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The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "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: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: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:13767", "name": "clonorchiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.", "url": "https://disease-ontology.org/term/DOID:13767", "evidence": [ { "id": "13767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13767" } ], "weight": 0.0 }, { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of interleukin-13 production", "id": "GO:0032736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032736", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of interleukin-5 production", "id": "GO:0032754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032754", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "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": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "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": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "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": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "negative regulation of leukocyte migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "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": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "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": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "microglial cell activation involved in immune response", "id": "GO:0002282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002282", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of MHC class I biosynthetic process", "id": "GO:0045345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045345", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "interleukin-33-mediated signaling pathway", "id": "GO:0038172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038172", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "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": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of glycoprotein biosynthetic process", "id": "GO:0010560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010560", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of cellular defense response", "id": "GO:0010186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010186", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "negative regulation of macrophage proliferation", "id": "GO:0120042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120042", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "microglial cell proliferation", "id": "GO:0061518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061518", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "positive regulation of type 2 immune response", "id": "GO:0002830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002830", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "negative regulation of immunoglobulin production", "id": "GO:0002638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002638", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "macrophage activation involved in immune response", "id": "GO:0002281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002281", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "negative regulation of T-helper 1 type immune response", "id": "GO:0002826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002826", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to wounding", "id": "GO:0106015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106015", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "inflammatory response to wounding", "id": "GO:0090594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090594", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprotkb/Q8BVZ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular 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"name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "Q99P58", "url": "https://www.uniprot.org/uniprotkb/Q99P58" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q99P58", "url": "https://www.uniprot.org/uniprotkb/Q99P58" } ], "pmid": "" }, { "name": "zymogen granule membrane", "id": "GO:0042589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042589", "evidence": [ { "database": "UniProtKB", "id": "Q99P58", "url": "https://www.uniprot.org/uniprotkb/Q99P58" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99P58-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Tyr6", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes the interaction with 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"url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060131", "name": "alexithymia", "description": "An agnosia that is a deficiency in understanding, processing, or describing emotions.", "url": "https://disease-ontology.org/term/DOID:0060131", "evidence": [ { "id": "0060131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060131" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.", "url": "https://disease-ontology.org/term/DOID:302", "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:7475", "name": "diverticulitis", "description": "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.", "url": "https://disease-ontology.org/term/DOID:7475", "evidence": [ { "id": "7475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7475" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "serotonin:sodium:chloride symporter activity", "id": "GO:0005335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005335", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "cocaine binding", "id": "GO:0019811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019811", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "sodium ion binding", "id": "GO:0031402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031402", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of organ growth", "id": "GO:0046621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046621", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "negative regulation of cerebellar granule cell precursor proliferation", "id": "GO:0021941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021941", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "male mating behavior", "id": "GO:0060179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060179", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "positive regulation of serotonin secretion", "id": "GO:0014064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014064", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, dopaminergic", "id": "GO:0032227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032227", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "conditioned place preference", "id": "GO:1990708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990708", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "cellular response to cGMP", "id": "GO:0071321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071321", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "neurotransmitter reuptake", "id": "GO:0098810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098810", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "regulation of thalamus size", "id": "GO:0090067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090067", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q60857", "url": "https://www.uniprot.org/uniprotkb/Q60857" } ], 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q3ZT31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3ZT31", "url": "https://www.uniprot.org/uniprotkb/Q3ZT31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 840, "chemical_mass": 97146.0, "gene_names": "Snx25;Gm1699;Gm173;Sbbi31;Snx25", "protein_name": "Sorting nexin-25", "disease": [ { "disease_id": "DOID:0080066", "name": "autosomal recessive spinocerebellar ataxia 20", "description": "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0080066", 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"id": "Q8BKJ9", "url": "https://www.uniprot.org/uniprotkb/Q8BKJ9" } ], "pmid": "" }, { "name": "positive regulation of transcription of nucleolar large rRNA by RNA polymerase I", "id": "GO:1901838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901838", "evidence": [ { "database": "UniProtKB", "id": "Q8BKJ9", "url": "https://www.uniprot.org/uniprotkb/Q8BKJ9" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q8BKJ9", "url": "https://www.uniprot.org/uniprotkb/Q8BKJ9" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "Q8BKJ9", "url": "https://www.uniprot.org/uniprotkb/Q8BKJ9" } ], "pmid": "" }, { "name": "R-loop processing", "id": "GO:0062176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062176", "evidence": [ { 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"name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "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:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.", "url": "https://disease-ontology.org/term/DOID:8970", "evidence": [ { "id": "8970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "interleukin-28 receptor binding", "id": "GO:0032003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032003", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "interleukin-28 receptor complex", "id": "GO:0032002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032002", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "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": "Q8CGK6", "url": "https://www.uniprot.org/uniprotkb/Q8CGK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8K572-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 276, "chemical_mass": 31251.0, "gene_names": "Hus1b;Hus1b", "protein_name": "Checkpoint protein HUS1B", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "checkpoint clamp complex", "id": "GO:0030896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030896", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" } ], "biological_process": [ { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "mitotic intra-S DNA damage checkpoint signaling", "id": "GO:0031573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031573", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "mitotic DNA replication checkpoint signaling", "id": "GO:0033314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033314", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" }, { "name": "meiotic DNA integrity checkpoint signaling", "id": "GO:0044778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044778", "evidence": [ { "database": "UniProtKB", "id": "Q8K572", "url": "https://www.uniprot.org/uniprotkb/Q8K572" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8R3P6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 515, "chemical_mass": 57237.0, "gene_names": "Ints14;2010321M09Rik;Ints14;Vwa9", "protein_name": "Integrator complex subunit 14", "disease": [], "biological_process": [ { "name": "regulation of transcription elongation by RNA polymerase II", "id": "GO:0034243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034243", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" }, { "name": "snRNA processing", "id": "GO:0016180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016180", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" }, { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" }, { "name": "integrator complex", "id": "GO:0032039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032039", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" }, { "name": "INTAC complex", "id": "GO:0160232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160232", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P6", "url": "https://www.uniprot.org/uniprotkb/Q8R3P6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8R412-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 90, "chemical_mass": 7929.0, "gene_names": "Ifi27l2a;2310061N23Rik;Ifi27l2a;Ifi27;Isg12(b1);Isg12", "protein_name": "Interferon alpha-inducible protein 27-like protein 2A", "disease": [], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q8R412", "url": "https://www.uniprot.org/uniprotkb/Q8R412" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8R460-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 164, "chemical_mass": 18733.0, "gene_names": "Il36g;Il1f9", "protein_name": "Interleukin-36 gamma", "disease": [], "biological_process": [ { "name": "negative regulation of myoblast fusion", "id": "GO:1901740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901740", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q8R460", "url": "https://www.uniprot.org/uniprotkb/Q8R460" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8R4K2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4K2", "url": "https://www.uniprot.org/uniprotkb/Q8R4K2" } ], "common_name": "Mouse", "glygen_name": 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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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:118", "name": "pericardial effusion", "description": "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.", "url": "https://disease-ontology.org/term/DOID:118", "evidence": [ { "id": "118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:118" } ], "weight": 0.0 }, { "disease_id": "DOID:12030", "name": "panuveitis", "description": "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:12030", "evidence": [ { "id": "12030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12030" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12732", "name": "intermediate uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12732", "evidence": [ { "id": "12732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12732" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1417", "name": "choroid disease", "description": "An uveal disease that is located_in the choroid.", "url": "https://disease-ontology.org/term/DOID:1417", "evidence": [ { "id": "1417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1417" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14654" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1754", "name": "mitral valve stenosis", "description": "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.", "url": "https://disease-ontology.org/term/DOID:1754", "evidence": [ { "id": "1754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1754" } ], "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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2862", "name": "glucosephosphate dehydrogenase deficiency", "description": "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).", "url": "https://disease-ontology.org/term/DOID:2862", "evidence": [ { "id": "2862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2862" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3234", "name": "central nervous system lymphoma", "description": "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.", "url": "https://disease-ontology.org/term/DOID:3234", "evidence": [ { "id": "3234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3234" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:37", "name": "skin disease", "description": "An integumentary system disease that is located_in skin.", "url": "https://disease-ontology.org/term/DOID:37", "evidence": [ { "id": "37", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:37" } ], "weight": 0.0 }, { "disease_id": "DOID:3904", "name": "bronchus carcinoma", "description": "A bronchus cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3904", "evidence": [ { "id": "3904", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3904" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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:686", "name": "liver carcinoma", "description": "A liver cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:686", "evidence": [ { "id": "686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:686" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:7997", "name": "thyrotoxicosis", "description": "A thyroid gland disease that is characterized by excess thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7997", "evidence": [ { "id": "7997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7997" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8437", "name": "intestinal obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:8437", "evidence": [ { "id": "8437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8437" } ], "weight": 0.0 }, { "disease_id": "DOID:8483", "name": "retinal artery occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:8483", "evidence": [ { "id": "8483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8483" } ], "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: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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8564", "name": "lip cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8564", "evidence": [ { "id": "8564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8564" } ], "weight": 0.0 }, { "disease_id": "DOID:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9478", "name": "postpartum depression", "description": "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.", "url": "https://disease-ontology.org/term/DOID:9478", "evidence": [ { "id": "9478", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9478" } ], "weight": 0.0 }, { "disease_id": "DOID:9498", "name": "pulmonary eosinophilia", "description": "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.", "url": "https://disease-ontology.org/term/DOID:9498", "evidence": [ { "id": "9498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9498" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9663", "name": "aphthous stomatitis", "description": "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.", "url": "https://disease-ontology.org/term/DOID:9663", "evidence": [ { "id": "9663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9663" } ], "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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "T-helper 1 cell differentiation", "id": "GO:0045063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045063", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "negative regulation of chronic inflammatory response to antigenic stimulus", "id": "GO:0002875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002875", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "response to carbon monoxide", "id": "GO:0034465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034465", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "negative regulation of membrane protein ectodomain proteolysis", "id": "GO:0051045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051045", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "negative regulation of cytokine activity", "id": "GO:0060302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060302", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "regulation of response to wounding", "id": "GO:1903034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903034", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P18893", "url": "https://www.uniprot.org/uniprotkb/P18893" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", 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"pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" }, { "name": "intein-mediated protein splicing", "id": "GO:0016539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016539", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" }, { "name": "vitelline membrane formation", "id": "GO:0030704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030704", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" }, { "name": "negative regulation of eye pigmentation", "id": "GO:0048074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048074", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" }, { "name": "camera-type eye photoreceptor cell fate commitment", "id": "GO:0060220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060220", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" 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"site_lbl": "Asn282", "evidence": [ { "id": "P97812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97812#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97812-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Glu95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Knockin mice display brachydactyly type A1 phenotype, characterized by shortened or absent middle phalanges in digits. Defects are due to impaired interaction with PTCH1, leading to decreased smoothened signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "P97812", "url": "https://www.uniprot.org/uniprotkb/P97812" }, { "database": "PubMed", "id": "19252479", "url": "https://glygen.org/publication/PubMed/19252479" } ] } ] } ], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8K3I6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 234, "chemical_mass": 26542.0, "gene_names": "Il27;IL-27-A;IL-27p28;IL-27;IL27-A;Il27a;Il27;Il30;p28", "protein_name": "Interleukin-27 subunit alpha", "disease": [ { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "DOID:8515", "name": "Cor pulmonale", "description": "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.", "url": "https://disease-ontology.org/term/DOID:8515", "evidence": [ { "id": "8515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8515" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "interleukin-27 receptor binding", "id": "GO:0045523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045523", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of T-helper 1 cell differentiation", "id": "GO:0045625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045625", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "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": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "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": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "response to Gram-positive bacterium", "id": "GO:0140459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140459", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I6", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3I6-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Asn85", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q8K3I6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K3I6#ptm_processing" }, { "id": "7ZG0", "database": "PDB", "url": "https://www.rcsb.org/structure/7ZG0" }, { "id": "7ZG0", "database": "PDB", "url": "https://www.rcsb.org/structure/7ZG0" }, { "id": "7ZG0|B|85", "database": "", "url": "" }, { "id": "7ZG0|A|85", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I6-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Lys157", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KCS->NCS).", "chr_id": "7", "chr_pos": "126188701", "evidence": [ { "id": "rs259650924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259650924" } ] } ] } ], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q8R1R4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 235, "chemical_mass": 26764.0, "gene_names": "Il34;2010004A03Rik;Il34", "protein_name": "Interleukin-34", "disease": [], "molecular_function": [ { "name": "macrophage colony-stimulating factor receptor binding", "id": "GO:0005157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005157", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R4", "url": "https://www.uniprot.org/uniprotkb/Q8R1R4" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": 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"database": "UniProtKB", "id": "Q9D0R8", "url": "https://www.uniprot.org/uniprotkb/Q9D0R8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D0R8", "url": "https://www.uniprot.org/uniprotkb/Q9D0R8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D0R8-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0R8", "url": "https://www.uniprot.org/uniprotkb/Q9D0R8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D0R8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0R8" } ] } ] } ], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q6ZWM4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 96, "chemical_mass": 10403.0, "gene_names": "Lsm8;2010003I05Rik;LSM8;Lsm8;Naa38", "protein_name": "U6 snRNA-associated Sm-like protein LSm8", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "Lsm2-8 complex", "id": "GO:0120115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120115", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "U6 snRNP", "id": "GO:0005688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005688", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q6ZWM4", "url": "https://www.uniprot.org/uniprotkb/Q6ZWM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "Q5U419-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5U419", "url": "https://www.uniprot.org/uniprotkb/Q5U419" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 412, "chemical_mass": 43165.0, "gene_names": "Mfsd3;Slc33a2;2310010G13Rik;Mfsd3;Slc33a2", "protein_name": "Solute carrier family 33 member 2", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5U419", "url": "https://www.uniprot.org/uniprotkb/Q5U419" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5U419", "url": "https://www.uniprot.org/uniprotkb/Q5U419" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": 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"Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65059440", "evidence": [ { "id": "rs3389435069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435069" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Val1110", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65059442", "evidence": [ { "id": "rs3389477080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389477080" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "1123", "end_pos": "1123", "site_lbl": "Ser1123", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65059482", "evidence": [ { "id": "rs3389478059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478059" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Trp1149", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65059561", "evidence": [ { "id": "rs1133475605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133475605" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Gly122", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64931751", "evidence": [ { "id": "rs3389471524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389471524" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Met130", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64932302", "evidence": [ { "id": "rs3407956151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407956151" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Pro138", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64932326", "evidence": [ { "id": "rs3389482463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389482463" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Phe139", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64932331", "evidence": [ { "id": "rs3389478060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478060" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Val146", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64932351", "evidence": [ { "id": "rs3389467627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389467627" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Glu163", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64932402", "evidence": [ { "id": "rs3389469190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389469190" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "172", "end_pos": "172", "site_lbl": "His172", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64932428", "evidence": [ { "id": "rs3389487890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389487890" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asp185", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64943501", "evidence": [ { "id": "rs3389425138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425138" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Asn196", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64943533", "evidence": [ { "id": "rs3389478103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478103" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Leu200", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64943545", "evidence": [ { "id": "rs3389491121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491121" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65047729", "evidence": [ { "id": "rs3389386479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389386479" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Gln265", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64958279", "evidence": [ { "id": "rs3389425124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425124" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Trp272", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64958300", "evidence": [ { "id": "rs3389467623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389467623" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Lys275", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64958310", "evidence": [ { "id": "rs3389425120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425120" } ] }, { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64958310", "evidence": [ { "id": "rs3389425120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425120" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Gln311", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64965994", "evidence": [ { "id": "rs3389469167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389469167" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Lys319", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64966020", "evidence": [ { "id": "rs3389476947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389476947" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "346", "end_pos": "346", "site_lbl": "His346", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64973762", "evidence": [ { "id": "rs3389471519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389471519" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Leu402", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64976417", "evidence": [ { "id": "rs3389386473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389386473" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Asp404", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64976424", "evidence": [ { "id": "rs3389469147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389469147" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Lys408", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64976435", "evidence": [ { "id": "rs3389425119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425119" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Asp435", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64976518", "evidence": [ { "id": "rs3389482516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389482516" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Leu530", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64982074", "evidence": [ { "id": "rs3389487838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389487838" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Thr553", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64982143", "evidence": [ { "id": "rs3389435058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435058" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Ala575", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64982209", "evidence": [ { "id": "rs3389442953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442953" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Leu591", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64986761_64986762insTAATGACTGAAAGAGTCTGTAAGGA", "evidence": [ { "id": "rs3406871631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406871631" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Ala602", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64986793", "evidence": [ { "id": "rs3389386501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389386501" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Thr626", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "64988554", "evidence": [ { "id": "rs226078458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226078458" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Val664", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65017746", "evidence": [ { "id": "rs3389425190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425190" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Asp678", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65017788", "evidence": [ { "id": "rs108066806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108066806" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Lys719", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65019293", "evidence": [ { "id": "rs1134035611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134035611" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Asn738", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65019349", "evidence": [ { "id": "rs221782301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221782301" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Lys750", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65019386", "evidence": [ { "id": "rs3413135099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413135099" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "762", "end_pos": "762", "site_lbl": "Glu762", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65019421", "evidence": [ { "id": "rs3389475382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389475382" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Pro764", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65019427", "evidence": [ { "id": "rs241496335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241496335" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Arg772", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "65019452", "evidence": [ { "id": "rs221337213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221337213" } ] } ] }, { "uniprot_canonical_ac": "P27046-1", "start_pos": "785", "end_pos": "785", "site_lbl": 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"gene_names": "Slc11a1;Bcg;Ity1;Ity;Lsh;Nramp1;Nramp;Slc11a1;ity", "protein_name": "Natural resistance-associated macrophage protein 1", "disease": [ { "disease_id": "DOID:0050456", "name": "Buruli ulcer disease", "description": "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.", "url": "https://disease-ontology.org/term/DOID:0050456", "evidence": [ { "id": "0050456", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050456" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060704", "name": "lymphoproliferative syndrome", "description": "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.", "url": "https://disease-ontology.org/term/DOID:0060704", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ], "weight": 0.0 }, { "disease_id": "DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "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: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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "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": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": 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production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "P41251", "url": "https://www.uniprot.org/uniprotkb/P41251" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": 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vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "sperm ejaculation", "id": "GO:0042713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042713", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "smooth muscle contraction involved in micturition", "id": "GO:0060083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060083", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "aggressive behavior", "id": "GO:0002118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002118", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902093", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "positive regulation of hormone secretion", "id": "GO:0046887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046887", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "positive regulation of lymphocyte proliferation", "id": "GO:0050671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050671", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "regulation of uterine smooth muscle contraction", "id": "GO:0070472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070472", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" }, { "name": "phospholipase C-activating tachykinin receptor signaling pathway", "id": "GO:0007209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007209", "evidence": [ { "database": "UniProtKB", "id": "P30548", "url": "https://www.uniprot.org/uniprotkb/P30548" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm head", "id": "GO:0061827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061827", "evidence": [ { "database": "UniProtKB", "id": "P30548", "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. 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:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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. 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"positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor 2 signaling pathway", "id": "GO:0034136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034136", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "detection of biotic stimulus", "id": "GO:0009595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009595", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": 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"" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" 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"https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "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": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "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": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "detection of bacterium", "id": "GO:0016045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016045", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "maintenance of gastrointestinal epithelium", "id": "GO:0030277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030277", "evidence": [ { 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"positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "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": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" 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"database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Z0", "url": "https://www.uniprot.org/uniprotkb/Q8K3Z0" } ], "pmid": "" }, { "name": "cellular response to muramyl dipeptide", "id": "GO:0071225", "url": 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188, "chemical_mass": 21065.0, "gene_names": "Npvf;Npvf;Rfrp", "protein_name": "Pro-FMRFamide-related neuropeptide VF", "disease": [], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9ESQ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESQ8" } ], "pmid": "" }, { "name": "neuropeptide activity", "id": "GO:0160041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160041", "evidence": [ { "database": "UniProtKB", "id": "Q9ESQ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESQ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9ESQ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESQ8" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": 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{ "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": "Q9QXZ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXZ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QXZ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXZ7" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9QXZ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXZ7-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Lys178", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", 