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"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": "batch.mouse.20" }, { "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": "batch.mouse.20" }, { "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": "batch.mouse.20" }, { "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": "batch.mouse.20" }, { "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": 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1938, "chemical_mass": 223561.0, "gene_names": "Myh13;MyHC-eo;Myh13", "protein_name": "", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by 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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 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": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "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": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004549", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "angiogenin-PRI complex", "id": "GO:0032311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032311", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN1", "url": "https://www.uniprot.org/uniprotkb/Q5GAN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.20" }, { "uniprot_canonical_ac": "Q5NC59-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5NC59", "url": "https://www.uniprot.org/uniprotkb/Q5NC59" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 308, "chemical_mass": 34508.0, "gene_names": "Or9e1;MOR222-1;Olfr311;Olfr312;Or9e1", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": 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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": "batch.mouse.20" }, { "uniprot_canonical_ac": "Q3UT54-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 335, "chemical_mass": 37777.0, "gene_names": "Obox3;Obox3;Ohx", "protein_name": "Oocyte-specific homeobox protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" }, { "name": "maternal-to-zygotic transition of gene expression", "id": "GO:0160021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160021", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q3UT54", "url": "https://www.uniprot.org/uniprotkb/Q3UT54" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "A0A1W2P728-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P728", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P728" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 225, "chemical_mass": 22894.0, "gene_names": "Krtap10-31;EG622629;Gm10318;Krtap10-31", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P728", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P728" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P728", "url": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 147, "chemical_mass": 15748.0, "gene_names": "Hbb-bs;Beta-s;Hbb-bs;Hbb-bt;Hbbt1;Hbbt2", "protein_name": "", "disease": [ { "disease_id": "DOID:0080770", "name": "autosomal dominant beta thalassemia", "description": "A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.", "url": "https://disease-ontology.org/term/DOID:0080770", "evidence": [ { "id": "0080770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080770" } ], "weight": 0.0 }, { "disease_id": "DOID:0080773", "name": "delta beta-thalassemia", "description": "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.", "url": "https://disease-ontology.org/term/DOID:0080773", "evidence": [ { "id": "0080773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080773" } ], "weight": 0.0 }, { "disease_id": "DOID:0081445", "name": "sickle cell disease", "description": "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia).", "url": "https://disease-ontology.org/term/DOID:0081445", "evidence": [ { "id": "0081445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081445" } ], "weight": 0.0 }, { "disease_id": "DOID:0111363", "name": "Heinz body anemia", "description": "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.", "url": "https://disease-ontology.org/term/DOID:0111363", "evidence": [ { "id": "0111363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111363" } ], "weight": 0.0 }, { "disease_id": "DOID:0111632", "name": "familial erythrocytosis 6", "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.", "url": "https://disease-ontology.org/term/DOID:0111632", "evidence": [ { "id": "0111632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111632" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1099", "name": "alpha thalassemia", "description": "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.", "url": "https://disease-ontology.org/term/DOID:1099", "evidence": [ { "id": "1099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2859", "name": "hemoglobin C disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2859", "evidence": [ { "id": "2859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2859" } ], "weight": 0.0 }, { "disease_id": "DOID:2860", "name": "hemoglobinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:2860", "evidence": [ { "id": "2860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2860" } ], "weight": 0.0 }, { "disease_id": "DOID:589", "name": "congenital hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:589", "evidence": [ { "id": "589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:589" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 } 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "oxygen carrier activity", "id": "GO:0005344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005344", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "hemoglobin beta binding", "id": "GO:0031722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031722", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" } ], "biological_process": [ { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "cellular oxidant detoxification", "id": "GO:0098869", "url": 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"id": "2124", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2124" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2124", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2124" } ] }, { "glytoucan_ac": "G93180LE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2124", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2124" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Gly118", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961302", "evidence": [ { "id": "rs3389190997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389190997" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Arg147", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of 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"id": "rs3389211609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211609" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ala327", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100964893", "evidence": [ { "id": "rs29468351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29468351" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Arg36", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961057", "evidence": [ { "id": "rs3389138201", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "O88325-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Val388", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967213", "evidence": [ { "id": "rs3389178251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178251" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Cys403", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967259", "evidence": [ { "id": "rs3389201939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389201939" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Leu414", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967292", "evidence": [ { "id": "rs3389138142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389138142" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Ala417", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967300", "evidence": [ { "id": "rs51647563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51647563" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ala427", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation 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"end_pos": "455", "site_lbl": "Leu455", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967414", "evidence": [ { "id": "rs3389204508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389204508" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Val499", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967546", "evidence": [ { "id": "rs3389190910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389190910" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Tyr500", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967550", "evidence": [ { "id": "rs3389202247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202247" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Gly504", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967561", "evidence": [ { "id": "rs3389190991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389190991" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Ala526", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of 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The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "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": "Q810G1", "url": 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"https://www.uniprot.org/uniprotkb/Q810G1" } ], "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": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { 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"plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R261", "url": "https://www.uniprot.org/uniprotkb/Q8R261" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q8R261", "url": "https://www.uniprot.org/uniprotkb/Q8R261" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q8R261", "url": "https://www.uniprot.org/uniprotkb/Q8R261" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "Q8R261", "url": "https://www.uniprot.org/uniprotkb/Q8R261" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "Q8R261", "url": "https://www.uniprot.org/uniprotkb/Q8R261" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R261-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Asn155", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AGSSLNR", "relation": "attached", "comment": "reported site N75 is on non-canonical isoform A0A2I3BRZ5-1 which maps to canonical isoform site Q8R261-1:155", "icn3d_view": {}, "start_pos": 155, "start_aa": "Asn", "end_pos": 155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn155", "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" } ] } ] } ], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q8VF31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 35347.0, "gene_names": "Or9a4;MOR120-2;Olfr460;Or9a4", "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": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "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": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q8VF59-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VF59", "url": "https://www.uniprot.org/uniprotkb/Q8VF59" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 312, "chemical_mass": 34954.0, "gene_names": "Or5an9;MOR214-5;Olfr1431;Or5an9", "protein_name": "Olfactory receptor", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception", "id": "GO:0050907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050907", "evidence": [ { "database": "UniProtKB", "id": "Q8VF59", "url": 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"https://www.uniprot.org/uniprotkb/Q8VF59" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VF59", "url": "https://www.uniprot.org/uniprotkb/Q8VF59" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q8VF59", "url": "https://www.uniprot.org/uniprotkb/Q8VF59" } ], "pmid": "" }, { "name": "trace-amine receptor activity", "id": "GO:0001594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001594", "evidence": [ { "database": "UniProtKB", "id": "Q8VF59", "url": "https://www.uniprot.org/uniprotkb/Q8VF59" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q8VF79-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": 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"evidence": [ { "database": "UniProtKB", "id": "Q8VF79", "url": "https://www.uniprot.org/uniprotkb/Q8VF79" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VF79", "url": "https://www.uniprot.org/uniprotkb/Q8VF79" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8VF79", "url": "https://www.uniprot.org/uniprotkb/Q8VF79" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8VF79", "url": "https://www.uniprot.org/uniprotkb/Q8VF79" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": 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"GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TRH5", "url": "https://www.uniprot.org/uniprotkb/Q7TRH5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q7TRI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 35629.0, "gene_names": "Or6c75;Olfr790", "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": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "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": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TRI0", "url": "https://www.uniprot.org/uniprotkb/Q7TRI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q810G3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 189, "chemical_mass": 21605.0, "gene_names": "Ifna14;If1ai2;Ifna14", "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. 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response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "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": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": 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"name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "Q810G3", "url": "https://www.uniprot.org/uniprotkb/Q810G3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q8K3N5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3N5", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q8K3N5" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "Q8K3N5", "url": "https://www.uniprot.org/uniprotkb/Q8K3N5" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "Q8K3N5", "url": "https://www.uniprot.org/uniprotkb/Q8K3N5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.21" }, { "uniprot_canonical_ac": "Q8R256-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R256", "url": "https://www.uniprot.org/uniprotkb/Q8R256" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 36285.0, "gene_names": "Vmn1r89;V1RE8;V1rj2;Vmn1r89", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R256", "url": "https://www.uniprot.org/uniprotkb/Q8R256" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q8R256", "url": "https://www.uniprot.org/uniprotkb/Q8R256" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q8R256", "url": "https://www.uniprot.org/uniprotkb/Q8R256" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": 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"sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116566109", "evidence": [ { "id": "rs3388642289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388642289" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1025", "end_pos": "1025", "site_lbl": "Gln1025", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116566046", "evidence": [ { "id": "rs30753206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30753206" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1026", "end_pos": "1026", "site_lbl": "Met1026", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116566041", "evidence": [ { "id": "rs3388642204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388642204" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1061", "end_pos": "1061", "site_lbl": "Pro1061", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116565066", "evidence": [ { "id": "rs3388642282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388642282" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Leu1107", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116562477", "evidence": [ { "id": "rs3393578076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393578076" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1119", "end_pos": "1119", "site_lbl": "Glu1119", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116562441", "evidence": [ { "id": "rs3393408457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393408457" } ] }, { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116562440", "evidence": [ { "id": "rs222326802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222326802" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1120", "end_pos": "1120", "site_lbl": "Ala1120", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116562439", "evidence": [ { "id": "rs3393529603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393529603" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Trp1155", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116552464", "evidence": [ { "id": "rs3388648263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648263" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1167", "end_pos": "1167", "site_lbl": "Thr1167", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116552428", "evidence": [ { "id": "rs256159353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256159353" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1189", "end_pos": "1189", "site_lbl": "Ala1189", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116552363", "evidence": [ { "id": "rs47517463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47517463" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116552363", "evidence": [ { "id": "rs47517463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47517463" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1205", "end_pos": "1205", "site_lbl": "Gln1205", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551975", "evidence": [ { "id": "rs3388648791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648791" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1208", "end_pos": "1208", "site_lbl": "Met1208", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551964", "evidence": [ { "id": "rs3388653317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653317" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Gly1223", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551920", "evidence": [ { "id": "rs3388664137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664137" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1253", "end_pos": "1253", "site_lbl": "Arg1253", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116548600", "evidence": [ { "id": "rs3388659810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659810" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Asp125", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116585753", "evidence": [ { "id": "rs864258357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864258357" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1266", "end_pos": "1266", "site_lbl": "Ser1266", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116548561", "evidence": [ { "id": "rs3388659802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659802" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Cys126", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116585750", "evidence": [ { "id": "rs3388648762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648762" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1290", "end_pos": "1290", "site_lbl": "Cys1290", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546979", "evidence": [ { "id": "rs47217924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47217924" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "His1309", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546923", "evidence": [ { "id": "rs262907881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262907881" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546924", "evidence": [ { "id": "rs224848823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224848823" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1314", "end_pos": "1314", "site_lbl": "Lys1314", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546908", "evidence": [ { "id": "rs236980286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236980286" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1316", "end_pos": "1316", "site_lbl": "His1316", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546901", "evidence": [ { "id": "rs213571041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213571041" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Thr1473", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116540092", "evidence": [ { "id": "rs243555425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243555425" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Val197", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116584729", "evidence": [ { "id": "rs3388661822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661822" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116584730", "evidence": [ { "id": "rs3388664163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664163" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ile210", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116584691", "evidence": [ { "id": "rs221351472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221351472" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Thr223", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116583521", "evidence": [ { "id": "rs3541772818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541772818" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Asn282", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116582176", "evidence": [ { "id": "rs3541807870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541807870" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Arg285", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116582024", "evidence": [ { "id": "rs5526242010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526242010" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Gln32", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116587458", "evidence": [ { "id": "rs3388654418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654418" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ala347", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580922", "evidence": [ { "id": "rs237952059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237952059" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Thr352", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580906", "evidence": [ { "id": "rs224070208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224070208" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Thr356", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580894", "evidence": [ { "id": "rs3388653383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653383" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580895", "evidence": [ { "id": "rs3388654420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654420" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ile358", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580889", "evidence": [ { "id": "rs3388653361", "database": "dbSNP", "url": 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"name": "90S preribosome", "id": "GO:0030686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030686", "evidence": [ { "database": "UniProtKB", "id": "G3X9B1", "url": "https://www.uniprot.org/uniprotkb/G3X9B1" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "G3X9B1", "url": "https://www.uniprot.org/uniprotkb/G3X9B1" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "G3X9B1", "url": "https://www.uniprot.org/uniprotkb/G3X9B1" } ], "pmid": "" }, { "name": "positive regulation of rRNA processing", "id": "GO:2000234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000234", "evidence": [ { "database": "UniProtKB", "id": "G3X9B1", "url": "https://www.uniprot.org/uniprotkb/G3X9B1" } ], "pmid": "" }, { "name": "protein 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