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], "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": "Q9EQH4", "url": "https://www.uniprot.org/uniprotkb/Q9EQH4" } ], "pmid": "" }, { "name": "maintenance of protein location in nucleus", "id": "GO:0051457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051457", "evidence": [ { "database": "UniProtKB", "id": "Q9EQH4", "url": "https://www.uniprot.org/uniprotkb/Q9EQH4" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "Q9EQH4", "url": "https://www.uniprot.org/uniprotkb/Q9EQH4" } ], "pmid": "" }, { "name": "inner cell mass cell proliferation", "id": "GO:0001833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001833", "evidence": [ { "database": "UniProtKB", "id": "Q9EQH4", "url": 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"evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "biological_process": [ { "name": "RNA destabilization", "id": "GO:0050779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050779", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in immune response", "id": "GO:0002718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002718", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "positive regulation of membrane protein ectodomain proteolysis", "id": "GO:0051044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051044", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "regulation of T cell cytokine production", "id": "GO:0002724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002724", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "positive regulation of myelination", "id": "GO:0031643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031643", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "pulmonary valve development", "id": "GO:0003177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003177", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix constituent secretion", "id": "GO:0003332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003332", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in morphogenesis", "id": "GO:1902339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902339", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "aortic valve development", "id": "GO:0003176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003176", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "regulation of neuroinflammatory response", "id": "GO:0150077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150077", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "negative regulation of neuroinflammatory response", "id": "GO:0150079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150079", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "glial cell-neuron signaling", "id": "GO:0150098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150098", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "varicosity", "id": "GO:0043196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043196", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": 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The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4398", "name": "pustulosis of palm and sole", "description": "", "url": "https://disease-ontology.org/term/DOID:4398", "evidence": [ { "id": "4398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4398" } ], "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:8505", "name": "dermatitis herpetiformis", "description": "", "url": "https://disease-ontology.org/term/DOID:8505", "evidence": [ { "id": "8505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8505" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9155", "name": "mucocutaneous leishmaniasis", "description": "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.", "url": "https://disease-ontology.org/term/DOID:9155", "evidence": [ { "id": "9155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9155" } ], "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:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002925", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "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": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "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": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of chronic inflammatory response to antigenic stimulus", "id": "GO:0002876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002876", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor superfamily complex", "id": "GO:0002947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002947", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P09225-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "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": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "P09225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P09225#ptm_processing" } ] } ] } ], "record_id": "P09225-1" }, { "uniprot_canonical_ac": "P15306-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15306", "url": "https://www.uniprot.org/uniprotkb/P15306" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 577, "chemical_mass": 61868.0, "gene_names": "Thbd;CD141;TM;Thbd", "protein_name": "Thrombomodulin", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.", "url": "https://disease-ontology.org/term/DOID:0080301", "evidence": [ { "id": "0080301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ], "weight": 0.0 }, { "disease_id": "DOID:0111908", "name": "thrombophilia due to thrombomodulin defect", "description": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.", "url": "https://disease-ontology.org/term/DOID:0111908", "evidence": [ { "id": "0111908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111908" } ], "weight": 0.0 }, { "disease_id": "DOID:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain.", "url": "https://disease-ontology.org/term/DOID:0112313", "evidence": [ { "id": "0112313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112313" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3410", "name": "carotid artery thrombosis", "description": "", "url": "https://disease-ontology.org/term/DOID:3410", "evidence": [ { "id": "3410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3410" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. 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"chr_pos": "148248471", "evidence": [ { "id": "rs3388584032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388584032" } ] } ] }, { "uniprot_canonical_ac": "P15306-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Gln53", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148249708", "evidence": [ { "id": "rs3388584034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388584034" } ] } ] }, { "uniprot_canonical_ac": "P15306-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Asp571", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148248156", "evidence": [ { "id": "rs3388593805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388593805" } ] } ] }, { "uniprot_canonical_ac": "P15306-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Gly83", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148249620", "evidence": [ { "id": "rs230153444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230153444" } ] } ] } ], "record_id": "P15306-1" }, { "uniprot_canonical_ac": "P15533-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 496, "chemical_mass": 57330.0, "gene_names": "Trim30a;Rpt-1;Rpt1;Trim30a;Trim30", "protein_name": "Tripartite