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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080379", "name": "nephrotic syndrome type 2", "description": "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.", "url": "https://disease-ontology.org/term/DOID:0080379", "evidence": [ { "id": "0080379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080379" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. 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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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0034638", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "lipid oxidation", "id": "GO:0034440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034440", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "plasma lipoprotein particle oxidation", "id": "GO:0034441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034441", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": 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"id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "1-alkyl-2-acetylglycerophosphocholine 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"record_id": "P59913-1" }, { "uniprot_canonical_ac": "P86547-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P86547", "url": "https://www.uniprot.org/uniprotkb/P86547" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 95, "chemical_mass": 10459.0, "gene_names": "Bglap2;BGP2;Bglap1;Bglap2;Bgp;Og2;mOC-B", "protein_name": "Osteocalcin-2", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550670" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1057", "end_pos": "1057", "site_lbl": "Thr1057", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262427", "evidence": [ { "id": "rs260446852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260446852" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Phe1059", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262421", "evidence": [ { "id": "rs241628525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241628525" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ile1063", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262408", "evidence": [ { "id": "rs216157599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216157599" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Cys1066", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262399", "evidence": [ { "id": "rs3388554083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554083" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Asn1074", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262375", "evidence": [ { "id": "rs3388546754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546754" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1111", "end_pos": "1111", "site_lbl": "Thr1111", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60259055", "evidence": [ { "id": "rs3388554078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554078" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "His1156", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258920", "evidence": [ { "id": "rs28003033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28003033" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1192", "end_pos": "1192", "site_lbl": "Ser1192", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258103", "evidence": [ { "id": "rs3388550381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550381" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Tyr1196", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258091", "evidence": [ { "id": "rs3388556451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556451" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1216", "end_pos": "1216", "site_lbl": "Arg1216", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258030", "evidence": [ { "id": "rs28003040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28003040" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Thr1220", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258018", "evidence": [ { "id": "rs220037088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220037088" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1224", "end_pos": "1224", "site_lbl": "Ser1224", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258006", "evidence": [ { "id": "rs3388557518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557518" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1227", "end_pos": "1227", "site_lbl": "Gln1227", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60257996", "evidence": [ { "id": "rs3388550467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550467" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Ala1229", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60257992", "evidence": [ { "id": "rs28003041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28003041" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1254", "end_pos": "1254", "site_lbl": "Ile1254", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60255783", "evidence": [ { "id": "rs3411652401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411652401" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1284", "end_pos": "1284", "site_lbl": "Ser1284", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60254716", "evidence": [ { "id": "rs3388554961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554961" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "Ala1292", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60254692", "evidence": [ { "id": "rs3540347378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540347378" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1313", "end_pos": "1313", "site_lbl": "Trp1313", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60254629", "evidence": [ { "id": "rs3388553597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553597" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1322", "end_pos": "1322", "site_lbl": "Asn1322", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60253125", "evidence": [ { "id": "rs3391648614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391648614" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1351", "end_pos": "1351", "site_lbl": "His1351", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60253039", "evidence": [ { "id": "rs3540366581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540366581" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1369", "end_pos": "1369", "site_lbl": "Glu1369", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60252985", "evidence": [ { "id": "rs3388556438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556438" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Asp1370", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60252981", "evidence": [ { "id": "rs246937475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246937475" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1380", "end_pos": "1380", "site_lbl": "Ala1380", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60252952", "evidence": [ { "id": "rs3388556112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556112" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Ala1384", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250775", "evidence": [ { "id": "rs28024394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024394" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Ser1396", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250635", "evidence": [ { "id": "rs3391654509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391654509" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250634", "evidence": [ { "id": "rs3391706537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391706537" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1397", "end_pos": "1397", "site_lbl": "Ile1397", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250631", "evidence": [ { "id": "rs3391632914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632914" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1399", "end_pos": "1399", "site_lbl": "Pro1399", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250626", "evidence": [ { "id": "rs3391632922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632922" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1402", "end_pos": "1402", "site_lbl": "Val1402", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250616", "evidence": [ { "id": "rs3391670769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391670769" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Leu1404", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250611", "evidence": [ { "id": "rs3391518450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391518450" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Arg145", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60365135", "evidence": [ { "id": "rs1134500249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134500249" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Gly1477", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250391", "evidence": [ { "id": "rs3388553750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553750" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Cys162", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60365084", "evidence": [ { "id": "rs3391575999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391575999" }, { "id": "rs3391644833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391644833" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "190", "end_pos": "190", "site_lbl": "His190", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360817", "evidence": [ { "id": "rs217157164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217157164" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Leu204", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360776", "evidence": [ { "id": "rs3391671827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391671827" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360758", "evidence": [ { "id": "rs3388554126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554126" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360758", "evidence": [ { "id": "rs3388554126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554126" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Glu214", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360747", "evidence": [ { "id": "rs247904822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247904822" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Gly220", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360728", "evidence": [ { "id": "rs3388553620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553620" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Phe221", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360724", "evidence": [ { "id": "rs3388554185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554185" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353280", "evidence": [ { "id": "rs3391644805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391644805" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Met228", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353276", "evidence": [ { "id": "rs3391601151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391601151" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Arg243", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353233", "evidence": [ { "id": "rs33322946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33322946" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353232", "evidence": [ { "id": "rs264160632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264160632" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353206", "evidence": [ { "id": "rs249671625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249671625" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Asp280", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353121", "evidence": [ { "id": "rs108798627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108798627" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Lys291", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60346023", "evidence": [ { "id": "rs3388555318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555318" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Trp306", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345979", "evidence": [ { "id": "rs3388546734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546734" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Gln307", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345976", "evidence": [ { "id": "rs3388554180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554180" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ile323", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345387", "evidence": [ { "id": "rs3388550373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550373" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Gly334", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345354", "evidence": [ { "id": "rs3388555361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555361" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Val339", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345339", "evidence": [ { "id": "rs28057094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057094" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "376", "end_pos": "376", "site_lbl": "His376", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60334644", "evidence": [ { "id": "rs28057129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057129" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Arg398", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60334578", "evidence": [ { "id": "rs28057130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057130" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Thr439", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60332525", "evidence": [ { "id": "rs3388555328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555328" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Arg476", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60332414", "evidence": [ { "id": "rs3388557473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557473" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60332385", "evidence": [ { "id": "rs3388550744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550744" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Trp490", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327992", "evidence": [ { "id": "rs3388553588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553588" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Lys491", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327989", "evidence": [ { "id": "rs3388557485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557485" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Cys503", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327954", "evidence": [ { "id": "rs3388554052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554052" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Gln514", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327921", "evidence": [ { "id": "rs232622377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232622377" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Gly525", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60325696", "evidence": [ { "id": "rs28057146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057146" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ala550", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60325620", "evidence": [ { "id": "rs250274766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250274766" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Phe562", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309897", "evidence": [ { "id": "rs3388550745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550745" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Gly588", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309820", "evidence": [ { "id": "rs3388550405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550405" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Glu589", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309815", "evidence": [ { "id": "rs3388553701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553701" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Thr594", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309802", "evidence": [ { "id": "rs244852354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244852354" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Trp606", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309764", "evidence": [ { "id": "rs3388554051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554051" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Arg614", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288790", "evidence": [ { "id": "rs5525488558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525488558" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Gly627", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288751_60288752insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388554208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554208" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Asp636", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288724", "evidence": [ { "id": "rs3388555315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555315" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Ala639", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288716", "evidence": [ { "id": "rs5525506279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525506279" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Trp668", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288629", "evidence": [ { "id": "rs3391670776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391670776" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Lys685", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60285559", "evidence": [ { "id": "rs3388550442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550442" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ala697", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60285523", "evidence": [ { "id": "rs3388556119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556119" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ala6", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60383458", "evidence": [ { "id": "rs3388555353", "database": "dbSNP", "url": 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{ "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "plasma membrane phospholipid scrambling", "id": "GO:0017121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017121", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "negative regulation of phagocytosis", "id": "GO:0050765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050765", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902231", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "response to interferon-alpha", "id": "GO:0035455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035455", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "response to interferon-beta", "id": "GO:0035456", "url": 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"database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "CD4 receptor binding", "id": "GO:0042609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042609", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ00", "url": "https://www.uniprot.org/uniprotkb/Q9JJ00" } ], "pmid": "" }, { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": 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interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q9WUI1", "url": "https://www.uniprot.org/uniprotkb/Q9WUI1" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "Q9WUI1", "url": "https://www.uniprot.org/uniprotkb/Q9WUI1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9WUI1", "url": "https://www.uniprot.org/uniprotkb/Q9WUI1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WUI1", "url": "https://www.uniprot.org/uniprotkb/Q9WUI1" } ], "pmid": "" }, { "name": "MAP kinase 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"https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "cellular response to leucine starvation", "id": "GO:1990253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990253", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "cellular response to L-leucine", "id": "GO:0071233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071233", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" }, { "name": "Gtr1-Gtr2 GTPase complex", "id": "GO:1990131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990131", "evidence": [ { "database": "UniProtKB", "id": "Q7TT45", "url": "https://www.uniprot.org/uniprotkb/Q7TT45" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TT45-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 43, "start_aa": "Ser", "end_pos": 43, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser43", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q7TT45", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT45" } ] } ] }, { "uniprot_canonical_ac": "Q7TT45-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 50, "start_aa": "Ser", "end_pos": 50, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser50", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q7TT45", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT45" } ] } ] } ], "record_id": "Q7TT45-1" }, { "uniprot_canonical_ac": "Q8K386-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 212, "chemical_mass": 24318.0, "gene_names": "Rab15", "protein_name": "Ras-related protein Rab-15", "disease": [], "biological_process": [ { "name": "positive regulation of regulated secretory pathway", "id": "GO:1903307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903307", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K386", "url": "https://www.uniprot.org/uniprotkb/Q8K386" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K386-1" }, { "uniprot_canonical_ac": "O70338-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 285, "chemical_mass": 31805.0, "gene_names": "Rnaseh1;Rnh1", "protein_name": "Ribonuclease H1", "disease": [ { "disease_id": "DOID:0111515", "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.", "url": "https://disease-ontology.org/term/DOID:0111515", "evidence": [ { "id": "0111515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111515" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" }, { "name": "RNA-DNA hybrid ribonuclease activity", "id": "GO:0004523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004523", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial DNA replication", "id": "GO:0006264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006264", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" }, { "name": "DNA replication, removal of RNA primer", "id": "GO:0043137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043137", "evidence": [ { "database": "UniProtKB", "id": "O70338", "url": "https://www.uniprot.org/uniprotkb/O70338" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O70338-1" }, { "uniprot_canonical_ac": "B1ARI9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1ARI9", "url": "https://www.uniprot.org/uniprotkb/B1ARI9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 187, "chemical_mass": 20763.0, "gene_names": "Prr29;2310007L24Rik;Prr29", "protein_name": "Proline-rich protein 29", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1ARI9-1" }, { "uniprot_canonical_ac": "Q91YR7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YR7", "url": "https://www.uniprot.org/uniprotkb/Q91YR7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 941, "chemical_mass": 106722.0, "gene_names": "Prpf6;1190003A07Rik;2610031L17Rik;ANT-1;Prpf6;U5-102K", "protein_name": "Pre-mRNA-processing factor 6", "disease": [ { "disease_id": "DOID:0110411", "name": "retinitis pigmentosa 60", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33.", "url": "https://disease-ontology.org/term/DOID:0110411", "evidence": [ { "id": "0110411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110411" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q91YR7", "url": "https://www.uniprot.org/uniprotkb/Q91YR7" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q91YR7", "url": "https://www.uniprot.org/uniprotkb/Q91YR7" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q91YR7", "url": "https://www.uniprot.org/uniprotkb/Q91YR7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91YR7", "url": "https://www.uniprot.org/uniprotkb/Q91YR7" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q91YR7", "url": "https://www.uniprot.org/uniprotkb/Q91YR7" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E7", "url": "https://www.uniprot.org/uniprotkb/Q8K0E7" } ], "pmid": "" } ], "biological_process": [ { "name": "plasma membrane phospholipid scrambling", "id": "GO:0017121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017121", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E7", "url": "https://www.uniprot.org/uniprotkb/Q8K0E7" } ], "pmid": "" }, { "name": "phosphatidylserine metabolic process", "id": "GO:0006658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006658", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E7", "url": "https://www.uniprot.org/uniprotkb/Q8K0E7" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E7", "url": "https://www.uniprot.org/uniprotkb/Q8K0E7" } ], "pmid": "" }, { "name": "acetyltransferase activator activity", "id": "GO:0010698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010698", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E7", "url": "https://www.uniprot.org/uniprotkb/Q8K0E7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K0E7-1" }, { "uniprot_canonical_ac": "Q9WTN6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTN6", "url": "https://www.uniprot.org/uniprotkb/Q9WTN6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 564, "chemical_mass": 63321.0, "gene_names": "Slc22a21;Octn3;Slc22a21;Slc22a9", "protein_name": "Solute carrier family 22 member 21", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q14C51-1" }, { "uniprot_canonical_ac": "D3Z423-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 297, "chemical_mass": 32990.0, "gene_names": "Rnf212b;Gm10332;Gm30805;Rnf212b", "protein_name": "E3 ubiquitin-protein ligase RNF212B", "disease": [ { "disease_id": "DOID:0111910", "name": "spermatogenic failure", "description": "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid 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ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" }, { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" }, { "name": "chiasma assembly", "id": "GO:0051026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051026", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" } ], "cellular_component": [ { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z423-1", "start_pos": "24", "end_pos": "24", "site_lbl": "His24", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes autoubiquitinylation. Spermatocytes recapitulated the phenotype observed in Rnf212b deficient mice, including modest synapsis defects, a reduction in the localization of pro-CO factors (MSH4, TEX11, SHOC1) and absence of late CO-intermediates.", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" }, { "database": "PubMed", "id": "38865271", "url": "https://glygen.org/publication/PubMed/38865271" } ] } ] } ], "record_id": "D3Z423-1" }, { "uniprot_canonical_ac": "Q925F3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 292, "chemical_mass": 32845.0, "gene_names": "Rnf144a;Kiaa0161;Rnf144a;Rnf144;UIP4;Ubce7ip4;Uip4", "protein_name": "E3 ubiquitin-protein ligase RNF144A", "disease": [], "biological_process": [ { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q925F3-1" }, { "uniprot_canonical_ac": "P35290-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 203, "chemical_mass": 23144.0, "gene_names": "Rab24;6530406O07Rik;Rab24", "protein_name": "Ras-related protein Rab-24", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", 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"id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P21841", "url": "https://www.uniprot.org/uniprotkb/P21841" } ], "pmid": "" } ], "biological_process": [ { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P21841", "url": "https://www.uniprot.org/uniprotkb/P21841" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P21841-1" }, { "uniprot_canonical_ac": "P28650-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28650", "url": "https://www.uniprot.org/uniprotkb/P28650" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 457, "chemical_mass": 50254.0, "gene_names": "Adss1;ADSS1;ADSSL1;Adss1;Adssl1;Adss", "protein_name": 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}, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "protein kinase regulator 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"id": "GO:0043304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043304", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "regulation of cell-substrate adhesion", "id": "GO:0010810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010810", "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "pmid": "" }, { "name": "cortical 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"sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lipid-linked oligosaccharide pathway related.", "chr_id": "2", "chr_pos": "157163729", "evidence": [ { "id": "rs3388608361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608361" } ] } ] }, { "uniprot_canonical_ac": "Q9DBG6-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Gly610", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lipid-linked oligosaccharide pathway related.", "chr_id": "2", "chr_pos": "157163738", "evidence": [ { "id": "rs3388601553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388601553" } ] } ] }, { "uniprot_canonical_ac": "Q9DBG6-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Val626", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lipid-linked