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process involved in female pregnancy", "id": "GO:0060135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060135", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "acute inflammatory response to antigenic stimulus", "id": "GO:0002438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002438", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "regulation of membrane depolarization", "id": "GO:0003254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003254", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "somatostatin secretion", "id": "GO:0070253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070253", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" }, { "name": "vasopressin secretion", "id": "GO:0030103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030103", "evidence": [ { "database": "UniProtKB", "id": "Q9WVA8", "url": "https://www.uniprot.org/uniprotkb/Q9WVA8" } ], "pmid": "" } ], 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"database": "UniProtKB", "id": "Q8CG48", "url": "https://www.uniprot.org/uniprotkb/Q8CG48" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CG48", "url": "https://www.uniprot.org/uniprotkb/Q8CG48" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CG48", "url": "https://www.uniprot.org/uniprotkb/Q8CG48" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8CG48", "url": "https://www.uniprot.org/uniprotkb/Q8CG48" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CG48", "url": "https://www.uniprot.org/uniprotkb/Q8CG48" } ], 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"" } ], "biological_process": [ { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX3", "url": "https://www.uniprot.org/uniprotkb/Q3TYX3" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX3", "url": "https://www.uniprot.org/uniprotkb/Q3TYX3" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX3", "url": "https://www.uniprot.org/uniprotkb/Q3TYX3" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX3", "url": "https://www.uniprot.org/uniprotkb/Q3TYX3" } ], 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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: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: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: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:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "regulation of dendritic cell cytokine production", "id": "GO:0002730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002730", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of type III interferon production", "id": "GO:0034346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034346", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "response to dsRNA", "id": "GO:0043331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043331", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "necroptotic signaling pathway", "id": "GO:0097527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097527", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "toll-like receptor 3 signaling pathway", "id": "GO:0034138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034138", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "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": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "inflammatory response to wounding", "id": "GO:0090594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090594", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "regulation of toll-like receptor 3 signaling pathway", "id": "GO:0034139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034139", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q99MB1", "url": "https://www.uniprot.org/uniprotkb/Q99MB1" } ], "pmid": "" }, 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"Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "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": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 7 signaling pathway", "id": "GO:0034157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034157", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 9 signaling pathway", "id": "GO:0034165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034165", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 13 signaling pathway", "id": "GO:0034181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034181", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3LRV9-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "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": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "Q3LRV9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3LRV9-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Lys209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "L", "comment": "Loss of TLR7 signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q3LRV9", "url": "https://www.uniprot.org/uniprotkb/Q3LRV9" }, { "database": "PubMed", "id": "25848864", "url": "https://glygen.org/publication/PubMed/25848864" } ] } ] } ], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "A2ASS6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 35213, "chemical_mass": 3906488.0, "gene_names": "Ttn", "protein_name": "Titin", "disease": [ { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0081341", "name": "congenital myopathy 5", "description": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0081341", "evidence": [ { "id": "0081341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081341" } ], "weight": 0.0 }, { "disease_id": "DOID:0110283", "name": "autosomal recessive limb-girdle muscular dystrophy type 2J", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).", "url": "https://disease-ontology.org/term/DOID:0110283", "evidence": [ { "id": "0110283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110283" } ], "weight": 0.0 }, { "disease_id": "DOID:0110315", "name": "hypertrophic cardiomyopathy 9", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0110315", "evidence": [ { "id": "0110315", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110315" } ], "weight": 0.0 }, { "disease_id": "DOID:0110430", "name": "dilated cardiomyopathy 1G", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0110430", "evidence": [ { "id": "0110430", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110430" } ], "weight": 0.0 }, { "disease_id": "DOID:0111078", "name": "tibial muscular dystrophy", "description": "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0111078", "evidence": [ { "id": "0111078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111078" } ], "weight": 0.0 }, { "disease_id": "DOID:0111188", "name": "myofibrillar myopathy 9", "description": "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.", "url": "https://disease-ontology.org/term/DOID:0111188", "evidence": [ { "id": "0111188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111188" } ], "weight": 0.0 }, { "disease_id": 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myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 } ], "biological_process": [ { "name": "detection of muscle stretch", "id": "GO:0035995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035995", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "regulation of relaxation of cardiac muscle", "id": "GO:1901897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901897", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "skeletal muscle thin filament assembly", "id": "GO:0030240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030240", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "ventricular system development", "id": "GO:0021591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021591", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "striated muscle cell development", "id": "GO:0055002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055002", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "skeletal muscle myosin thick filament assembly", "id": "GO:0030241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030241", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "sarcomerogenesis", "id": "GO:0048769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048769", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "forward locomotion", "id": "GO:0043056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043056", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "heart growth", "id": "GO:0060419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060419", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "positive regulation of striated muscle contraction", "id": "GO:0045989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045989", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "positive regulation of sarcomere organization", "id": "GO:0060298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060298", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "A2ASS6", "url": "https://www.uniprot.org/uniprotkb/A2ASS6" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", 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"sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159750962", "evidence": [ { "id": "rs3388508553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508553" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159678008", "evidence": [ { "id": "rs31286663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31286663" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159678007", "evidence": [ { "id": "rs3388508121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508121" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "1325", "end_pos": "1325", "site_lbl": "His1325", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159751681", "evidence": [ { "id": "rs3388509463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509463" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "1346", "end_pos": "1346", "site_lbl": "Arg1346", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159751743", "evidence": [ { "id": "rs245526776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245526776" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Arg1353", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159751763", "evidence": [ { "id": "rs31274886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31274886" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "1355", "end_pos": "1355", "site_lbl": "Ala1355", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159751770", "evidence": [ { "id": "rs3388510814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510814" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Gln135", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159678019", "evidence": [ { "id": "rs3388509358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509358" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Arg146", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159678052", "evidence": [ { "id": "rs3388509349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509349" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Cys160", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159678094", "evidence": [ { "id": "rs3388508056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508056" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159678104", "evidence": [ { "id": "rs252419221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252419221" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Gly16", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677662", "evidence": [ { "id": "rs3388509391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509391" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Val17", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677665", "evidence": [ { "id": "rs3388511769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511769" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679580", "evidence": [ { "id": "rs3388506044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506044" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Leu233", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679725", "evidence": [ { "id": "rs3388510166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510166" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Asp238", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679739", "evidence": [ { "id": "rs3388506054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506054" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Glu259", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679802", "evidence": [ { "id": "rs221706601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221706601" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Met25", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677691", "evidence": [ { "id": "rs3388506040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506040" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Cys261", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679808", "evidence": [ { "id": "rs3388507375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507375" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679821", "evidence": [ { "id": "rs3388508655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508655" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Cys266", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159679825", "evidence": [ { "id": "rs3388510181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510181" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Met383", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159685918", "evidence": [ { "id": "rs31283782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31283782" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Ile399", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159685965", "evidence": [ { "id": "rs3388509427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509427" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ile3", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677623", "evidence": [ { "id": "rs3388508702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508702" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Thr413", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159686007", "evidence": [ { "id": "rs3411897491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411897491" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Arg42", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677740", "evidence": [ { "id": "rs3388507041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507041" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Val431", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159688830", "evidence": [ { "id": "rs3388507592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507592" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ala51", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677767", "evidence": [ { "id": "rs31287455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31287455" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Arg569", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159695783", "evidence": [ { "id": "rs5525173017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525173017" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Glu584", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159695830", "evidence": [ { "id": "rs225299941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225299941" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ala621", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159701761", "evidence": [ { "id": "rs3388511714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511714" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Glu661", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159712360", "evidence": [ { "id": "rs3388509480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509480" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Pro677", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159712407", "evidence": [ { "id": "rs3388507039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507039" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Leu692", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159713647", "evidence": [ { "id": "rs3539873937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539873937" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Tyr69", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159677823", "evidence": [ { "id": "rs3388507049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507049" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ile718", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159713726", "evidence": [ { "id": "rs3388509462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509462" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Val730", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159713761", "evidence": [ { "id": "rs3388510847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510847" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "781", "end_pos": "781", "site_lbl": "His781", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159714465", "evidence": [ { "id": "rs3388508698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508698" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Lys813", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "159714559", "evidence": [ { "id": "rs31194360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31194360" } ] } ] }, { "uniprot_canonical_ac": "Q8BYI9-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Leu822", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070860", "evidence": [ { "database": "UniProtKB", "id": "P97358", "url": "https://www.uniprot.org/uniprotkb/P97358" } ], "pmid": "" }, { "name": "RNA polymerase I transcription regulator complex", "id": "GO:0000120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000120", "evidence": [ { "database": "UniProtKB", "id": "P97358", "url": "https://www.uniprot.org/uniprotkb/P97358" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P97358", "url": "https://www.uniprot.org/uniprotkb/P97358" } ], "pmid": "" }, { "name": "RNA polymerase I core promoter sequence-specific DNA binding", "id": "GO:0001164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001164", "evidence": [ { "database": "UniProtKB", "id": "P97358", "url": "https://www.uniprot.org/uniprotkb/P97358" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "P36371-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 702, "chemical_mass": 77445.0, "gene_names": "Tap2;ABC18;APT2;Abcb3;Ham-2;Ham2;MTP2;PSF2;RING11;Tap-2;Tap2;Y1;jas", "protein_name": "Antigen peptide transporter 2", "disease": [ { "disease_id": "DOID:0060704", "name": "lymphoproliferative syndrome", "description": "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.", "url": "https://disease-ontology.org/term/DOID:0060704", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ], "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:1025", "name": "tuberculoid leprosy", "description": "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.", "url": "https://disease-ontology.org/term/DOID:1025", "evidence": [ { "id": "1025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1025" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "ABC-type peptide transporter activity", "id": "GO:0015440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015440", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "MHC class I protein binding", "id": "GO:0042288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "ABC-type peptide antigen transporter activity", "id": "GO:0015433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015433", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "tapasin binding", "id": "GO:0046980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046980", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "MHC class Ib protein binding", "id": "GO:0023029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023029", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "peptide transmembrane transporter activity", "id": "GO:1904680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904680", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "MHC protein binding", "id": "GO:0042287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042287", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "MHC class I peptide loading complex", "id": "GO:0042824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042824", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "TAP complex", "id": "GO:0042825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042825", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "protection from natural killer cell mediated cytotoxicity", "id": "GO:0042270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042270", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "peptide transport", "id": "GO:0015833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015833", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I", "id": "GO:0019885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019885", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent", "id": "GO:0002481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002481", "evidence": [ { "database": "UniProtKB", "id": "P36371", "url": "https://www.uniprot.org/uniprotkb/P36371" } ], "pmid": "" }, { "name": "response to molecule of bacterial origin", "id": "GO:0002237", 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lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001718", "evidence": [ { "id": "rs3388883863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883863" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Thr17", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001083", "evidence": [ { "id": "rs224276311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224276311" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Pro195", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001774", "evidence": [ { "id": "rs3388894111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388894111" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Thr213", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001828", "evidence": [ { "id": "rs265160768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265160768" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001828", "evidence": [ { "id": "rs265160768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265160768" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Val246", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004409", "evidence": [ { "id": "rs234121755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234121755" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Gln248", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004416", "evidence": [ { "id": "rs259712864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259712864" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Gly26", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001109", "evidence": [ { "id": "rs31878704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31878704" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Val274", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004492", "evidence": [ { "id": "rs228385111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228385111" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004631", "evidence": [ { "id": "rs244641661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244641661" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Leu34", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001133", "evidence": [ { "id": "rs3388894106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388894106" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ala354", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004831", "evidence": [ { "id": "rs3397061803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397061803" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ile391", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004943", "evidence": [ { "id": "rs218857320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218857320" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Asn399", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004966", "evidence": [ { "id": "rs229855296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229855296" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004979", "evidence": [ { "id": "rs3388905591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388905591" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asp409", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43004996", "evidence": [ { "id": "rs3388883850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883850" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ala415", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43005015", "evidence": [ { "id": "rs251704413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251704413" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Gln41", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001155", "evidence": [ { "id": "rs221740693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221740693" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43005032", "evidence": [ { "id": "rs219275907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219275907" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Lys424", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43005042", "evidence": [ { "id": "rs3397436121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397436121" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Thr437", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43005351", "evidence": [ { "id": "rs244873059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244873059" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Phe459", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43005416", "evidence": [ { "id": "rs3388906469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906469" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ala474", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43005763", "evidence": [ { "id": "rs212725612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212725612" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001172", "evidence": [ { "id": "rs236578510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236578510" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Lys48", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001177", "evidence": [ { "id": "rs253761996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253761996" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Gly49", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001178", "evidence": [ { "id": "rs226081131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226081131" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ala4", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43000981", "evidence": [ { "id": "rs3388894092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388894092" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Asn510", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43008018", "evidence": [ { "id": "rs3388862861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862861" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Glu511", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43008019", "evidence": [ { "id": "rs211722370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211722370" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Pro527", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43008067", "evidence": [ { "id": "rs3545612285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545612285" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Phe543", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43008116", "evidence": [ { "id": "rs3388886766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886766" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Thr554", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43008149", "evidence": [ { "id": "rs3388878497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388878497" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Phe56", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001201", "evidence": [ { "id": "rs3397895996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397895996" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Gly59", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001208", "evidence": [ { "id": "rs31228598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31228598" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asn61", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001214", "evidence": [ { "id": "rs257785628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257785628" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ile62", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001217", "evidence": [ { "id": "rs31095622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31095622" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Gly65", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001227", "evidence": [ { "id": "rs217828793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217828793" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001226", "evidence": [ { "id": "rs254539877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254539877" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001229", "evidence": [ { "id": "rs235219054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235219054" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Phe85", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43001288", "evidence": [ { "id": "rs3388876314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388876314" } ] } ] }, { "uniprot_canonical_ac": "Q920G3-1", "start_pos": "90", "end_pos": "90", "site_lbl": 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"https://www.uniprot.org/uniprotkb/Q99LM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 335, "chemical_mass": 37409.0, "gene_names": "Tada1;2900026B15Rik;D1Ertd251e;Staf42;Tada1l;Tada1", "protein_name": "Transcriptional adapter 1", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" }, { "name": "SAGA complex", "id": "GO:0000124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000124", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "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": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "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": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q99LM9", "url": "https://www.uniprot.org/uniprotkb/Q99LM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "P0CC03-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0CC03", "url": "https://www.uniprot.org/uniprotkb/P0CC03" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 35077.0, "gene_names": "Sult6b1;2410078J06Rik;ST6B1;Sult6b1", "protein_name": "Sulfotransferase 6B1", "disease": [], "molecular_function": [ { "name": "sulfotransferase activity", "id": "GO:0008146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008146", "evidence": [ { "database": "UniProtKB", "id": "P0CC03", "url": "https://www.uniprot.org/uniprotkb/P0CC03" } ], "pmid": "" } ], "biological_process": [ { "name": "sulfation", "id": "GO:0051923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051923", "evidence": [ { "database": "UniProtKB", "id": "P0CC03", "url": "https://www.uniprot.org/uniprotkb/P0CC03" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P0CC03", "url": "https://www.uniprot.org/uniprotkb/P0CC03" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P0CC03", "url": "https://www.uniprot.org/uniprotkb/P0CC03" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.19" }, { "uniprot_canonical_ac": "P21958-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 724, "chemical_mass": 78864.0, "gene_names": "Tap1;ABC17;APT1;Abcb2;Ham-1;Ham1;MTP1;PSF1;RING4;TAP;Tap-1;Tap1;Y3", "protein_name": "Antigen peptide transporter 1", "disease": [ { "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: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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID: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:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "MHC class I protein binding", "id": "GO:0042288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "ABC-type peptide antigen transporter activity", "id": "GO:0015433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015433", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "tapasin binding", "id": "GO:0046980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046980", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "MHC class Ib protein binding", "id": "GO:0023029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023029", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "peptide transmembrane transporter activity", "id": "GO:1904680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904680", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "P21958", "url": "https://www.uniprot.org/uniprotkb/P21958" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": 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"P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "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": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of plasminogen activation", "id": "GO:0010757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010757", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "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": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta production", "id": "GO:0071636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071636", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "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": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": 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migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902043", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of long-chain fatty acid import across plasma membrane", "id": "GO:0010748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010748", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040037", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070487", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "growth plate cartilage development", "id": "GO:0003417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003417", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of dendritic cell antigen processing and presentation", "id": "GO:0002605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002605", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis", "id": "GO:2001027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001027", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of sprouting angiogenesis", "id": "GO:1903671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903671", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II", "id": "GO:0002581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002581", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of cGMP-mediated signaling", "id": "GO:0010754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010754", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide-cGMP mediated signal transduction", "id": "GO:0141151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141151", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "negative regulation of telomere capping", "id": "GO:1904354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904354", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "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": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "telomere maintenance via telomere trimming", "id": "GO:0090737", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "nuclear inclusion body", "id": "GO:0042405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042405", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": 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"" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q8K4Q0", "url": "https://www.uniprot.org/uniprotkb/Q8K4Q0" } ], 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No effect on interaction with ODF2.", "evidence": [ { "database": "UniProtKB", "id": "Q9D411", "url": "https://www.uniprot.org/uniprotkb/Q9D411" }, { "database": "PubMed", "id": "25361759", "url": "https://glygen.org/publication/PubMed/25361759" } ] } ] }, { "uniprot_canonical_ac": "Q9D411-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Lys54", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Loss of kinase activity and no phosphorylation of ODF2. No effect on interaction with ODF2.", "evidence": [ { "database": "UniProtKB", "id": "Q9D411", "url": "https://www.uniprot.org/uniprotkb/Q9D411" }, { "database": "PubMed", "id": "26940607", "url": "https://glygen.org/publication/PubMed/26940607" }, { "database": "PubMed", "id": "25361759", "url": "https://glygen.org/publication/PubMed/25361759" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9D5S1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 317, "chemical_mass": 35235.0, "gene_names": "Tex19.2;4921530G04Rik;Tex19.2;Tex19b", "protein_name": "Testis-expressed protein 19.2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" } ], "molecular_function": [ { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9D6K7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6K7", "url": "https://www.uniprot.org/uniprotkb/Q9D6K7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 262, "chemical_mass": 29371.0, "gene_names": "Ttc33;2410099M07Rik;2900001O04Rik;Osrf;Ttc33", "protein_name": "Tetratricopeptide repeat protein 33", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D6K7-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6K7", "url": "https://www.uniprot.org/uniprotkb/Q9D6K7" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9D735-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 173, "chemical_mass": 18377.0, "gene_names": "Trir;1110002H14Rik;2310036O22Rik;Trir", "protein_name": "Telomerase RNA component-interacting RNase", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008408", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" }, { "name": "5'-3' exonuclease activity", "id": "GO:0008409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008409", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA catabolic process", "id": "GO:0016075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016075", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D735-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9DA17-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DA17", "url": "https://www.uniprot.org/uniprotkb/Q9DA17" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 32067.0, "gene_names": "Tsga13;1700023D02Rik;Tsga13;Vme1", "protein_name": "Testis-specific gene 13 protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9DC60-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 336, "chemical_mass": 36684.0, "gene_names": "Ubiad1;1200002M06Rik;Tere1;Ubiad1", "protein_name": "UbiA prenyltransferase domain-containing protein 1", "disease": [ { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:0060456", "name": "Schnyder corneal dystrophy", "description": "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0060456", "evidence": [ { "id": "0060456", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060456" } ], "weight": 0.0 } ], "biological_process": [ { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "ubiquinone biosynthetic process", "id": "GO:0006744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006744", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "menaquinone biosynthetic process", "id": "GO:0009234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009234", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "vitamin K biosynthetic process", "id": "GO:0042371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042371", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "endothelial cell development", "id": "GO:0001885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001885", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" } ], "molecular_function": [ { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "prenyltransferase activity", "id": "GO:0004659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004659", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "4-hydroxybenzoate polyprenyltransferase activity", "id": "GO:0008412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008412", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "menadiol geranylgeranyltransferase activity", "id": "GO:0120566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120566", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9EP53-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1161, "chemical_mass": 128746.0, "gene_names": "Tsc1;Kiaa0243;Tsc1", "protein_name": "Hamartin", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060564", "name": "spinal disease", "description": "A bone disease that is located_in the spine.", "url": "https://disease-ontology.org/term/DOID:0060564", "evidence": [ { "id": "0060564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060564" } ], "weight": 0.0 }, { "disease_id": "DOID:0060648", "name": "anterior segment dysgenesis", "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, 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the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "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:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:4852", "name": "pleomorphic xanthoastrocytoma", "description": "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.", "url": "https://disease-ontology.org/term/DOID:4852", "evidence": [ { "id": "4852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4852" } ], "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": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "cellular response to decreased oxygen levels", "id": "GO:0036294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036294", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { 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"P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell differentiation", "id": "GO:0045602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045602", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "blood vessel endothelial cell migration", "id": "GO:0043534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043534", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { 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transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q91W78-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W78", "url": "https://www.uniprot.org/uniprotkb/Q91W78" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 30250.0, "gene_names": "Usb1;AA960436;USB1;Usb1", "protein_name": "U6 snRNA 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"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": "P97953", "url": "https://www.uniprot.org/uniprotkb/P97953" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "P97953", "url": "https://www.uniprot.org/uniprotkb/P97953" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P97953", "url": "https://www.uniprot.org/uniprotkb/P97953" } ], "pmid": "" }, { "name": "positive regulation of protein autophosphorylation", "id": "GO:0031954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031954", "evidence": [ { "database": "UniProtKB", "id": "P97953", "url": 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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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:9498", "name": "pulmonary eosinophilia", "description": "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.", "url": "https://disease-ontology.org/term/DOID:9498", "evidence": [ { "id": "9498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9498" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to silicon dioxide", "id": "GO:0034021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034021", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of interleukin-5 production", "id": "GO:0032714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032714", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "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": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to ozone", "id": "GO:0010193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010193", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to fibroblast growth factor", "id": "GO:0071774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071774", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of interleukin-4 production", "id": "GO:0032713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032713", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of interleukin-13 production", "id": "GO:0032696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032696", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipase A2 inhibitor activity", "id": "GO:0019834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019834", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "polychlorinated biphenyl binding", "id": "GO:0097160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097160", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q2NKI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 35167.0, "gene_names": "Vax1;Vax1", "protein_name": "Ventral anterior homeobox 1", "disease": [ { "disease_id": "DOID:0111804", "name": "syndromic microphthalmia 11", "description": "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.", "url": "https://disease-ontology.org/term/DOID:0111804", "evidence": [ { "id": "0111804", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111804" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "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": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "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": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "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": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "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": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding", "id": "GO:0001162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001162", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "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": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q2QI47-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprotkb/Q2QI47" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 5193, "chemical_mass": 569660.0, "gene_names": "Ush2A;Ush2a;A930011D15Rik;A930037M10Rik;Gm676;Gm983;Mush2a;Ush2a;Ushrn", "protein_name": "Usherin", "disease": [ { "disease_id": "DOID:0050439", "name": "Usher syndrome", "description": "A syndrome characterized by a combination of hearing loss and visual impairment.", "url": "https://disease-ontology.org/term/DOID:0050439", "evidence": [ { "id": "0050439", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050439" } ], "weight": 0.0 }, { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050563", "evidence": [ { "id": "0050563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ], "weight": 0.0 }, { "disease_id": "DOID:0110360", "name": "retinitis pigmentosa 39", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.", "url": "https://disease-ontology.org/term/DOID:0110360", "evidence": [ { "id": "0110360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110360" } ], "weight": 0.0 }, { "disease_id": "DOID:0110827", "name": "Usher syndrome type 2", "description": "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.", "url": "https://disease-ontology.org/term/DOID:0110827", "evidence": [ { "id": "0110827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110827" } ], "weight": 0.0 }, { "disease_id": "DOID:0110838", "name": "Usher syndrome type 2A", "description": "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.", "url": "https://disease-ontology.org/term/DOID:0110838", "evidence": [ { "id": "0110838", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110838" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", 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], "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": "Q60931", "url": "https://www.uniprot.org/uniprotkb/Q60931" } ], "pmid": "" }, { "name": "voltage-gated monoatomic ion channel activity", "id": "GO:0005244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005244", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": "https://www.uniprot.org/uniprotkb/Q60931" } ], "pmid": "" }, { "name": "porin activity", "id": "GO:0015288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015288", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": "https://www.uniprot.org/uniprotkb/Q60931" } ], "pmid": "" }, { "name": "voltage-gated monoatomic anion channel activity", "id": "GO:0008308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008308", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": 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regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "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": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q99LH4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 468, "chemical_mass": 52154.0, "gene_names": "Zfp672;Znf672;4930488P06Rik;4930511N19Rik;Zfp672;Znf672", "protein_name": "Zinc finger protein 672", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "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": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "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": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "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": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "B1AX39-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 541, "chemical_mass": 63000.0, "gene_names": "Zcchc7;4930572I07Rik;D4Wsu132e;Zcchc7", "protein_name": "Zinc finger CCHC domain-containing protein 7", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "TRAMP complex", "id": "GO:0031499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031499", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" } ], "biological_process": [ { "name": "nuclear polyadenylation-dependent rRNA catabolic process", "id": "GO:0071035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071035", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "TRAMP-dependent tRNA surveillance pathway", "id": "GO:0071038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071038", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent snoRNA catabolic process", "id": "GO:0071036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071036", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent snRNA catabolic process", "id": "GO:0071037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071037", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent CUT catabolic process", "id": "GO:0071039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071039", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear mRNA surveillance of mRNA 3'-end processing", "id": "GO:0071031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071031", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AX39-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q8K2R5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 619, "chemical_mass": 68347.0, "gene_names": "Zfp668;Znf668;E130018B19Rik;Zfp668;Znf668", "protein_name": "Zinc finger protein 668", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "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": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "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": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "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": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2R5-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ] } ] }, { "uniprot_canonical_ac": "Q8K2R5-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q0P5X5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0P5X5", "url": "https://www.uniprot.org/uniprotkb/Q0P5X5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 716, "chemical_mass": 80339.0, "gene_names": "Zbbx;4931432L23;Zbbx", "protein_name": "Zinc finger B-box domain-containing protein 1", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q0P5X5", "url": "https://www.uniprot.org/uniprotkb/Q0P5X5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q9R0B7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 294, "chemical_mass": 32698.0, "gene_names": "Zfp346;Znf346;Jaz;Zfp346;Znf346", "protein_name": "Zinc finger protein 346", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "152", "end_pos": "152", "site_lbl": "His152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Loss of 40-60% dsRNA binding; when associated with A-203. Binding capacity was reduced to 5-10%; when associated with A-91 and A-203. Loss of binding capacity; when associated with A-91; A-203 and A-257.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] }, { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "203", "end_pos": "203", "site_lbl": "His203", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Binding capacity was reduced 40-60%; when associated with A-91. Binding capacity was reduced to 5-10%; when associated with A-91 and A-152. Loss of binding capacity; when associated with A-91; A-152 and A-257.