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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. 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"id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:14219", "name": "renal tubular acidosis", "description": "A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.", "url": "https://disease-ontology.org/term/DOID:14219", "evidence": [ { "id": "14219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14219" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "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: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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "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:885", "name": "fascioliasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.", "url": "https://disease-ontology.org/term/DOID:885", "evidence": [ { "id": "885", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:885" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": 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"site_lbl": "Pro1304", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797447", "evidence": [ { "id": "rs3389048682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048682" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1333", "end_pos": "1333", "site_lbl": "Trp1333", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797534", "evidence": [ { "id": "rs3389040659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040659" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1337", "end_pos": "1337", "site_lbl": "Phe1337", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797546", "evidence": [ { "id": "rs3389053134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053134" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1361", "end_pos": "1361", "site_lbl": "Thr1361", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797619", "evidence": [ { "id": "rs3389042531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042531" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Gly1376", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797664", "evidence": [ { "id": "rs3389055275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055275" } ] }, { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797663", "evidence": [ { "id": "rs3389048256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048256" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1386", "end_pos": "1386", "site_lbl": "Gln1386", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797695", "evidence": [ { "id": "rs232342654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232342654" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1406", "end_pos": "1406", "site_lbl": "Pro1406", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797753", "evidence": [ { "id": "rs3389048851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048851" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Gly1409", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797762", "evidence": [ { "id": "rs3389050666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050666" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1425", "end_pos": "1425", "site_lbl": "Phe1425", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56797811", "evidence": [ { "id": "rs3389042567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042567" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1448", "end_pos": "1448", "site_lbl": "Ala1448", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56798329", "evidence": [ { "id": "rs245699149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245699149" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Leu1451", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56798338", "evidence": [ { "id": "rs3389048290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048290" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Gly146", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792702", "evidence": [ { "id": "rs3389013834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013834" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1524", "end_pos": "1524", "site_lbl": "Gly1524", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56799705", "evidence": [ { "id": "rs3389048658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048658" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1597", "end_pos": "1597", "site_lbl": "Val1597", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800027", "evidence": [ { "id": "rs3389044660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044660" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1647", "end_pos": "1647", "site_lbl": "Val1647", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800280", "evidence": [ { "id": "rs220670939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220670939" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1653", "end_pos": "1653", "site_lbl": "Gln1653", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800297", "evidence": [ { "id": "rs3389036094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036094" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1654", "end_pos": "1654", "site_lbl": "Ala1654", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56800301", "evidence": [ { "id": "rs3389048701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048701" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1671", "end_pos": "1671", "site_lbl": "Pro1671", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56803922", "evidence": [ { "id": "rs3389042592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042592" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1705", "end_pos": "1705", "site_lbl": "Cys1705", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804023", "evidence": [ { "id": "rs3389050714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050714" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1707", "end_pos": "1707", "site_lbl": "Gln1707", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804029", "evidence": [ { "id": "rs3389048869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048869" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1731", "end_pos": "1731", "site_lbl": "Ala1731", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804382", "evidence": [ { "id": "rs3389055251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055251" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1736", "end_pos": "1736", "site_lbl": "Ala1736", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804396", "evidence": [ { "id": "rs250368644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250368644" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804396", "evidence": [ { "id": "rs250368644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250368644" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1756", "end_pos": "1756", "site_lbl": "Val1756", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804457", "evidence": [ { "id": "rs3389013816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013816" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1767", "end_pos": "1767", "site_lbl": "Val1767", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804489", "evidence": [ { "id": "rs3389048241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048241" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1774", "end_pos": "1774", "site_lbl": "Ala1774", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804510", "evidence": [ { "id": "rs3389036068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036068" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1783", "end_pos": "1783", "site_lbl": "Glu1783", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804537", "evidence": [ { "id": "rs3389044468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044468" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1785", "end_pos": "1785", "site_lbl": "Ala1785", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804543", "evidence": [ { "id": "rs3400004277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400004277" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1786", "end_pos": "1786", "site_lbl": "Ala1786", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804546", "evidence": [ { "id": "rs229077867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229077867" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1813", "end_pos": "1813", "site_lbl": "Thr1813", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804627", "evidence": [ { "id": "rs3389036123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036123" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804628", "evidence": [ { "id": "rs3389044491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044491" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1818", "end_pos": "1818", "site_lbl": "Ala1818", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804643", "evidence": [ { "id": "rs3389053069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053069" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1831", "end_pos": "1831", "site_lbl": "Arg1831", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804682", "evidence": [ { "id": "rs3389044532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044532" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1867", "end_pos": "1867", "site_lbl": "Asp1867", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804789", "evidence": [ { "id": "rs3389021626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021626" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1872", "end_pos": "1872", "site_lbl": "Glu1872", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804806", "evidence": [ { "id": "rs3389013814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013814" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1883", "end_pos": "1883", "site_lbl": "Asn1883", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804839", "evidence": [ { "id": "rs3389021654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021654" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1885", "end_pos": "1885", "site_lbl": "Phe1885", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804845", "evidence": [ { "id": "rs3389048820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048820" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1893", "end_pos": "1893", "site_lbl": "Thr1893", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804868", "evidence": [ { "id": "rs3389013865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013865" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1932", "end_pos": "1932", "site_lbl": "Pro1932", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56804984", "evidence": [ { "id": "rs3389050641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050641" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1952", "end_pos": "1952", "site_lbl": "Arg1952", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805045", "evidence": [ { "id": "rs211753867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211753867" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1964", "end_pos": "1964", "site_lbl": "Thr1964", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805080", "evidence": [ { "id": "rs235210984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235210984" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "1991", "end_pos": "1991", "site_lbl": "Leu1991", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805162", "evidence": [ { "id": "rs3389044499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044499" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2022", "end_pos": "2022", "site_lbl": "Phe2022", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805256", "evidence": [ { "id": "rs233070804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233070804" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Ala2040", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805308", "evidence": [ { "id": "rs1134588878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134588878" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2044", "end_pos": "2044", "site_lbl": "Val2044", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805320", "evidence": [ { "id": "rs3547349486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547349486" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2057", "end_pos": "2057", "site_lbl": "Gly2057", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805360", "evidence": [ { "id": "rs3389013820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013820" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Gly206", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792882", "evidence": [ { "id": "rs3389027339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027339" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2072", "end_pos": "2072", "site_lbl": "Val2072", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805404", "evidence": [ { "id": "rs3389036104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036104" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2094", "end_pos": "2094", "site_lbl": "Pro2094", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805470", "evidence": [ { "id": "rs3389055197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055197" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2105", "end_pos": "2105", "site_lbl": "Gly2105", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805504", "evidence": [ { "id": "rs252218285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252218285" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2121", "end_pos": "2121", "site_lbl": "Arg2121", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805552", "evidence": [ { "id": "rs219630206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219630206" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2122", "end_pos": "2122", "site_lbl": "Asp2122", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805553_56805554insTCCCGCTG", "evidence": [ { "id": "rs3400240126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400240126" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2133", "end_pos": "2133", "site_lbl": "Gly2133", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805588", "evidence": [ { "id": "rs3389044542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044542" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2152", "end_pos": "2152", "site_lbl": "Trp2152", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805645", "evidence": [ { "id": "rs3389048870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048870" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2155", "end_pos": "2155", "site_lbl": "Gly2155", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805653", "evidence": [ { "id": "rs3389048249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048249" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2169", "end_pos": "2169", "site_lbl": "Pro2169", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805696", "evidence": [ { "id": "rs3389021653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021653" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2175", "end_pos": "2175", "site_lbl": "Ser2175", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805713", "evidence": [ { "id": "rs3389055234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055234" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2182", "end_pos": "2182", "site_lbl": "Ser2182", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805734", "evidence": [ { "id": "rs255897013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255897013" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2185", "end_pos": "2185", "site_lbl": "Glu2185", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805745", "evidence": [ { "id": "rs32793885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32793885" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2187", "end_pos": "2187", "site_lbl": "Val2187", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805750", "evidence": [ { "id": "rs247532610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247532610" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2189", "end_pos": "2189", "site_lbl": "Thr2189", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805756", "evidence": [ { "id": "rs3389044688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044688" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2214", "end_pos": "2214", "site_lbl": "Ala2214", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805831", "evidence": [ { "id": "rs261376041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261376041" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2217", "end_pos": "2217", "site_lbl": "Gly2217", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805839", "evidence": [ { "id": "rs227550119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227550119" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2234", "end_pos": "2234", "site_lbl": "Val2234", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805890", "evidence": [ { "id": "rs3389048638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048638" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2235", "end_pos": "2235", "site_lbl": "Cys2235", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805894", "evidence": [ { "id": "rs3389050701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050701" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2248", "end_pos": "2248", "site_lbl": "Leu2248", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805932", "evidence": [ { "id": "rs3389036121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036121" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2263", "end_pos": "2263", "site_lbl": "Gln2263", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56805977", "evidence": [ { "id": "rs3389048832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048832" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2273", "end_pos": "2273", "site_lbl": "Leu2273", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56806007", "evidence": [ { "id": "rs3406005341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406005341" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "2320", "end_pos": "2320", "site_lbl": "Leu2320", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56806148", "evidence": [ { "id": "rs51734042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51734042" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ala30", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56772561", "evidence": [ { "id": "rs3389050709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050709" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ala332", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793261", "evidence": [ { "id": "rs3389042596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042596" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793260", "evidence": [ { "id": "rs3389044472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044472" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Arg334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793266", "evidence": [ { "id": "rs3547298573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547298573" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Gly342", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793290", "evidence": [ { "id": "rs3389053121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053121" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793398", "evidence": [ { "id": "rs235651251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235651251" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Glu397", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793457", "evidence": [ { "id": "rs3389053079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053079" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793456", "evidence": [ { "id": "rs3389048685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048685" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Gly444", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793596", "evidence": [ { "id": "rs3389013836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013836" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793600", "evidence": [ { "id": "rs32795054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32795054" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Leu457", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793635", "evidence": [ { "id": "rs3389044454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044454" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Leu459", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793642", "evidence": [ { "id": "rs3389053152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053152" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Val473", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793683", "evidence": [ { "id": "rs230897038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230897038" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Gln475", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793690", "evidence": [ { "id": "rs3389013813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013813" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ser476", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793692", "evidence": [ { "id": "rs32789814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32789814" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Leu487", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793726", "evidence": [ { "id": "rs265745216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265745216" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Gln539", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793881", "evidence": [ { "id": "rs3389042613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042613" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Thr570", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56793975", "evidence": [ { "id": "rs3389042575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042575" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Cys588", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794029", "evidence": [ { "id": "rs3388994768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388994768" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Leu595", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794049", "evidence": [ { "id": "rs3389044524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044524" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Pro5", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56772487", "evidence": [ { "id": "rs214455629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214455629" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56772486", "evidence": [ { "id": "rs3389040599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040599" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Val624", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794137", "evidence": [ { "id": "rs221825677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221825677" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Val694", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794346", "evidence": [ { "id": "rs3389053138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053138" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Gln714", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794407", "evidence": [ { "id": "rs3389055205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055205" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "733", "end_pos": "733", "site_lbl": "His733", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794463", "evidence": [ { "id": "rs32789818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32789818" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Val742", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794490", "evidence": [ { "id": "rs3547260182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547260182" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Gln750", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794515", "evidence": [ { "id": "rs3389036112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036112" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Thr795", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794650", "evidence": [ { "id": "rs3399166654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399166654" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "827", "end_pos": "827", "site_lbl": "His827", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794745", "evidence": [ { "id": "rs237822271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237822271" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Glu850", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794814", "evidence": [ { "id": "rs265875254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265875254" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "857", "end_pos": "857", "site_lbl": "Leu857", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794836", "evidence": [ { "id": "rs3389042548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042548" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Met868", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794869", "evidence": [ { "id": "rs3389048301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048301" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "887", "end_pos": "887", "site_lbl": "His887", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794926", "evidence": [ { "id": "rs3389013846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013846" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Pro890", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794934", "evidence": [ { "id": "rs3389050676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050676" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Ile898", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56794958", "evidence": [ { "id": "rs3389021625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021625" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Gln91", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56792537", "evidence": [ { "id": "rs3389040661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040661" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Glu943", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795093", "evidence": [ { "id": "rs3389050678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050678" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Gly948", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795108", "evidence": [ { "id": "rs3389027363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027363" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "949", "end_pos": "949", "site_lbl": "Lys949", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795112", "evidence": [ { "id": "rs253948427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253948427" } ] }, { "sequence_org": "K", "sequence_mut": "R*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795111_56795112ins", "evidence": [ { "id": "rs3389055233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389055233" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Ala951", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795118", "evidence": [ { "id": "rs3389050699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050699" } ] }, { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795117", "evidence": [ { "id": "rs3389048631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048631" } ] } ] }, { "uniprot_canonical_ac": "Q8VHY0-1", "start_pos": "952", "end_pos": "952", "site_lbl": "Trp952", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795122", "evidence": [ { "id": "rs3389044701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044701" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "56795120", "evidence": [ { "id": "rs3389042545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042545" } ] } 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"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: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: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: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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": "https://disease-ontology.org/term/DOID:649", "evidence": [ { "id": "649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:649" } ], "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: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: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: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": "positive regulation of microglial cell migration", "id": "GO:1904141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904141", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "leukocyte tethering or rolling", "id": "GO:0050901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "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": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "microglial cell activation involved in immune response", "id": "GO:0002282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002282", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "negative regulation of chronic inflammatory response to non-antigenic stimulus", "id": "GO:0002881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002881", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "synapse pruning", "id": "GO:0098883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098883", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "regulation of nitric oxide biosynthetic process", "id": "GO:0045428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045428", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0D9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0D9" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": 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"DOID:5742", "name": "pancreatic acinar cell adenocarcinoma", "description": "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.", "url": "https://disease-ontology.org/term/DOID:5742", "evidence": [ { "id": "5742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5742" } ], "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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "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 } ], "molecular_function": [ { "name": "connexin binding", "id": "GO:0071253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071253", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "signaling receptor activator activity", "id": "GO:0030546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030546", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "BMP receptor binding", "id": "GO:0070700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070700", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of early endosome to late endosome transport", "id": "GO:2000641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000641", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance", "id": "GO:0032205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032205", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of ovarian follicle development", "id": "GO:2000386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000386", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of caveolin-mediated endocytosis", "id": "GO:2001286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001286", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "primary ovarian follicle growth", "id": "GO:0001545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001545", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000588", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cellular response to progesterone stimulus", "id": "GO:0071393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071393", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "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": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": 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"database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "mitochondrion-derived vesicle", "id": "GO:0099073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099073", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": "https://www.uniprot.org/uniprotkb/P05480" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05480", "url": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ], "weight": 0.0 }, { "disease_id": "DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110339", "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ], "weight": 0.0 }, { "disease_id": "DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110340", "evidence": [ { "id": 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"https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.", "url": "https://disease-ontology.org/term/DOID:12347", "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ], "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:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.", "url": "https://disease-ontology.org/term/DOID:13359", "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3507", "name": "dermatofibrosarcoma protuberans", "description": "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.", "url": "https://disease-ontology.org/term/DOID:3507", "evidence": [ { "id": "3507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3507" } ], "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:4154", "name": "dentinogenesis imperfecta", "description": "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:4154", "evidence": [ { "id": "4154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4154" } ], "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:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.", "url": "https://disease-ontology.org/term/DOID:4257", "evidence": [ { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ], "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: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: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: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: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:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen type I trimer", "id": "GO:0005584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005584", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "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": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P11087", "url": "https://www.uniprot.org/uniprotkb/P11087" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": 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has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0080548", "evidence": [ { "id": "0080548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080548" } ], "weight": 0.0 }, { "disease_id": "DOID:0111512", "name": "metachondromatosis", "description": "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.", "url": "https://disease-ontology.org/term/DOID:0111512", "evidence": [ { "id": "0111512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111512" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "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:14291", "name": "Noonan syndrome with multiple lentigines", "description": "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.", "url": "https://disease-ontology.org/term/DOID:14291", "evidence": [ { "id": "14291", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14291" } ], "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:2602", "name": "chondroma", "description": "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.", "url": "https://disease-ontology.org/term/DOID:2602", "evidence": [ { "id": "2602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2602" } ], "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: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:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:8929", "name": "atrophic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8929", "evidence": [ { "id": "8929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of cell adhesion mediated by integrin", "id": "GO:0033628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033628", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "atrioventricular canal development", "id": "GO:0036302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "genitalia development", "id": "GO:0048806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": 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"https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "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": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion mediated by integrin", "id": "GO:0033629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033629", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": "https://www.uniprot.org/uniprotkb/P35235" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P35235", "url": 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Completely abolishes PDGF-stimulated enhancement of transcriptional activity; when associated with A-232; A-325;and A-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PRO", "id": "P01101", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P01101" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "PubMed", "id": "12629509", "url": "https://glygen.org/publication/PubMed/12629509" }, { "database": "PubMed", "id": "21119595", "url": "https://glygen.org/publication/PubMed/21119595" }, { "database": "PubMed", "id": "7588633", "url": "https://glygen.org/publication/PubMed/7588633" }, { "database": "PubMed", "id": "15719069", "url": "https://glygen.org/publication/PubMed/15719069" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Enhanced EGF- and RSK-mediated transformation; when associated with D-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Increased enhancement of EGF- and RSK-mediated transformation; when associated with E-374.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ser374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PRO", "id": "P01101", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P01101" }, { "database": "iPTMnet", "id": "P01101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01101" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" }, { "database": "PubMed", "id": "12629509", "url": "https://glygen.org/publication/PubMed/12629509" }, { "database": "PubMed", "id": "21119595", "url": "https://glygen.org/publication/PubMed/21119595" }, { "database": "PubMed", "id": "22169952", "url": "https://glygen.org/publication/PubMed/22169952" }, { "database": "PubMed", "id": "7588633", "url": "https://glygen.org/publication/PubMed/7588633" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on PDGF-stimulated enhancement of transcriptional activity. Completely abolishes PDGF-stimulated enhancement of transcriptional activity; when associated with A-232; A-325 and A-331.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Enhanced EGF- and RSK-mediated transformation; when associated with D-362.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Enhanced EGF- and RSK-mediated transformation; when associated with E-362.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" }, { "database": "PubMed", "id": "12972619", "url": "https://glygen.org/publication/PubMed/12972619" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ser281", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "12", "chr_pos": "85522931", "evidence": [ { "id": "rs3389225283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225283" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Lys139", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "No effect on activation of phospholipid synthesis.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "22105363", "url": "https://glygen.org/publication/PubMed/22105363" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Arg144", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "No effect on activation of phospholipid synthesis, nor on CDS1-binding.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "22105363", "url": "https://glygen.org/publication/PubMed/22105363" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Arg146", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "N", "comment": "Complete loss of activation of phospholipid synthesis. No effect on CDS1-binding.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "22105363", "url": "https://glygen.org/publication/PubMed/22105363" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Phe343", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Reduced phosphorylation by ERK. Reduced AP1 activity by 65%.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ] }, { "uniprot_canonical_ac": "P01101-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Tyr345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced phosphorylation by ERK.", "evidence": [ { "database": "UniProtKB", "id": "P01101", "url": "https://www.uniprot.org/uniprotkb/P01101" }, { "database": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "P70339-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular function inhibitor activity", "id": "GO:0140678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140678", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70339-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70339", "url": "https://www.uniprot.org/uniprotkb/P70339" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P70339", "url": 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"Foxd1;BF-2;FREAC4;Fkhl8;Foxd1;Freac4;Hfh10;Hfhbf2", "protein_name": "Forkhead box protein D1", "disease": [], "biological_process": [ { "name": "luteinizing hormone secretion", "id": "GO:0032275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032275", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "pattern specification involved in metanephros development", "id": "GO:0072268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072268", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "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": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "metanephric nephron development", "id": "GO:0072210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072210", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "dichotomous subdivision of terminal units involved in ureteric bud branching", "id": "GO:0060678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060678", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "nephrogenic mesenchyme development", "id": "GO:0072076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072076", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "metanephric capsule development", "id": "GO:0072213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072213", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "metanephric capsule specification", "id": "GO:0072267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072267", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q61345", "url": "https://www.uniprot.org/uniprotkb/Q61345" } ], "pmid": "" }, { "name": 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 963, "chemical_mass": 109551.0, "gene_names": "Kif5b;Khcs;Khc;Kif5b;Kns1;Ukhc", "protein_name": "Kinesin-1 heavy chain", "disease": [ { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytolytic granule