oligosaccharide pathway related.", "chr_id": "2", "chr_pos": "157163786", "evidence": [ { "id": "rs3388604201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388604201" } ] } ] }, { "uniprot_canonical_ac": "Q9DBG6-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ala8", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lipid-linked oligosaccharide pathway related.", "chr_id": "2", "chr_pos": "157125513", "evidence": [ { "id": "rs583226918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583226918" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lipid-linked oligosaccharide pathway related.", "chr_id": "2", "chr_pos": "157125512", "evidence": [ { "id": "rs579721559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579721559" } ] } ] } ], "record_id": "Q9DBG6-1" }, { "uniprot_canonical_ac": "Q9D241-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 226, "chemical_mass": 24704.0, "gene_names": "Rnf186", "protein_name": "E3 ubiquitin-protein ligase RNF186", "disease": [], "biological_process": [ { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "protein K29-linked ubiquitination", "id": "GO:0035519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035519", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "apoptotic process in response to mitochondrial fragmentation", "id": "GO:0140208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140208", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q9D241", "url": "https://www.uniprot.org/uniprotkb/Q9D241" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D241-1" }, { "uniprot_canonical_ac": "P70700-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70700", "url": "https://www.uniprot.org/uniprotkb/P70700" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1135, "chemical_mass": 128213.0, "gene_names": "Polr1b;128kDa;D630020H17Rik;Polr1b;RPA116;RPA135;RPA2;Rpa2;Rpo1-2", "protein_name": "DNA-directed RNA polymerase I subunit RPA2", "disease": [ { "disease_id": "DOID:0080792", "name": "Treacher Collins syndrome 4", "description": "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.", "url": "https://disease-ontology.org/term/DOID:0080792", "evidence": [ { "id": "0080792", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080792" } ], "weight": 0.0 }, { "disease_id": "DOID:2908", "name": "Treacher Collins syndrome", "description": "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.", "url": "https://disease-ontology.org/term/DOID:2908", "evidence": [ { "id": "2908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2908" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neural crest formation", "id": "GO:0014029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014029", "evidence": [ { "database": 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"" }, { "name": "translational elongation", "id": "GO:0006414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006414", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" }, { "name": "protein-RNA covalent cross-linking repair", "id": "GO:0160127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160127", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": 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Loss of ubiquitination activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] } ] }, { "uniprot_canonical_ac": "Q9QZR0-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Cys137", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No E2 binding. Loss of ubiquitination activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] } ] }, { "uniprot_canonical_ac": "Q9QZR0-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Cys152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No E2 binding. Loss of ubiquitination activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] } ] }, { "uniprot_canonical_ac": "Q9QZR0-1", "start_pos": "157", "end_pos": "157", "site_lbl": "His157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "C", "comment": "No E2 binding. Loss of ubiquitination activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZR0", "url": "https://www.uniprot.org/uniprotkb/Q9QZR0" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] } ] }, { "uniprot_canonical_ac": "Q9QZR0-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Cys158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No E2 binding. 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"" }, { "name": "positive regulation of ERAD pathway", "id": "GO:1904294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904294", "evidence": [ { "database": "UniProtKB", "id": "Q9DCN7", "url": "https://www.uniprot.org/uniprotkb/Q9DCN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DCN7-1" }, { "uniprot_canonical_ac": "Q9EQI8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EQI8", "url": "https://www.uniprot.org/uniprotkb/Q9EQI8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 283, "chemical_mass": 32132.0, "gene_names": "Mrpl46;3110052F15Rik;C15orf4;LIECG2;Mrpl46;P2ECSL", "protein_name": "Large ribosomal subunit protein mL46", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": 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"double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "histone H3K4 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"name": "histone H3K36 dimethyltransferase activity", "id": "GO:0140954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140954", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80UJ9-1" }, { "uniprot_canonical_ac": "Q9CZC8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 46326.0, "gene_names": "Scrn1;2810019K23Rik;6330535A03Rik;Kiaa0193;SES1;Scrn1;mKIAA0193", "protein_name": "Secernin-1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "dipeptidase activity", "id": "GO:0016805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016805", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "cysteine-type exopeptidase activity", "id": "GO:0070004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070004", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CZC8-1" }, { "uniprot_canonical_ac": "Q78KK3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q78KK3", "url": "https://www.uniprot.org/uniprotkb/Q78KK3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 406, "chemical_mass": 43013.0, "gene_names": "Slc22a18;Slc67a1;BWR1A;BWSCR1A;HET;ITM;Impt1;Itm;Orctl2;Slc22a18;Slc22a1l;Slc67a1;TSSC5;Tssc5;p45-BWR1A", "protein_name": "Solute carrier family 22 member 18", "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", 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"id": "Q78KK3", "url": "https://www.uniprot.org/uniprotkb/Q78KK3" } ], "pmid": "" } ], "molecular_function": [ { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q78KK3", "url": "https://www.uniprot.org/uniprotkb/Q78KK3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q78KK3", "url": "https://www.uniprot.org/uniprotkb/Q78KK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q78KK3-1" }, { "uniprot_canonical_ac": "Q68FF9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q68FF9", "url": "https://www.uniprot.org/uniprotkb/Q68FF9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 255, 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"name": "positive regulation of lipid catabolic process", "id": "GO:0050996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050996", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI2", "url": "https://www.uniprot.org/uniprotkb/Q5FWI2" } ], "pmid": "" }, { "name": "renal water absorption", "id": "GO:0070295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070295", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI2", "url": "https://www.uniprot.org/uniprotkb/Q5FWI2" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI2", "url": "https://www.uniprot.org/uniprotkb/Q5FWI2" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI2", "url": 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"evidence": [ { "id": "Q5FWI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5FWI2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI2-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Asn290", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "Q5FWI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5FWI2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI2-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], 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Strong decreases of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Gln25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "D", "comment": "No effect on protein abundance. Almost complete loss of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] }, { "sequence_org": "Q", "sequence_mut": "V", "comment": "No effect on protein abundance. Strong decrease of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Asp287", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Met297", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "C", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] }, { "sequence_org": "M", "sequence_mut": "S", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Ile456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Gly464", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "N", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Leu477", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Gly495", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Asp502", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Decreases protein abundance. Strong decreases of cell surface localization. Strong decreases on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "50", "end_pos": "50", "site_lbl": "His50", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "No effect on protein abundance. No effect on cell surface localization. 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No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Gly78", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "No effect on protein abundance. No effect on cell surface expression. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Lys90", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] } ], "record_id": "O88576-1" }, { "uniprot_canonical_ac": "P0C5K1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 362, "chemical_mass": 39699.0, "gene_names": "Sbk2;Gm1079;Sbk2;Sgk069", "protein_name": "Serine/threonine-protein kinase SBK2", "disease": [], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "pmid": "" }, { "name": "MAP kinase kinase activity", "id": "GO:0004708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004708", "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "pmid": "" } ], "biological_process": [ { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P0C5K1-1" }, { "uniprot_canonical_ac": "P20826-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P20826", "url": "https://www.uniprot.org/uniprotkb/P20826" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 30645.0, "gene_names": "Kitlg;Kitl;Clo;Con;Gb;Kitlg;Kitl;Mgf;SCF;SF;SLF;Slf;Sl;blz;contrasted", "protein_name": "Kit ligand", "disease": [ { "disease_id": "DOID:0110590", "name": "autosomal dominant nonsyndromic deafness 69", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0110590", "evidence": [ { "id": "0110590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110590" } ], "weight": 0.0 }, { "disease_id": "DOID:0111373", "name": "familial progressive hyperpigmentation with or without hypopigmentation", "description": "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32.", "url": "https://disease-ontology.org/term/DOID:0111373", "evidence": [ { "id": "0111373", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111373" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:9258", "name": "Waardenburg syndrome", "description": "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.", "url": "https://disease-ontology.org/term/DOID:9258", "evidence": [ { "id": "9258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9258" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "stem cell factor receptor binding", "id": "GO:0005173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005173", "evidence": [ { "database": "UniProtKB", "id": "P20826", "url": "https://www.uniprot.org/uniprotkb/P20826" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P20826", "url": "https://www.uniprot.org/uniprotkb/P20826" } ], "pmid": "" }, { "name": "growth factor 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035990", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "deltoid tuberosity development", "id": "GO:0035993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035993", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "Sertoli cell development", "id": "GO:0060009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060009", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "Sertoli cell differentiation", "id": "GO:0060008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060008", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "tendon development", "id": "GO:0035989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035989", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "heart valve morphogenesis", "id": "GO:0003179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003179", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "positive regulation of gastrulation", "id": "GO:2000543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000543", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "sclerotome development", "id": "GO:0061056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061056", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": "https://www.uniprot.org/uniprotkb/Q64124" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q64124", "url": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": 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high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "thrombopoietin receptor activity", "id": "GO:0038164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038164", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": 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{ "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "regulation of chemokine production", "id": "GO:0032642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032642", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "neutrophil homeostasis", "id": "GO:0001780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001780", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "definitive hemopoiesis", "id": "GO:0060216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060216", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050671", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "regulation of hemopoiesis", "id": "GO:1903706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903706", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "positive regulation of platelet formation", "id": "GO:1905221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905221", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "eosinophil