motif-containing protein 30A", "disease": [], "biological_process": [ { "name": "regulation of viral entry into host cell", "id": "GO:0046596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046596", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "suppression of viral release by host", "id": "GO:0044790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044790", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "negative regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "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": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "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": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "positive regulation of viral entry into host cell", "id": "GO:0046598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046598", "evidence": [ { "database": "UniProtKB", "id": "P15533", "url": "https://www.uniprot.org/uniprotkb/P15533" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": 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"Q91V04", "url": "https://www.uniprot.org/uniprotkb/Q91V04" }, { "database": "PubMed", "id": "21237175", "url": "https://glygen.org/publication/PubMed/21237175" } ] } ] }, { "uniprot_canonical_ac": "Q91V04-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Asn355", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No effect on glycosylation; when associated with Q-120.", "evidence": [ { "database": "UniProtKB", "id": "Q91V04", "url": "https://www.uniprot.org/uniprotkb/Q91V04" }, { "database": "PubMed", "id": "21237175", "url": "https://glygen.org/publication/PubMed/21237175" } ] } ] } ], "record_id": "Q91V04-1" }, { "uniprot_canonical_ac": "Q7TQA8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQA8", "url": "https://www.uniprot.org/uniprotkb/Q7TQA8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA8", "url": "https://www.uniprot.org/uniprotkb/Q7TQA8" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA8", "url": "https://www.uniprot.org/uniprotkb/Q7TQA8" } ], "pmid": "" } ], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception of bitter taste", "id": "GO:0001580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA8", "url": "https://www.uniprot.org/uniprotkb/Q7TQA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQA8-1" }, { "uniprot_canonical_ac": "Q8K243-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 485, "chemical_mass": 56098.0, "gene_names": "Trim68;Rnf137", "protein_name": "E3 ubiquitin-protein ligase TRIM68", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "Q8K243", "url": "https://www.uniprot.org/uniprotkb/Q8K243" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K243-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Thr297", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 297, "start_aa": "Thr", "end_pos": 297, "end_aa": "Thr", "residue": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "Golgi stack", "id": "GO:0005795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005795", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" } ], "biological_process": [ { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "COPII vesicle coating", "id": "GO:0048208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048208", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": "https://www.uniprot.org/uniprotkb/Q9ES56" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9ES56", "url": 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No significant effect on ion channel sensitivity to menthol plus cold stimuli.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" }, { "database": "PubMed", "id": "19176480", "url": "https://glygen.org/publication/PubMed/19176480" }, { "database": "PubMed", "id": "22493431", "url": "https://glygen.org/publication/PubMed/22493431" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Reduced ion channel sensitivity to cold stimuli or menthol plus cold stimuli.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" }, { "database": "PubMed", "id": "19176480", "url": "https://glygen.org/publication/PubMed/19176480" }, { "database": "PubMed", "id": "22493431", "url": "https://glygen.org/publication/PubMed/22493431" } ] }, { "sequence_org": "N", "sequence_mut": "Q", "comment": "Abolishes glycosylation. Shifts threshold of temperature activation from 26.5 to 24 degrees Celsius. Reduced cell surface expression, association with lipid rafts and response to cold.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" }, { "database": "PubMed", "id": "19176480", "url": "https://glygen.org/publication/PubMed/19176480" }, { "database": "PubMed", "id": "22493431", "url": "https://glygen.org/publication/PubMed/22493431" } ] } ] }, { "uniprot_canonical_ac": "Q8R4D5-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ile301", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVC->NVC).", "chr_id": "1", "chr_pos": "88260424", "evidence": [ { "id": "rs3388486880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486880" } ] } ] }, { "uniprot_canonical_ac": "Q8R4D5-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Ser921", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "1", "chr_pos": "88292762", "evidence": [ { "id": "rs3388487450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388487450" } ] } ] }, { "uniprot_canonical_ac": "Q8R4D5-1", "start_pos": "821", "end_pos": "821", "site_lbl": "Asn821", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No effect on glycosylation or ability to form functional channels.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" } ] } ] }, { "uniprot_canonical_ac": "Q8R4D5-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Cys929", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ion channel activity. No effect on cell surface expression. Reduced glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" } ] } ] }, { "uniprot_canonical_ac": "Q8R4D5-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Cys940", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ion channel activity. No effect on cell surface expression. Reduced glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" } ] } ] } ], "record_id": "Q8R4D5-1" }, { "uniprot_canonical_ac": "Q8R4U6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 593, "chemical_mass": 69003.0, "gene_names": "Top1mt;2900052H09Rik;Top1mt", "protein_name": "DNA topoisomerase I, mitochondrial", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" }, { "name": "DNA topoisomerase type I (single strand cut, ATP-independent) activity", "id": "GO:0003917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003917", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" }, { "name": "DNA topological change", "id": "GO:0006265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006265", "evidence": [ { "database": "UniProtKB", "id": "Q8R4U6", "url": "https://www.uniprot.org/uniprotkb/Q8R4U6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R4U6-1" }, { "uniprot_canonical_ac": "Q8VD63-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VD63", "url": "https://www.uniprot.org/uniprotkb/Q8VD63" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 406, "chemical_mass": 44811.0, "gene_names": "Tspyl4;2610102M01Rik;B230210I21Rik;D10Bwg0791e;Tspyl4", "protein_name": "Testis-specific Y-encoded-like protein 4", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8VD63", "url": "https://www.uniprot.org/uniprotkb/Q8VD63" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q8VD63", "url": "https://www.uniprot.org/uniprotkb/Q8VD63" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VD63", "url": "https://www.uniprot.org/uniprotkb/Q8VD63" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8VD63", "url": "https://www.uniprot.org/uniprotkb/Q8VD63" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "Q8VD63", "url": "https://www.uniprot.org/uniprotkb/Q8VD63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VD63-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q8VD63", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8VD63" }, { "database": "iPTMnet", "id": "Q8VD63", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VD63" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] } ], "record_id": "Q8VD63-1" }, { "uniprot_canonical_ac": "Q9CY00-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CY00", "url": "https://www.uniprot.org/uniprotkb/Q9CY00" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 664, "chemical_mass": 76096.0, "gene_names": "Ift70b;2510042P03Rik;Ift70b;Tcc30b;Ttc30b", "protein_name": "Intraflagellar transport protein 70B", "disease": [], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9CY00", "url": "https://www.uniprot.org/uniprotkb/Q9CY00" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9CY00", "url": "https://www.uniprot.org/uniprotkb/Q9CY00" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q9CY00", "url": "https://www.uniprot.org/uniprotkb/Q9CY00" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q9CY00", "url": 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"UniProtKB", "id": "Q9CY00", "url": "https://www.uniprot.org/uniprotkb/Q9CY00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CY00-1" }, { "uniprot_canonical_ac": "Q9CYB0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 407, "chemical_mass": 46958.0, "gene_names": "Trim13;3110001L12Rik;CAR;LEU5;RNF77;Rfp2;Trim13", "protein_name": "E3 ubiquitin-protein ligase TRIM13", "disease": [], "biological_process": [ { "name": "negative regulation of viral transcription", "id": "GO:0032897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032897", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "suppression of viral release by host", "id": "GO:0044790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044790", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "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": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { 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"cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9CYB0", "url": "https://www.uniprot.org/uniprotkb/Q9CYB0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CYB0-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Asn388", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSLVALNNVAEFICK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->HVS).", "chr_id": "14", "chr_pos": "61843146", "evidence": [ { "id": "rs3405148892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405148892" } ] } ] }, { "uniprot_canonical_ac": "Q9CYB0-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, 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"" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q9DCG9", "url": "https://www.uniprot.org/uniprotkb/Q9DCG9" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9DCG9", "url": "https://www.uniprot.org/uniprotkb/Q9DCG9" } ], "pmid": "" }, { "name": "tRNA methyltransferase complex", "id": "GO:0043527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043527", "evidence": [ { "database": "UniProtKB", "id": "Q9DCG9", "url": "https://www.uniprot.org/uniprotkb/Q9DCG9" } ], "pmid": "" }, { "name": "methyltransferase complex", "id": "GO:0034708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034708", "evidence": [ { "database": "UniProtKB", "id": "Q9DCG9", "url": "https://www.uniprot.org/uniprotkb/Q9DCG9" } ], "pmid": "" }, { "name": "tRNA 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"url": "https://www.alliancegenome.org/disease/DOID:0050697" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13252", "name": "mesenteric vascular occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:13252", "evidence": [ { "id": "13252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13252" } ], "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: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: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: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: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: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:3798", "name": "pleural empyema", "description": "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.", "url": "https://disease-ontology.org/term/DOID:3798", "evidence": [ { "id": "3798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3798" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neutrophil-mediated killing of gram-negative bacterium", "id": "GO:0070945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070945", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell apoptotic process", "id": "GO:0010666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "neutrophil extravasation", "id": "GO:0072672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072672", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "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": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "receptor decoy activity", "id": "GO:0140319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140319", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKE2-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asn191", "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": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "Q9JKE2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2#ptm_processing" } ] } ] } ], "record_id": "Q9JKE2-1" }, { "uniprot_canonical_ac": "Q9JKT4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 300, "chemical_mass": 34416.0, "gene_names": "Tas2r105;T2R05;T2R9;T2r5;Tas2r105;Tas2r5;Tas2r9;mGR05;mt2r5", "protein_name": "Taste receptor type 2 member 105", "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": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "pmid": "" }, { "name": "taste receptor activity", "id": "GO:0008527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008527", "evidence": [ { "database": "UniProtKB", "id": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "pmid": "" }, { "name": "bitter taste receptor activity", "id": "GO:0033038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033038", "evidence": [ { "database": "UniProtKB", "id": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "pmid": "" } ], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception of bitter taste", "id": "GO:0001580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "pmid": "" }, { "name": "sensory perception of bitter taste", "id": "GO:0050913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050913", "evidence": [ { "database": "UniProtKB", "id": "Q9JKT4", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKT4-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "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": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "Q9JKT4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JKT4#ptm_processing" } ] } ] } ], "record_id": "Q9JKT4-1" }, { "uniprot_canonical_ac": "Q9QUQ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9QUQ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 