membrane", "id": "GO:0101004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101004", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "anterograde axonal protein transport", "id": "GO:0099641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099641", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "mitochondrial transport", "id": "GO:0006839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006839", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "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": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "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": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "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": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "plus-end-directed vesicle transport along microtubule", "id": "GO:0072383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072383", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "cytoplasm organization", "id": "GO:0007028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007028", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "anterograde dendritic transport of neurotransmitter receptor complex", "id": "GO:0098971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098971", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "positive regulation of voltage-gated sodium channel activity", "id": "GO:1905152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905152", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "Q61768", "url": "https://www.uniprot.org/uniprotkb/Q61768" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "locomotion involved in locomotory behavior", "id": "GO:0031987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031987", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "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": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": "https://www.uniprot.org/uniprotkb/Q99104" } ], "pmid": "" }, { "name": "post-Golgi vesicle-mediated transport", "id": "GO:0006892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006892", "evidence": [ { "database": "UniProtKB", "id": "Q99104", "url": 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:0080883", "name": "vitamin D-dependent rickets", "description": "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.", "url": "https://disease-ontology.org/term/DOID:0080883", "evidence": [ { "id": "0080883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080883" } ], "weight": 0.0 }, { "disease_id": "DOID:0080884", "name": "vitamin D-dependent rickets type 2A", "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.", "url": "https://disease-ontology.org/term/DOID:0080884", "evidence": [ { "id": "0080884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080884" } ], "weight": 0.0 }, { "disease_id": "DOID:0110276", "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0110276", "evidence": [ { "id": "0110276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110276" } ], "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: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: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:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11202", "name": "primary hyperparathyroidism", "description": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.", "url": "https://disease-ontology.org/term/DOID:11202", "evidence": [ { "id": "11202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11202" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "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: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:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "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: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "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: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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vitamin D receptor signaling pathway", "id": "GO:0070561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070561", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "mammary gland branching involved in pregnancy", "id": "GO:0060745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060745", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "nuclear receptor-mediated bile acid signaling pathway", "id": "GO:0038185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038185", "evidence": [ { "database": "UniProtKB", "id": "P48281", "url": "https://www.uniprot.org/uniprotkb/P48281" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": 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"" }, { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CGT6", "url": "https://www.uniprot.org/uniprotkb/Q8CGT6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": 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cleft lip/palate.", "url": "https://disease-ontology.org/term/DOID:0060330", "evidence": [ { "id": "0060330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060330" } ], "weight": 0.0 }, { "disease_id": "DOID:0060782", "name": "EEC syndrome", "description": "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).", "url": "https://disease-ontology.org/term/DOID:0060782", "evidence": [ { "id": "0060782", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060782" } ], "weight": 0.0 }, { "disease_id": "DOID:0060783", "name": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", "description": "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 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epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "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: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: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:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8584", "name": "Burkitt lymphoma", "description": "A mature B-cell neoplasm of B-cells found in the germinal center.", "url": "https://disease-ontology.org/term/DOID:8584", "evidence": [ { "id": "8584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8584" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to alkaloid", "id": "GO:0043279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043279", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" 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catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "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": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": "https://www.uniprot.org/uniprotkb/P01108" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P01108", "url": 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"evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "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:12215", "name": "oligohydramnios", "description": "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.", "url": "https://disease-ontology.org/term/DOID:12215", "evidence": [ { "id": "12215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12215" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:0035791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035791", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": 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"https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "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": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway", "id": "GO:0038091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038091", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metanephric glomerular capillary formation", "id": "GO:0072277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072277", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell migration involved in vasculogenesis", "id": "GO:0035441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035441", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metanephric mesenchymal cell migration", "id": "GO:0035789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035789", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "lung growth", "id": "GO:0060437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060437", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "cell migration involved in coronary angiogenesis", "id": "GO:0060981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060981", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "metanephric glomerular mesangial cell proliferation involved in metanephros development", "id": "GO:0072262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072262", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "P05622", "url": "https://www.uniprot.org/uniprotkb/P05622" } 