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] }, { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "257", "end_pos": "257", "site_lbl": "His257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Loss of 5-10 % dsRNA binding capacity; when associated with A-152 and A-203. Loss of binding capacity; when associated with A-91; A-152 and A-203.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] }, { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "91", "end_pos": "91", "site_lbl": "His91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Binding capacity was reduced 40-60%; when associated with A-203. Binding capacity was reduced to 5-10%; when associated with A-152 and A-203. Loss of binding capacity; when associated with A-152; A-203 and A-257.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q80VM4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 562, "chemical_mass": 60792.0, "gene_names": "Zfp579;Znf579;1110003A17Rik;Zfp579;Znf579", "protein_name": "Zinc finger protein 579", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Thr371", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 371, "start_aa": "Thr", "end_pos": 371, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr371", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Thr50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 50, "start_aa": "Thr", "end_pos": 50, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr50", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Thr516", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 516, "start_aa": "Thr", "end_pos": 516, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr516", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "4996364", "evidence": [ { "id": "rs215061549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215061549" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "7", "chr_pos": "4996363", "evidence": [ { "id": "rs262459034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262459034" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q8R1J3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "common_name": "Mouse", "glygen_name": "Mouse", 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"name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "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": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": 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mutation in the GDF1 gene on chromosome 19p12.", "url": "https://disease-ontology.org/term/DOID:0060856", "evidence": [ { "id": "0060856", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060856" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0111766", "name": "X-linked VACTERL association", "description": "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0111766", "evidence": [ { "id": "0111766", "database": "AGR", "url": 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It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:4621", "name": "holoprosencephaly", "description": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.", "url": "https://disease-ontology.org/term/DOID:4621", "evidence": [ { "id": "4621", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ], "weight": 0.0 }, { "disease_id": "DOID:758", "name": "visceral heterotaxy 5", "description": "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:758", "evidence": [ { "id": "758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:758" } ], "weight": 0.0 } ], "biological_process": [ { "name": "left/right pattern formation", "id": "GO:0060972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060972", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "maintenance of cell number", "id": "GO:0098727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098727", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of left/right asymmetry in nervous system", "id": "GO:0035545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035545", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "paraxial mesoderm development", "id": "GO:0048339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of pancreatic left/right asymmetry", "id": "GO:0035469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035469", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of liver left/right asymmetry", "id": "GO:0071910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071910", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "neural plate development", "id": "GO:0001840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001840", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "axial mesoderm development", "id": "GO:0048318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048318", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "outer ear morphogenesis", "id": "GO:0042473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042473", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "atrial cardiac muscle tissue development", "id": "GO:0003228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003228", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "central nervous system segmentation", "id": "GO:0035283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035283", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62521-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Ser450", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { 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} ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q6NZP1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NZP1", "url": "https://www.uniprot.org/uniprotkb/Q6NZP1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1069, "chemical_mass": 120896.0, "gene_names": "Zranb3;4933425L19Rik;AH2;C730006D09;Zranb3", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "disease": [], "cellular_component": [ { "name": "nuclear replication fork", "id": "GO:0043596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043596", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP1", "url": "https://www.uniprot.org/uniprotkb/Q6NZP1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6NZP1", "url": "https://www.uniprot.org/uniprotkb/Q6NZP1" } 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "J3QP08", "url": "https://www.uniprot.org/uniprotkb/J3QP08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "K9J7G2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 34568.0, "gene_names": "Vmn1r241;EG667472;Gm6164;Gm8653;Vmn1r144;Vmn1r251", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "L7MU53-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 34971.0, "gene_names": "Or4c116;MOR233-3;Olfr1221;Or4c116", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "P79568-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 326, "chemical_mass": 37407.0, "gene_names": "H2-Q6;0610037M15Rik;H-2Q6;H2-K1;H2-Q6;Qa-6;Qa6", "protein_name": "", "disease": [ { "disease_id": "DOID:0050426", "name": "Stevens-Johnson syndrome", "description": "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.", "url": "https://disease-ontology.org/term/DOID:0050426", "evidence": [ { "id": "0050426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ], "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:0080160", "name": "Cytomegalovirus retinitis", "description": "A retinitis that has_material_basis_in Cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:0080160", "evidence": [ { "id": "0080160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080160" } ], "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:0080603", "name": "ankylosing spondylitis 1", "description": "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.", "url": "https://disease-ontology.org/term/DOID:0080603", "evidence": [ { "id": "0080603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080603" } ], "weight": 0.0 }, { "disease_id": "DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0080820", "name": "occupational asthma", "description": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.", "url": "https://disease-ontology.org/term/DOID:0080820", "evidence": [ { "id": "0080820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080820" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111079", "name": "birdshot chorioretinopathy", "description": "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.", "url": "https://disease-ontology.org/term/DOID:0111079", "evidence": [ { "id": "0111079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111079" } ], "weight": 0.0 }, { "disease_id": "DOID:0111286", "name": "psoriasis 1", "description": "A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33.", "url": "https://disease-ontology.org/term/DOID:0111286", "evidence": [ { "id": "0111286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111286" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1123", "name": "spondyloarthropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:1123", "evidence": [ { "id": "1123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ], "weight": 0.0 }, { "disease_id": "DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "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:11563", "name": "retinal vasculitis", "description": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.", "url": "https://disease-ontology.org/term/DOID:11563", "evidence": [ { "id": "11563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11563" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "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:12918", "name": "thromboangiitis obliterans", "description": "", "url": "https://disease-ontology.org/term/DOID:12918", "evidence": [ { "id": "12918", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12918" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "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:1761", "name": "Melkersson-Rosenthal syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:1761", "evidence": [ { "id": "1761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1761" } ], "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: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:2703", "name": "synovitis", "description": "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.", "url": "https://disease-ontology.org/term/DOID:2703", "evidence": [ { "id": "2703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2703" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3611", "name": "acute retinal necrosis syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:3611", "evidence": [ { "id": "3611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3611" } ], "weight": 0.0 }, { "disease_id": "DOID:3875", "name": "thrombophlebitis", "description": "A phlebitis that results from a blood clot in the vessel.", "url": "https://disease-ontology.org/term/DOID:3875", "evidence": [ { "id": "3875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3875" } ], "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:419", "name": "scleroderma", "description": "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.", "url": "https://disease-ontology.org/term/DOID:419", "evidence": [ { "id": "419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:419" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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:525", "name": "central nervous system vasculitis", "description": "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.", "url": "https://disease-ontology.org/term/DOID:525", "evidence": [ { "id": "525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:525" } ], "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:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 } ], "biological_process": [ { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" } ], "cellular_component": [ { "name": "MHC class Ib protein complex", "id": "GO:0032398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032398", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "MHC class I protein complex", "id": "GO:0042612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042612", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "Golgi medial cisterna", "id": "GO:0005797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005797", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "cis-Golgi network membrane", "id": "GO:0033106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033106", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "MHC class I peptide loading complex", "id": "GO:0042824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042824", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "lumenal side of endoplasmic reticulum membrane", "id": "GO:0098553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098553", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" } ], "molecular_function": [ { "name": "natural killer cell lectin-like receptor binding", "id": "GO:0046703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046703", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "beta-2-microglobulin binding", "id": "GO:0030881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030881", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "TAP binding", "id": "GO:0046977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046977", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "T cell receptor binding", "id": "GO:0042608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042608", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": 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