924.0, "gene_names": "Mkks;1300013E18Rik;Bbs6;Mkks", "protein_name": "Molecular chaperone MKKS", "disease": [ { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:0110128", "name": "Bardet-Biedl syndrome 6", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110128", "evidence": [ { "id": "0110128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110128" } ], "weight": 0.0 }, { "disease_id": "DOID:0111255", "name": "McKusick-Kaufman syndrome", "description": "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.", "url": "https://disease-ontology.org/term/DOID:0111255", "evidence": [ { "id": "0111255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111255" } ], "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 }, { 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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": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "kinociliary basal body", "id": "GO:1902636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902636", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "artery smooth muscle contraction", "id": "GO:0014824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014824", "evidence": [ { "database": "UniProtKB", "id": "Q9JI70", "url": "https://www.uniprot.org/uniprotkb/Q9JI70" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", 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"evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "retina vasculature morphogenesis in camera-type eye", "id": "GO:0061299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061299", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "extracellular matrix-cell signaling", "id": "GO:0035426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035426", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "retinal rod cell differentiation", "id": "GO:0060221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060221", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "glycine metabolic process", "id": "GO:0006544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006544", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "re-entry into mitotic cell cycle", "id": "GO:0000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000320", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "L-serine metabolic process", "id": "GO:0006563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006563", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "retinal blood vessel morphogenesis", "id": "GO:0061304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061304", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "ubiquitin-dependent endocytosis", "id": "GO:0070086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070086", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "establishment of blood-retinal barrier", "id": "GO:1990963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990963", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "microglial cell proliferation", "id": "GO:0061518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061518", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P48744", "url": "https://www.uniprot.org/uniprotkb/P48744" } ], "pmid": "" }, { "name": "endothelial cell differentiation", "id": "GO:0045446", "url": 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"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: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": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"name": "neutrophil activation", "id": "GO:0042119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042119", "evidence": [ { "database": "UniProtKB", "id": "P55086", "url": "https://www.uniprot.org/uniprotkb/P55086" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "P55086", "url": "https://www.uniprot.org/uniprotkb/P55086" } ], "pmid": "" }, { "name": "regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000341", "evidence": [ { "database": "UniProtKB", "id": "P55086", "url": "https://www.uniprot.org/uniprotkb/P55086" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P55086", "url": "https://www.uniprot.org/uniprotkb/P55086" } ], 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