974, "chemical_mass": 111575.0, "gene_names": "Trpc4;CCE1;STRPC4;Trp4;Trpc4;Trrp4", "protein_name": "Short transient receptor potential channel 4", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"chr_id": "14", "chr_pos": "119328126", "evidence": [ { "id": "rs3389354696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354696" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1348", "end_pos": "1348", "site_lbl": "Phe1348", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119240329", "evidence": [ { "id": "rs3389337913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389337913" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1366", "end_pos": "1366", "site_lbl": "Trp1366", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119240275", "evidence": [ { "id": "rs3413101202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413101202" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Ala1367", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119240272", "evidence": [ { "id": "rs3389269651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269651" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1369", "end_pos": "1369", "site_lbl": "His1369", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119240264", "evidence": [ { "id": "rs3389269597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269597" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1395", "end_pos": "1395", "site_lbl": "Asp1395", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119239246", "evidence": [ { "id": "rs3413151136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413151136" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Arg1396", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119239245_119239246insCCACACTACCTCAACCA", "evidence": [ { "id": "rs3389363544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363544" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1418", "end_pos": "1418", "site_lbl": "Leu1418", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235622", "evidence": [ { "id": "rs3389350240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350240" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Trp1437", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235565", "evidence": [ { "id": "rs3551531704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551531704" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Trp1441", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235552", "evidence": [ { "id": "rs3389350202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350202" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1445", "end_pos": "1445", "site_lbl": "Glu1445", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235541", "evidence": [ { "id": "rs3389343977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343977" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1463", "end_pos": "1463", "site_lbl": "Glu1463", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232463", "evidence": [ { "id": "rs3389350178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350178" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1469", "end_pos": "1469", "site_lbl": "Ala1469", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232445", "evidence": [ { "id": "rs3389347626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347626" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Leu146", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119328085", "evidence": [ { "id": "rs3389337955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389337955" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1496", "end_pos": "1496", "site_lbl": "Ser1496", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232363", "evidence": [ { "id": "rs3389300880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300880" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232362", "evidence": [ { "id": "rs3389300958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300958" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Val176", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119326684", "evidence": [ { "id": "rs48589573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48589573" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Thr19", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119336698", "evidence": [ { "id": "rs3389354734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354734" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Tyr219", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119323625", "evidence": [ { "id": "rs246713616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246713616" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ala22", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119266433", "evidence": [ { "id": "rs49716497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49716497" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Lys235", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119323577", "evidence": [ { "id": "rs3389311657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389311657" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Thr240", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119323561", "evidence": [ { "id": "rs3389363545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363545" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Thr245", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119286601", "evidence": [ { "id": "rs3551531548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551531548" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Val256", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119321303", "evidence": [ { "id": "rs50118097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50118097" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Phe262", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "WLR*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119321285_119321286insCTCCACACTACCTCA", "evidence": [ { "id": "rs3389350042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350042" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Leu263", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119321282", "evidence": [ { "id": "rs3389343984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343984" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Gln301", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119319119", "evidence": [ { "id": "rs3389349987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389349987" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Gln306", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119315151", "evidence": [ { "id": "rs3389363513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363513" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Arg347", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119312768", "evidence": [ { "id": "rs3551374421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551374421" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Lys364", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119308290", "evidence": [ { "id": "rs3389300956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300956" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Phe371", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119308268", "evidence": [ { "id": "rs3389350233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350233" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Arg376", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119308253", "evidence": [ { "id": "rs49432098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49432098" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Leu39", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119266380", "evidence": [ { "id": "rs3389318071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389318071" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Leu3", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119336747", "evidence": [ { "id": "rs222125728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222125728" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119298705", "evidence": [ { "id": "rs242199668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242199668" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Val421", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119298698", "evidence": [ { "id": "rs3389300934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300934" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Thr522", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119295060", "evidence": [ { "id": "rs3389318018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389318018" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Arg559", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292123", "evidence": [ { "id": "rs227612327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227612327" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ile560", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292120", "evidence": [ { "id": "rs257289533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257289533" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292095", "evidence": [ { "id": "rs227111446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227111446" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Pro575", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292074", "evidence": [ { "id": "rs3404241752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404241752" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Ala577", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292068", "evidence": [ { "id": "rs3405449303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405449303" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Leu580", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292060", "evidence": [ { "id": "rs48940180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48940180" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Ile582", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292054", "evidence": [ { "id": "rs244829834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244829834" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Thr598", 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"biological_process": [ { "name": "sulfation", "id": "GO:0051923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051923", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "3'-phosphoadenosine 5'-phosphosulfate metabolic process", "id": "GO:0050427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050427", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "thyroid hormone metabolic process", "id": "GO:0042403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042403", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "sensory perception of itch", "id": "GO:0160025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160025", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "K7N6K9", "url": "https://www.uniprot.org/uniprotkb/K7N6K9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N6K9-1" }, { "uniprot_canonical_ac": "K9J724-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 93, "chemical_mass": 10535.0, "gene_names": "Defa36;Defa37;Gm14850", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" }, { "name": "azurophil granule", "id": "GO:0042582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042582", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" } ], "biological_process": [ { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "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": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" }, { "name": "disruption of plasma membrane integrity in another organism", "id": "GO:0051673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051673", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" }, { "name": "pore-forming activity", "id": "GO:0140911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140911", "evidence": [ { "database": "UniProtKB", "id": "K9J724", "url": "https://www.uniprot.org/uniprotkb/K9J724" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K9J724-1" }, { "uniprot_canonical_ac": "K9J7B2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 531, "chemical_mass": 60491.0, "gene_names": "Ugt1a6b;A9';Ugt1a6b;Ugt1a9", "protein_name": "UDP-glucuronosyltransferase", "disease": [ { "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "flavone metabolic process", "id": "GO:0051552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051552", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "4-chlorobiphenyl metabolic process", "id": "GO:0018880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018880", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" } ], "molecular_function": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "K9J7B2", "url": "https://www.uniprot.org/uniprotkb/K9J7B2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K9J7B2-1" }, { "uniprot_canonical_ac": "Q5R1A4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5R1A4", "url": "https://www.uniprot.org/uniprotkb/Q5R1A4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 116, "chemical_mass": 13192.0, "gene_names": "Trdv2-2", "protein_name": "", "disease": [], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q5R1A4", "url": "https://www.uniprot.org/uniprotkb/Q5R1A4" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q5R1A4", "url": "https://www.uniprot.org/uniprotkb/Q5R1A4" } ], "pmid": "" } ], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "Q5R1A4", "url": "https://www.uniprot.org/uniprotkb/Q5R1A4" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "Q5R1A4", "url": "https://www.uniprot.org/uniprotkb/Q5R1A4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5R1A4-1" }, { "uniprot_canonical_ac": "Q61718-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 190, "chemical_mass": 21903.0, "gene_names": "Ifna15;Gm12597;If1ai1;Ifna15;Ifnaa;MuIFN-alpha-A", "protein_name": "", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 } ], "biological_process": [ { "name": "B cell activation involved in immune response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "Q61718", "url": "https://www.uniprot.org/uniprotkb/Q61718" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61718-1" }, { "uniprot_canonical_ac": "Q78MG2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q78MG2", "url": "https://www.uniprot.org/uniprotkb/Q78MG2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 312, "chemical_mass": 34985.0, "gene_names": "Or2m13;Olfr165", "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": "Q78MG2", "url": "https://www.uniprot.org/uniprotkb/Q78MG2" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": 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"GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q78MG2", "url": "https://www.uniprot.org/uniprotkb/Q78MG2" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q78MG2", "url": "https://www.uniprot.org/uniprotkb/Q78MG2" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q78MG2", "url": "https://www.uniprot.org/uniprotkb/Q78MG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q78MG2-1" }, { "uniprot_canonical_ac": "Q7M762-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 