homeostasis", "id": "GO:1990959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990959", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "basophil homeostasis", "id": "GO:1990960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990960", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q08351", "url": "https://www.uniprot.org/uniprotkb/Q08351" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q08351-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": 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"https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "dopamine biosynthetic process", "id": "GO:0042416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042416", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of integrin biosynthetic process", "id": "GO:0045726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045726", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "negative regulation of macrophage cytokine production", "id": "GO:0010936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010936", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of heart contraction", "id": "GO:0045823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045823", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "cardioblast differentiation", "id": "GO:0010002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010002", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "membranous septum morphogenesis", "id": "GO:0003149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003149", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P27090", "url": "https://www.uniprot.org/uniprotkb/P27090" } ], "pmid": "" }, { "name": "glial cell 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"positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "negative regulation of dendrite morphogenesis", "id": "GO:0050774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050774", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "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": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61663", "url": "https://www.uniprot.org/uniprotkb/Q61663" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61663-1" }, { "uniprot_canonical_ac": "P19221-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 618, "chemical_mass": 70269.0, "gene_names": "F2;Cf-2;Cf2;F2;FII", "protein_name": "Prothrombin", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080652", "name": "calcium oxalate nephrolithiasis", "description": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0080652", "evidence": [ { "id": "0080652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080652" } ], "weight": 0.0 }, { "disease_id": "DOID:0080941", "name": "acquired angioedema", "description": "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.", "url": "https://disease-ontology.org/term/DOID:0080941", "evidence": [ { "id": "0080941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080941" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "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:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12259", "name": "hemophilia B", "description": "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.", "url": "https://disease-ontology.org/term/DOID:12259", "evidence": [ { "id": "12259", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12259" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2235", "name": "prothrombin deficiency", "description": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8337", "name": "appendicitis", "description": "An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:8337", "evidence": [ { "id": "8337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8337" } ], "weight": 0.0 }, { "disease_id": "DOID:8506", "name": "bullous pemphigoid", "description": "A pemphigoid that is characterized by large blisters.", "url": "https://disease-ontology.org/term/DOID:8506", "evidence": [ { "id": "8506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8506" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neutrophil-mediated killing of gram-negative bacterium", "id": "GO:0070945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070945", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "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": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "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": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "cytolysis by host of symbiont cells", "id": "GO:0051838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051838", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "blood coagulation, common pathway", "id": "GO:0072377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072377", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "thrombin-activated receptor signaling pathway", "id": "GO:0070493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070493", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:1900738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900738", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" }, { "name": "thrombospondin receptor activity", "id": "GO:0070053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070053", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": "https://www.uniprot.org/uniprotkb/P19221" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P19221", "url": 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"https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "regulation of cargo loading into COPII-coated vesicle", "id": "GO:1901301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901301", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "allantois development", "id": "GO:1905069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905069", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "somite rostral/caudal axis specification", "id": "GO:0032525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032525", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "regulation of SREBP signaling pathway", "id": "GO:2000638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000638", "evidence": [ { "database": "UniProtKB", "id": "Q9R0Q3", "url": "https://www.uniprot.org/uniprotkb/Q9R0Q3" } ], "pmid": "" }, { "name": "maintenance of protein localization in organelle", "id": "GO:0072595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072595", "evidence": [ { 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It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.", "url": "https://disease-ontology.org/term/DOID:0050152", "evidence": [ { "id": "0050152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050152" } ], "weight": 0.0 }, { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050426", "name": "Stevens-Johnson syndrome", "description": "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.", "url": "https://disease-ontology.org/term/DOID:0050426", "evidence": [ { "id": "0050426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ], "weight": 0.0 }, { "disease_id": "DOID:0050452", "name": "mevalonic aciduria", "description": "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.", "url": "https://disease-ontology.org/term/DOID:0050452", "evidence": [ { "id": "0050452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050452" } ], "weight": 0.0 }, { "disease_id": "DOID:0050475", "name": "Weill-Marchesani syndrome", "description": "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.", "url": "https://disease-ontology.org/term/DOID:0050475", "evidence": [ { "id": "0050475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050475" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050642", "name": "hypochromic microcytic anemia", "description": "A microcytic anemia characterized by paler than normal blood cells.", "url": "https://disease-ontology.org/term/DOID:0050642", "evidence": [ { "id": "0050642", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050642" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "weight": 0.0 }, { "disease_id": "DOID:0050697", "name": "chorioamnionitis", "description": "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:0050697", "evidence": [ { "id": "0050697", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050697" } ], "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:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050881", "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "description": "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.", "url": "https://disease-ontology.org/term/DOID:0050881", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060319", "name": "cardiac arrest", "description": "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.", "url": "https://disease-ontology.org/term/DOID:0060319", "evidence": [ { "id": "0060319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060319" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0061092", "name": "immunodeficiency 127", "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0061092", "evidence": [ { "id": "0061092", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061092" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10241", "name": "thalassemia", "description": "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.", "url": "https://disease-ontology.org/term/DOID:10241", "evidence": [ { "id": "10241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10241" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11656", "name": "cicatricial pemphigoid", "description": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.", "url": "https://disease-ontology.org/term/DOID:11656", "evidence": [ { "id": "11656", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11656" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:11823", "name": "hepatorenal syndrome", "description": "An acute kidney failure that is characterized by severe renal vasoconstriction.", "url": "https://disease-ontology.org/term/DOID:11823", "evidence": [ { "id": "11823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11823" } ], "weight": 0.0 }, { "disease_id": "DOID:11963", "name": "esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:11963", "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected 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:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:12662", "name": "paracoccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.", "url": "https://disease-ontology.org/term/DOID:12662", "evidence": [ { "id": "12662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12662" } ], "weight": 0.0 }, { "disease_id": "DOID:1270", "name": "hereditary hemorrhagic telangiectasia", "description": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.", "url": "https://disease-ontology.org/term/DOID:1270", "evidence": [ { "id": "1270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1270" } ], "weight": 0.0 }, { "disease_id": "DOID:12732", "name": "intermediate uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12732", "evidence": [ { "id": "12732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12732" } ], "weight": 0.0 }, { "disease_id": "DOID:12783", "name": "migraine without aura", "description": "A migraine that is characterized by migraine headaches that are not accompanied by an aura.", "url": "https://disease-ontology.org/term/DOID:12783", "evidence": [ { "id": "12783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12783" } ], "weight": 0.0 }, { "disease_id": "DOID:12800", "name": "mucopolysaccharidosis VI", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.", "url": "https://disease-ontology.org/term/DOID:12800", "evidence": [ { "id": "12800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12800" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12895", "name": "keratoconjunctivitis sicca", "description": "", "url": "https://disease-ontology.org/term/DOID:12895", "evidence": [ { "id": "12895", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12895" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13088", "name": "periventricular leukomalacia", "description": "", "url": "https://disease-ontology.org/term/DOID:13088", "evidence": [ { "id": "13088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13088" } ], "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:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "weight": 0.0 }, { "disease_id": "DOID:13276", "name": "Mycoplasma pneumoniae pneumonia", "description": "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.", "url": "https://disease-ontology.org/term/DOID:13276", "evidence": [ { "id": "13276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13276" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13452", "name": "scleritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13452", "evidence": [ { "id": "13452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13452" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14453", "name": "farmer's lung", "description": "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.", "url": "https://disease-ontology.org/term/DOID:14453", "evidence": [ { "id": "14453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14453" } ], "weight": 0.0 }, { "disease_id": "DOID:14550", "name": "root resorption", "description": "", "url": "https://disease-ontology.org/term/DOID:14550", "evidence": [ { "id": "14550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14550" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1926", "name": "Gaucher's disease", "description": "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.", "url": "https://disease-ontology.org/term/DOID:1926", "evidence": [ { "id": "1926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1926" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2280", "name": "hidradenitis suppurativa", "description": "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.", "url": "https://disease-ontology.org/term/DOID:2280", "evidence": [ { "id": "2280", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2280" } ], "weight": 0.0 }, { "disease_id": "DOID:2352", "name": "hemochromatosis", "description": "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.", "url": "https://disease-ontology.org/term/DOID:2352", "evidence": [ { "id": "2352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2352" } ], "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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2755", "name": "Mycobacterium avium complex disease", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.", "url": "https://disease-ontology.org/term/DOID:2755", "evidence": [ { "id": "2755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2755" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3492", "name": "mixed connective tissue disease", "description": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.", "url": "https://disease-ontology.org/term/DOID:3492", "evidence": [ { "id": "3492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:37", "name": "skin disease", "description": "An integumentary system disease that is located_in