756, "chemical_mass": 85744.0, "gene_names": "Adam39;1700056P18Rik;Adam39", "protein_name": "", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" }, { "name": "sperm head plasma membrane", "id": "GO:1990913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990913", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q7M762", "url": "https://www.uniprot.org/uniprotkb/Q7M762" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7M762-1" }, { "uniprot_canonical_ac": "Q7TQS8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 35343.0, "gene_names": "Or2v2;MOR276-2;Olfr1396;Or2v2", "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": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "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": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q7TQS8", "url": "https://www.uniprot.org/uniprotkb/Q7TQS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQS8-1" }, { "uniprot_canonical_ac": "Q8VF33-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VF33", "url": "https://www.uniprot.org/uniprotkb/Q8VF33" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 319, "chemical_mass": 35700.0, "gene_names": "Or6z6;MOR103-11;Olfr1347;Or6z6", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor 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signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8VF33", "url": "https://www.uniprot.org/uniprotkb/Q8VF33" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VF33", "url": "https://www.uniprot.org/uniprotkb/Q8VF33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VF33-1" }, { "uniprot_canonical_ac": "Q7TQY2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQY2", "url": "https://www.uniprot.org/uniprotkb/Q7TQY2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 34565.0, "gene_names": 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 34670.0, "gene_names": "Or4k38;MOR248-16;MOR248-2;Olfr1282;Olfr1287;Olfr1557;Or4k38", "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": "Q7TQY5", "url": "https://www.uniprot.org/uniprotkb/Q7TQY5" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TQY5", "url": "https://www.uniprot.org/uniprotkb/Q7TQY5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQY5", "url": 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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: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: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: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: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: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: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: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: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": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "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": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "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": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "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": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "MHC class I protein complex", "id": "GO:0042612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042612", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "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": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" } ], "molecular_function": [ { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "beta-2-microglobulin binding", "id": "GO:0030881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030881", "evidence": [ { "database": "UniProtKB", "id": "Q6W9L1", "url": "https://www.uniprot.org/uniprotkb/Q6W9L1" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": 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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: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. 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"L7N224", "url": "https://www.uniprot.org/uniprotkb/L7N224" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N224-1" }, { "uniprot_canonical_ac": "Q5GAN1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 16719.0, "gene_names": "Ang5;Ang5", "protein_name": "", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in 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"https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 } ], "biological_process": [ { "name": "negative regulation of translation in response to stress", "id": "GO:0032055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032055", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": 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"" }, { "name": "positive regulation of lysosome organization", "id": "GO:1905673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905673", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE9", "url": "https://www.uniprot.org/uniprotkb/Q9DCE9" } ], "pmid": "" }, { "name": "negative regulation of cGAS/STING signaling pathway", "id": "GO:0160049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160049", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE9", "url": "https://www.uniprot.org/uniprotkb/Q9DCE9" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE9", "url": "https://www.uniprot.org/uniprotkb/Q9DCE9" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE9", "url": 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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. 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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: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: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: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: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: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: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 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "MHC class Ib protein complex", "id": "GO:0032398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032398", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "MHC class I protein complex", "id": "GO:0042612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042612", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "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": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" } ], "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": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "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": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "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": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" } ], "molecular_function": [ { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "beta-2-microglobulin binding", "id": "GO:0030881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030881", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "TAP binding", "id": "GO:0046977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046977", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O19443", "url": "https://www.uniprot.org/uniprotkb/O19443" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O19443-1" } ]