skin.", "url": "https://disease-ontology.org/term/DOID:37", "evidence": [ { "id": "37", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:37" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:4306", "name": "radiculopathy", "description": "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.", "url": "https://disease-ontology.org/term/DOID:4306", "evidence": [ { "id": "4306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4306" } ], "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:4398", "name": "pustulosis of palm and sole", "description": "", "url": "https://disease-ontology.org/term/DOID:4398", "evidence": [ { "id": "4398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4398" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4692", "name": "endophthalmitis", "description": "A globe disease that is characterized by inflammation of the inside of the eye.", "url": "https://disease-ontology.org/term/DOID:4692", "evidence": [ { "id": "4692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4692" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5463", "name": "cochlear disease", "description": "", "url": "https://disease-ontology.org/term/DOID:5463", "evidence": [ { "id": "5463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5463" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8463", "name": "corneal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:8463", "evidence": [ { "id": "8463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8463" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8505", "name": "dermatitis herpetiformis", "description": "", "url": "https://disease-ontology.org/term/DOID:8505", "evidence": [ { "id": "8505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8505" } ], "weight": 0.0 }, { "disease_id": "DOID:8515", "name": "Cor pulmonale", "description": "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.", "url": "https://disease-ontology.org/term/DOID:8515", "evidence": [ { "id": "8515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8515" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID: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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9155", "name": "mucocutaneous leishmaniasis", "description": "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.", "url": "https://disease-ontology.org/term/DOID:9155", "evidence": [ { "id": "9155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9155" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9402", "name": "epididymitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9402", "evidence": [ { "id": "9402", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9402" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of hepatocyte proliferation", "id": "GO:2000347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000347", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of vitamin D biosynthetic process", "id": "GO:0060557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060557", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of immunoglobulin production", "id": "GO:0002637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002637", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to vascular endothelial cell", "id": "GO:1904996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904996", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002925", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of establishment of endothelial barrier", "id": "GO:1903140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903140", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of bicellular tight junction assembly", "id": "GO:1903347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903347", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of vascular wound healing", "id": "GO:0061044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061044", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of L-glutamate import across plasma membrane", "id": "GO:0002037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002037", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "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": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of membrane protein ectodomain proteolysis", "id": "GO:0051044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051044", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of pain", "id": "GO:0050966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of oxidative phosphorylation", "id": "GO:0090324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090324", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of protein secretion", "id": "GO:0050708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050708", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "vascular endothelial growth factor production", "id": "GO:0010573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010573", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "leukocyte tethering or rolling", "id": "GO:0050901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050901", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of action potential", "id": "GO:0045760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045760", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta clearance", "id": "GO:1900222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900222", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of JUN kinase activity", "id": "GO:0043507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043507", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of blood microparticle formation", "id": "GO:2000334", "url": 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"" }, { "name": "regulation of endothelial cell apoptotic process", "id": "GO:2000351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000351", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": "https://www.uniprot.org/uniprotkb/P06804" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "P06804", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "P0DJF3", "url": "https://www.uniprot.org/uniprotkb/P0DJF3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0DJF3-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asn118", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "P0DJF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DJF3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P0DJF3-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Asn36", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 36, "start_aa": "Asn", "end_pos": 36, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn36", "evidence": [ { "id": "P0DJF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0DJF3#ptm_processing" } ] } ] } ], "record_id": "P0DJF3-1" }, { "uniprot_canonical_ac": "P20801-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P20801", "url": "https://www.uniprot.org/uniprotkb/P20801" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 160, "chemical_mass": 18110.0, "gene_names": "Tnnc2;Tncs;Tnnc2", "protein_name": "Troponin C, skeletal muscle", "disease": [ { "disease_id": "DOID:0081347", "name": "congenital myopathy 15", "description": "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding.", "url": "https://disease-ontology.org/term/DOID:0081347", "evidence": [ { "id": "0081347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081347" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "P20801", "url": "https://www.uniprot.org/uniprotkb/P20801" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P20801", "url": "https://www.uniprot.org/uniprotkb/P20801" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P20801", "url": "https://www.uniprot.org/uniprotkb/P20801" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P20801", "url": "https://www.uniprot.org/uniprotkb/P20801" } ], "pmid": "" } ], "cellular_component": [ { "name": "troponin complex", "id": "GO:0005861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005861", "evidence": [ { "database": "UniProtKB", "id": "P20801", "url": "https://www.uniprot.org/uniprotkb/P20801" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P20801-1" }, { "uniprot_canonical_ac": "P41539-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 130, "chemical_mass": 15045.0, "gene_names": "Tac1;4930528L02Rik;NK-1;NK1;Nka;Nkna;PPT-A;PPTA;SP;Tac1;Tac2", "protein_name": "Protachykinin-1", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:9220", "name": "central sleep apnea", "description": "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.", "url": "https://disease-ontology.org/term/DOID:9220", "evidence": [ { "id": "9220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9220" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of synaptic transmission, cholinergic", "id": "GO:0032224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032224", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "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": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "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": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "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": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "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": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, GABAergic", "id": "GO:0032230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of mast cell degranulation", "id": "GO:0043306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043306", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response", "id": "GO:0002675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002675", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of action potential", "id": "GO:0045760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045760", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "tachykinin receptor signaling pathway", "id": "GO:0007217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007217", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of corticosterone secretion", "id": "GO:2000854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000854", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of sensory perception of pain", "id": "GO:1904058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904058", "evidence": [ { "database": "UniProtKB", "id": "P41539", "url": "https://www.uniprot.org/uniprotkb/P41539" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093", "url": 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"id": "rs3389530445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389530445" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1187", "end_pos": "1187", "site_lbl": "Met1187", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21822167", "evidence": [ { "id": "rs3389488352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389488352" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Ala1245", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21829626", "evidence": [ { "id": "rs30561270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30561270" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1249", "end_pos": "1249", "site_lbl": "Ile1249", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21829637", "evidence": [ { "id": "rs38391542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38391542" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1297", "end_pos": "1297", "site_lbl": "Gln1297", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21833062", "evidence": [ { "id": "rs253071661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253071661" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1306", "end_pos": "1306", "site_lbl": "Val1306", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21833087", "evidence": [ { "id": "rs232966104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232966104" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Ala130", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21774747", "evidence": [ { "id": "rs223792239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223792239" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Lys131", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21774752", "evidence": [ { "id": "rs3409003778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409003778" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1327", "end_pos": "1327", "site_lbl": "Ser1327", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21833544", "evidence": [ { "id": "rs261973307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261973307" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "1342", "end_pos": "1342", "site_lbl": "Asp1342", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21833587", "evidence": [ { "id": "rs265875439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265875439" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ile152", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21774813", "evidence": [ { "id": "rs242293261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242293261" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Phe162", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775242", "evidence": [ { "id": "rs3389540142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389540142" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Gly163", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775245", "evidence": [ { "id": "rs3389546589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389546589" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Glu210", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775388", "evidence": [ { "id": "rs3389498217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498217" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ala244", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775488", "evidence": [ { "id": "rs3389498204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498204" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Leu247", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775497", "evidence": [ { "id": "rs3389536298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536298" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Arg333", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775755", "evidence": [ { "id": "rs3389544033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544033" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Lys337", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21775768", "evidence": [ { "id": "rs3389511529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389511529" } ] } ], "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Does not affect hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "37196767", "url": "https://glygen.org/publication/PubMed/37196767" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Gly356", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21779258", "evidence": [ { "id": "rs3389498299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498299" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21779301", "evidence": [ { "id": "rs3389546599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389546599" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Glu382", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21779337", "evidence": [ { "id": "rs3389540101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389540101" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ala38", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21770126", "evidence": [ { "id": "rs225308600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225308600" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ile403", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21784725", "evidence": [ { "id": "rs3389540109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389540109" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Thr426", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21784795", "evidence": [ { "id": "rs253972055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253972055" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Tyr440", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21784837", "evidence": [ { "id": "rs3389488379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389488379" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Glu447", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21784859", "evidence": [ { "id": "rs3389536261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536261" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Arg452", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21784873", "evidence": [ { "id": "rs259656357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259656357" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Tyr469", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21786644", "evidence": [ { "id": "rs3389439612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439612" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Leu487", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21786698", "evidence": [ { "id": "rs3389546618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389546618" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Asp512", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21786775", "evidence": [ { "id": "rs3389524713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389524713" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "519", "end_pos": "519", "site_lbl": "His519", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21786795", "evidence": [ { "id": "rs3412846771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412846771" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Leu553", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789224", "evidence": [ { "id": "rs3389532382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532382" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ala567", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789267", "evidence": [ { "id": "rs3389536292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536292" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Gly571", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789279", "evidence": [ { "id": "rs3389540083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389540083" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Tyr618", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789654", "evidence": [ { "id": "rs3389536276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536276" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Leu630", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789690", "evidence": [ { "id": "rs3389544048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544048" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Ser637", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789712", "evidence": [ { "id": "rs3389439626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439626" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Val642", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789725", "evidence": [ { "id": "rs36266232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36266232" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Gly649", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "21789747", "evidence": [ { "id": "rs3389488326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389488326" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Pro653", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation 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Hyaluronidase activity is abolished; when associated with 303-F.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "37196767", "url": "https://glygen.org/publication/PubMed/37196767" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreased hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "28246172", "url": "https://glygen.org/publication/PubMed/28246172" } ] }, { "sequence_org": "R", "sequence_mut": "C", "comment": "Strongly decreased hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "28246172", "url": "https://glygen.org/publication/PubMed/28246172" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Asp273", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Strongly decreased hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "28246172", "url": "https://glygen.org/publication/PubMed/28246172" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Asp275", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not affect hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "28246172", "url": "https://glygen.org/publication/PubMed/28246172" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Val279", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Slightly increases of hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "37196767", "url": "https://glygen.org/publication/PubMed/37196767" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Asp286", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Strongly decreased hyaluronidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWI3", "url": "https://www.uniprot.org/uniprotkb/Q5FWI3" }, { "database": "PubMed", "id": "28246172", "url": "https://glygen.org/publication/PubMed/28246172" } ] } ] }, { "uniprot_canonical_ac": "Q5FWI3-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ala303", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "F", "comment": "Slight suppression of hyaluronidase activity. 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 37315.0, "gene_names": "Thoc6;F830014G06Rik;Thoc6;Wdr58", "protein_name": "THO complex subunit 6 homolog", "disease": [], "cellular_component": [ { "name": "THO complex", "id": "GO:0000347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000347", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "THO complex part of transcription export complex", "id": "GO:0000445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000445", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "transcription export complex", "id": "GO:0000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000346", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5U4D9-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U4D9", "url": "https://www.uniprot.org/uniprotkb/Q5U4D9" } ] } ] } ], "record_id": "Q5U4D9-1" }, { "uniprot_canonical_ac": "Q61382-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61382", "url": "https://www.uniprot.org/uniprotkb/Q61382" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 470, "chemical_mass": 53504.0, "gene_names": "Traf4;A530032M13Rik;CART1;Cart1;Traf4;msp2", "protein_name": "TNF receptor-associated factor 4", "disease": [ { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": 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"https://www.uniprot.org/uniprotkb/Q61382" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q61382", "url": "https://www.uniprot.org/uniprotkb/Q61382" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61382", "url": "https://www.uniprot.org/uniprotkb/Q61382" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q61382", "url": "https://www.uniprot.org/uniprotkb/Q61382" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61382", "url": "https://www.uniprot.org/uniprotkb/Q61382" } ], 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"Tnfrsf17;BCMA;BCM;Bcma;Bcm;Tnfrsf13a;Tnfrsf13;Tnfrsf17", "protein_name": "Tumor necrosis factor receptor superfamily member 17", "disease": [ { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lymphocyte homeostasis", "id": "GO:0002260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002260", "evidence": [ { "database": "UniProtKB", "id": "O88472", "url": "https://www.uniprot.org/uniprotkb/O88472" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "O88472", "url": "https://www.uniprot.org/uniprotkb/O88472" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "O88472", "url": "https://www.uniprot.org/uniprotkb/O88472" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88472", "url": "https://www.uniprot.org/uniprotkb/O88472" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O88472", "url": "https://www.uniprot.org/uniprotkb/O88472" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88472-1" }, { "uniprot_canonical_ac": "P11214-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 559, "chemical_mass": 63097.0, "gene_names": "Plat;D8Ertd2e;Plat;tPA", "protein_name": "Tissue-type plasminogen activator", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } ], "weight": 0.0 }, { "disease_id": "DOID:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0060573", "evidence": [ { "id": "0060573", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060573" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:1247", "name": "blood coagulation disease", "description": "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.", "url": "https://disease-ontology.org/term/DOID:1247", "evidence": [ { "id": "1247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1247" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID: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:615", "name": "leukopenia", "description": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.", "url": "https://disease-ontology.org/term/DOID:615", "evidence": [ { "id": "615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:615" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "pmid": "" }, { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P11214", "url": "https://www.uniprot.org/uniprotkb/P11214" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": 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] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Val32", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88066289", "evidence": [ { "id": "rs3388486698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486698" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142896", "evidence": [ { "id": "rs47208592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47208592" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Val331", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143517", "evidence": [ { "id": "rs3539457654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457654" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143548", "evidence": [ { "id": "rs1133694053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133694053" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Leu349", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143571", "evidence": [ { "id": "rs3539459893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539459893" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Trp352", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143580", "evidence": [ { "id": "rs3388484765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484765" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Pro354", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143587", "evidence": [ { "id": "rs3539454069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454069" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "361", "end_pos": "361", "site_lbl": "His361", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143862", "evidence": [ { "id": "rs3388486417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486417" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Thr369", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143887", "evidence": [ { "id": "rs48157063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48157063" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "374", "end_pos": "374", "site_lbl": "His374", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143901", "evidence": [ { "id": "rs46352019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46352019" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Pro385", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143935", "evidence": [ { "id": "rs49604602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49604602" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Ala399", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143976", "evidence": [ { "id": "rs48308731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48308731" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Arg401", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143982", "evidence": [ { "id": "rs3388485503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485503" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143983", "evidence": [ { "id": "rs49274850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49274850" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Arg405", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ala424", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88144051", "evidence": [ { "id": "rs3539461379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539461379" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Lys435", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145853", "evidence": [ { "id": "rs3388484939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484939" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Arg440", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145868", "evidence": [ { "id": "rs47490282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47490282" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Glu44", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88066327", "evidence": [ { "id": "rs583202707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583202707" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Arg465", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145943", "evidence": [ { "id": "rs3388484946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484946" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Lys467", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145951", "evidence": [ { "id": "rs3388485634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485634" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "471", "end_pos": "471", "site_lbl": "His471", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145962", "evidence": [ { "id": "rs49647345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49647345" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Arg473", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145967", "evidence": [ { "id": "rs50150817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50150817" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Pro474", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145971", "evidence": [ { "id": "rs49527860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49527860" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ala476", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145976", "evidence": [ { "id": "rs49572031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49572031" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Glu47", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88066334", "evidence": [ { "id": "rs3388485645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485645" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Gln483", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145999", "evidence": [ { "id": "rs3539455393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539455393" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Tyr484", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146001", "evidence": [ { "id": "rs46635214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46635214" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "485", "end_pos": "485", "site_lbl": "His485", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146005", "evidence": [ { "id": "rs47264151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47264151" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Phe492", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146025", "evidence": [ { "id": "rs3539452646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539452646" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Leu49", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88022987", "evidence": [ { "id": "rs30307130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30307130" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Val504", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146060", "evidence": [ { "id": "rs3539454537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454537" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Phe505", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146063", "evidence": [ { "id": "rs3388486245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486245" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Gly511", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146082", "evidence": [ { "id": "rs46776285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46776285" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Arg521", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146112", "evidence": [ { "id": "rs50202345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50202345" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "526", "end_pos": "526", "site_lbl": "His526", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146127", "evidence": [ { "id": "rs3539454471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454471" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ile56", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88066362", "evidence": [ { "id": "rs3388488586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488586" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Leu66", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88066391", "evidence": [ { "id": "rs3388484924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484924" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Tyr72", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88066411", "evidence": [ { "id": "rs3388488480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488480" } ] } ] }, { "uniprot_canonical_ac": "Q64435-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 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"evidence": [ { "database": "UniProtKB", "id": "A2APC3", "url": "https://www.uniprot.org/uniprotkb/A2APC3" } ], "pmid": "" }, { "name": "protein polyglutamylation", "id": "GO:0018095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018095", "evidence": [ { "database": "UniProtKB", "id": "A2APC3", "url": "https://www.uniprot.org/uniprotkb/A2APC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2APC3-1" }, { "uniprot_canonical_ac": "P25785-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P25785", "url": "https://www.uniprot.org/uniprotkb/P25785" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 220, "chemical_mass": 24328.0, "gene_names": "Timp2;Timp-2", "protein_name": "Metalloproteinase inhibitor 2", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is 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which includes the arteries, veins and capillaries that carry blood to and from the heart.", "url": "https://disease-ontology.org/term/DOID:178", "evidence": [ { "id": "178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:178" } ], "weight": 0.0 }, { "disease_id": "DOID:2006", "name": "preretinal fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:2006", "evidence": [ { "id": "2006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2006" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": 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"start_pos": "536", "end_pos": "536", "site_lbl": "Asn536", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 536, "start_aa": "Asn", "end_pos": 536, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn536", "evidence": [ { "id": "Q6P5E4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6P5E4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Ser931", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 931, "start_aa": "Ser", "end_pos": 931, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser931", "evidence": [ { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" }, { "id": "Q6P5E4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P5E4" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q6P5E4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P5E4" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1277", "end_pos": "1277", "site_lbl": "Ser1277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5E4", "url": "https://www.uniprot.org/uniprotkb/Q6P5E4" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Asp805", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DSS->NSS); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36214126", "evidence": [ { "id": "rs236790972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236790972" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ile86", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (IGS->NGS); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36269759", "evidence": [ { "id": "rs3388461941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388461941" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Val102", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36266669", "evidence": [ { "id": "rs3388463100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463100" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1036", "end_pos": "1036", "site_lbl": "Phe1036", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202490", "evidence": [ { "id": "rs3388462090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462090" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1049", "end_pos": "1049", "site_lbl": "Ala1049", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202451", "evidence": [ { "id": "rs3389758320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389758320" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1050", "end_pos": "1050", "site_lbl": "Asp1050", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202446", "evidence": [ { "id": "rs3389841475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389841475" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1061", "end_pos": "1061", "site_lbl": "Phe1061", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202415", "evidence": [ { "id": "rs3389855592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389855592" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1070", "end_pos": "1070", "site_lbl": "Phe1070", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202389_36202390insTCCACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388462720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462720" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1071", "end_pos": "1071", "site_lbl": "Thr1071", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202385", "evidence": [ { "id": "rs3388463124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463124" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1076", "end_pos": "1076", "site_lbl": "Thr1076", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36202370", "evidence": [ { "id": "rs3388463312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463312" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1100", "end_pos": "1100", "site_lbl": "Asp1100", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36201439", "evidence": [ { "id": "rs37279448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37279448" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1116", "end_pos": "1116", "site_lbl": "Gly1116", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36201392", "evidence": [ { "id": "rs3389859318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389859318" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1148", "end_pos": "1148", "site_lbl": "Met1148", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36201297", "evidence": [ { "id": "rs3389816542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389816542" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1179", "end_pos": "1179", "site_lbl": "Tyr1179", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36200761", "evidence": [ { "id": "rs3388464433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464433" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Phe120", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36266615", "evidence": [ { "id": "rs3388463308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463308" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1269", "end_pos": "1269", "site_lbl": "Arg1269", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36196490", "evidence": [ { "id": "rs3388462382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462382" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "Lys1292", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36195332", "evidence": [ { "id": "rs3388462216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462216" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "Lys1309", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36194312", "evidence": [ { "id": "rs3388462081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462081" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1329", "end_pos": "1329", "site_lbl": "Thr1329", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36194251", "evidence": [ { "id": "rs3539104003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539104003" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1337", "end_pos": "1337", "site_lbl": "Gly1337", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36194228", "evidence": [ { "id": "rs3388461997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388461997" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1338", "end_pos": "1338", "site_lbl": "Tyr1338", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36194225", "evidence": [ { "id": "rs3388462523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462523" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Lys1353", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36194180", "evidence": [ { "id": "rs3388461953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388461953" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Asp1376", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36190832", "evidence": [ { "id": "rs3388463247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463247" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1416", "end_pos": "1416", "site_lbl": "Ala1416", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36189239", "evidence": [ { "id": "rs3388462507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462507" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1420", "end_pos": "1420", "site_lbl": "Val1420", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36189226", "evidence": [ { "id": "rs3388463265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463265" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1432", "end_pos": "1432", "site_lbl": "Asp1432", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36189190", "evidence": [ { "id": "rs3388462321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462321" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Gln1437", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36189176", "evidence": [ { "id": "rs3413117329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413117329" } ] }, { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36189174", "evidence": [ { "id": "rs3388464129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464129" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1459", "end_pos": "1459", "site_lbl": "Met1459", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36185807", "evidence": [ { "id": "rs3389852296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389852296" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1469", "end_pos": "1469", "site_lbl": "Pro1469", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36185777", "evidence": [ { "id": "rs3388463176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463176" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1507", "end_pos": "1507", "site_lbl": "Val1507", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36185224", "evidence": [ { "id": "rs3388463261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463261" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "1524", "end_pos": "1524", "site_lbl": "Gln1524", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36185172", "evidence": [ { "id": "rs3388463139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463139" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Leu161", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36215336", "evidence": [ { "id": "rs3388463945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463945" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Thr163", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36260326", "evidence": [ { "id": "rs3388464349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464349" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ala171", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36260302", "evidence": [ { "id": "rs3388462401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462401" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ala172", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36260300", "evidence": [ { "id": "rs39000705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39000705" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Lys222", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36255244", "evidence": [ { "id": "rs3389842003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389842003" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36255244_36255245insCAGATAGCTAGCTCCGAGATCGGAGCTAGCT", "evidence": [ { "id": "rs3389842008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389842008" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Arg22", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36274017", "evidence": [ { "id": "rs5524776086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5524776086" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ile231", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36213996", "evidence": [ { "id": "rs3388464397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464397" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Glu275", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36249114", "evidence": [ { "id": "rs3388462356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462356" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ile29", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36273997", "evidence": [ { "id": "rs247626936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247626936" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Ala331", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36241942", "evidence": [ { "id": "rs3388462315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462315" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Val344", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36241903", "evidence": [ { "id": "rs3388463345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463345" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Pro34", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36273981", "evidence": [ { "id": "rs226580285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226580285" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Asp390", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36236683", "evidence": [ { "id": "rs3388462276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462276" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ile437", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36234998", "evidence": [ { "id": "rs3388463112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463112" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Arg493", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36231487", "evidence": [ { "id": "rs3388462763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462763" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Asp546", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36224997", "evidence": [ { "id": "rs32603286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32603286" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Val551", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36224982", "evidence": [ { "id": "rs3388462856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462856" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Asn556", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36224965", "evidence": [ { "id": "rs254017958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254017958" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ala559", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36224957", "evidence": [ { "id": "rs223421107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223421107" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Val562", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36224948", "evidence": [ { "id": "rs3413077215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413077215" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Tyr565", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36224940", "evidence": [ { "id": "rs256260029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256260029" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Arg579", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36223552_36223553insACACTACCTCAACCAT", "evidence": [ { "id": "rs3412977884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412977884" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Thr580", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36223549", "evidence": [ { "id": "rs3388461977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388461977" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Glu582", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36223543", "evidence": [ { "id": "rs3388462243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462243" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Thr583", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36223540", "evidence": [ { "id": "rs3388464031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464031" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Tyr612", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36223453", "evidence": [ { "id": "rs3389841195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389841195" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Arg616", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36223441", "evidence": [ { "id": "rs36257646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36257646" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Glu624", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36221695", "evidence": [ { "id": "rs3388464378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464378" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Pro648", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36221625", "evidence": [ { "id": "rs3388462696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388462696" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Gln667", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36221568", "evidence": [ { "id": "rs3388461969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388461969" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Glu674", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36218757", "evidence": [ { "id": "rs3389841402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389841402" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Leu778", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36215336", "evidence": [ { "id": "rs3388463945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463945" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Asn789", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36214174", "evidence": [ { "id": "rs3388463264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463264" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36269783", "evidence": [ { "id": "rs3388463116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388463116" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Glu802", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36214133", "evidence": [ { "id": "rs258978920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258978920" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Ala822", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36214075", "evidence": [ { "id": "rs244362120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244362120" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Ser824", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36214068", "evidence": [ { "id": "rs36927472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36927472" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Thr83", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36269769", "evidence": [ { "id": "rs3388464348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464348" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "848", "end_pos": "848", "site_lbl": "Ile848", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36213996", "evidence": [ { "id": "rs3388464397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388464397" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Phe861", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36213271", "evidence": [ { "id": "rs3389864239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389864239" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "36213272", "evidence": [ { "id": "rs3412747775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412747775" } ] } ] }, { "uniprot_canonical_ac": "Q6P5E4-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "snv": [ { "sequence_org": 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"uniprot_canonical_ac": "Q3UP75-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9280125", "evidence": [ { "id": "rs3551491054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551491054" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ala2", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9280043", "evidence": [ { "id": "rs3551456482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551456482" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Gly301", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9310621", "evidence": [ { "id": "rs50316754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50316754" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ser305", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9310632", "evidence": [ { "id": "rs3389350373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350373" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Leu31", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 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"evidence": [ { "id": "rs579733468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579733468" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9310717", "evidence": [ { "id": "rs586343922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586343922" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9310742", "evidence": [ { "id": "rs46956136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46956136" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "380", "end_pos": "380", "site_lbl": "His380", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9311899", "evidence": [ { "id": "rs3551592694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551592694" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Glu396", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9311947", "evidence": [ { "id": "rs3551742025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551742025" } ] } ] }, { 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"weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9312021", "evidence": [ { "id": "rs3551464313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551464313" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9312020", "evidence": [ { "id": "rs3551486981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551486981" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Gln445", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9314334", "evidence": [ { "id": "rs3551592505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551592505" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9314332", "evidence": [ { "id": "rs3551538800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551538800" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Gly49", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9284211", "evidence": [ { "id": "rs217880853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217880853" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ser517", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9314548", "evidence": [ { "id": "rs3551419331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551419331" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asp52", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9284220", "evidence": [ { "id": "rs238247317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238247317" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Leu57", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9284236", "evidence": [ { "id": "rs255207649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255207649" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Arg5", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9280052", "evidence": [ { "id": "rs3551436593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551436593" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asp62", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9284250", "evidence": [ { "id": "rs3551429746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551429746" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Tyr73", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292085", "evidence": [ { "id": "rs3389323604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389323604" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Leu80", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292107", "evidence": [ { "id": "rs240591431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240591431" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asp83", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292116", "evidence": [ { "id": "rs3389355199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355199" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Thr87", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292128", "evidence": [ { "id": "rs254669362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254669362" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Arg91", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292140", "evidence": [ { "id": "rs230196777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230196777" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Trp92", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292142", "evidence": [ { "id": "rs252137109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252137109" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ile96", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292154", "evidence": [ { "id": "rs222629089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222629089" } ] } ] }, { "uniprot_canonical_ac": "Q3UP75-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Asp97", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9292159", "evidence": [ { "id": "rs241343718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241343718" } ] } ] } ], "record_id": "Q3UP75-1" }, { "uniprot_canonical_ac": "J3S6Y1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3S6Y1", "url": 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"id": "0110540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110540" } ], "weight": 0.0 }, { "disease_id": "DOID:0111662", "name": "ectodermal dysplasia 14", "description": "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.", "url": "https://disease-ontology.org/term/DOID:0111662", "evidence": [ { "id": "0111662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111662" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "J3S6Y1", "url": "https://www.uniprot.org/uniprotkb/J3S6Y1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": 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