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"name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "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": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "O08852", "url": "https://www.uniprot.org/uniprotkb/O08852" } ], "pmid": "" }, { "name": "regulation of mitotic spindle organization", "id": "GO:0060236", "url": 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}, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1080", "end_pos": "1080", "site_lbl": "Leu1080", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791044", "evidence": [ { "id": "rs47376736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47376736" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1117", "end_pos": "1117", "site_lbl": "Arg1117", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791664", "evidence": [ { "id": "rs3389420135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420135" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Phe111", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783354", "evidence": [ { "id": "rs3389438207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438207" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Phe1140", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791732", "evidence": [ { "id": "rs3389433244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433244" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Gln1168", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791817", "evidence": [ { "id": "rs3389433214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433214" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1170", "end_pos": "1170", "site_lbl": "Val1170", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809839", "evidence": [ { "id": "rs107828289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107828289" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1180", "end_pos": "1180", "site_lbl": "Ala1180", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791852", "evidence": [ { "id": "rs33501677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33501677" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Phe1203", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24791923", "evidence": [ { "id": "rs3389389153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389153" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1231", "end_pos": "1231", "site_lbl": "Ser1231", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792006", "evidence": [ { "id": "rs3389441965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441965" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1266", "end_pos": "1266", "site_lbl": "Val1266", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792110", "evidence": [ { "id": "rs3389439313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439313" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Glu128", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24783575", "evidence": [ { "id": "rs3389399250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399250" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "His1292", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792189", "evidence": [ { "id": "rs33423434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33423434" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1302", "end_pos": "1302", "site_lbl": "Gln1302", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792218", "evidence": [ { "id": "rs3389456160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456160" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1315", "end_pos": "1315", "site_lbl": "Pro1315", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792258", "evidence": [ { "id": "rs3389456174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456174" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1331", "end_pos": "1331", "site_lbl": "Val1331", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792306", "evidence": [ { "id": "rs3389420206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420206" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1358", "end_pos": "1358", "site_lbl": "His1358", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792387", "evidence": [ { "id": "rs3389446704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446704" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1365", "end_pos": "1365", "site_lbl": "Phe1365", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792409", "evidence": [ { "id": "rs3389353704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353704" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1400", "end_pos": "1400", "site_lbl": "Pro1400", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792512", "evidence": [ { "id": "rs3389439320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439320" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1429", "end_pos": "1429", "site_lbl": "Tyr1429", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792601", "evidence": [ { "id": "rs3389399326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399326" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Gln1477", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792743", "evidence": [ { "id": "rs3389353634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353634" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1489", "end_pos": "1489", "site_lbl": "Pro1489", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792779", "evidence": [ { "id": "rs3389443161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443161" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1496", "end_pos": "1496", "site_lbl": "Leu1496", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792800", "evidence": [ { "id": "rs3389433251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433251" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1506", "end_pos": "1506", "site_lbl": "Glu1506", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792830", "evidence": [ { "id": "rs3389409259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409259" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1528", "end_pos": "1528", "site_lbl": "Ser1528", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792896", "evidence": [ { "id": "rs3389434089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434089" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1561", "end_pos": "1561", "site_lbl": "Ser1561", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24792997", "evidence": [ { "id": "rs3389389164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389164" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1565", "end_pos": "1565", "site_lbl": "Leu1565", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793007", "evidence": [ { "id": "rs3389434125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434125" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1577", "end_pos": "1577", "site_lbl": "Val1577", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793043", "evidence": [ { "id": "rs3389434086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434086" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1586", "end_pos": "1586", "site_lbl": "Pro1586", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793070", "evidence": [ { "id": "rs3389434122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434122" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1588", "end_pos": "1588", "site_lbl": "Gly1588", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793076", "evidence": [ { "id": "rs3389442005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442005" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1609", "end_pos": "1609", "site_lbl": "Asn1609", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "IQL*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793139_24793140insTACAGCTGTAACCACAGC", "evidence": [ { "id": "rs3407848155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407848155" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Leu1629", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793200", "evidence": [ { "id": "rs3389389161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389161" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1632", "end_pos": "1632", "site_lbl": "Ala1632", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793209", "evidence": [ { "id": "rs29516184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29516184" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1658", "end_pos": "1658", "site_lbl": "Ile1658", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793287", "evidence": [ { "id": "rs3389433553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433553" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1684", "end_pos": "1684", "site_lbl": "Ser1684", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793364", "evidence": [ { "id": "rs33598741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33598741" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1701", "end_pos": "1701", "site_lbl": "Gly1701", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793415", "evidence": [ { "id": "rs3389450991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450991" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1723", "end_pos": "1723", "site_lbl": "Ser1723", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793482", "evidence": [ { "id": "rs3389433486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433486" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1743", "end_pos": "1743", "site_lbl": "Ser1743", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793542", "evidence": [ { "id": "rs3389443125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443125" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1761", "end_pos": "1761", "site_lbl": "Met1761", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793595", "evidence": [ { "id": "rs3389389071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389071" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1768", "end_pos": "1768", "site_lbl": "Phe1768", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793617", "evidence": [ { "id": "rs3389443134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443134" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Ala1770", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793622", "evidence": [ { "id": "rs48866526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48866526" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1805", "end_pos": "1805", "site_lbl": "Arg1805", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793728", "evidence": [ { "id": "rs47072433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47072433" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Pro1839", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793829", "evidence": [ { "id": "rs3389443149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443149" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1845", "end_pos": "1845", "site_lbl": "Ser1845", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793848", "evidence": [ { "id": "rs3389420217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420217" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Leu184", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784005", "evidence": [ { "id": "rs3389353665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353665" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1881", "end_pos": "1881", "site_lbl": "Glu1881", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24793955", "evidence": [ { "id": "rs3389451006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451006" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Gly190", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797169", "evidence": [ { "id": "rs3389443131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443131" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784023", "evidence": [ { "id": "rs240140382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240140382" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1954", "end_pos": "1954", "site_lbl": "His1954", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794176", "evidence": [ { "id": "rs3389439325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439325" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1977", "end_pos": "1977", "site_lbl": "Glu1977", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794243", "evidence": [ { "id": "rs3389420172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420172" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "1993", "end_pos": "1993", "site_lbl": "Gln1993", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794291", "evidence": [ { "id": "rs3389432244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432244" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2003", "end_pos": "2003", "site_lbl": "Tyr2003", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794322", "evidence": [ { "id": "rs3389438215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438215" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2009", "end_pos": "2009", "site_lbl": "Val2009", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794339", "evidence": [ { "id": "rs3389443148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443148" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2020", "end_pos": "2020", "site_lbl": "Arg2020", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794373", "evidence": [ { "id": "rs3389389152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389152" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2037", "end_pos": "2037", "site_lbl": "Arg2037", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794423", "evidence": [ { "id": "rs3389433507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433507" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Asn2040", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794433", "evidence": [ { "id": "rs3407162822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407162822" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2041", "end_pos": "2041", "site_lbl": "Glu2041", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794435", "evidence": [ { "id": "rs3406589133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589133" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2049", "end_pos": "2049", "site_lbl": "Leu2049", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794460", "evidence": [ { "id": "rs3407848136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407848136" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2062", "end_pos": "2062", "site_lbl": "Leu2062", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794499", "evidence": [ { "id": "rs3412986841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412986841" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2085", "end_pos": "2085", "site_lbl": "Arg2085", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794567", "evidence": [ { "id": "rs33197616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33197616" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2099", "end_pos": "2099", "site_lbl": "Gln2099", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794610", "evidence": [ { "id": "rs3389432306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432306" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Gly20", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24769295", "evidence": [ { "id": "rs107641960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107641960" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2108", "end_pos": "2108", "site_lbl": "His2108", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794638", "evidence": [ { "id": "rs3389420212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420212" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2110", "end_pos": "2110", "site_lbl": "Tyr2110", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794642", "evidence": [ { "id": "rs3389389094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389094" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806644", "evidence": [ { "id": "rs3407418924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418924" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806658", "evidence": [ { "id": "rs3407348903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407348903" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806660", "evidence": [ { "id": "rs3407418946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418946" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2224", "end_pos": "2224", "site_lbl": "Tyr2224", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24794984", "evidence": [ { "id": "rs3389456162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456162" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2232", "end_pos": "2232", "site_lbl": "Phe2232", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795008", "evidence": [ { "id": "rs3389409296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409296" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2235", "end_pos": "2235", "site_lbl": "Thr2235", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795018", "evidence": [ { "id": "rs3389354204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354204" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2238", "end_pos": "2238", "site_lbl": "Ala2238", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795026", "evidence": [ { "id": "rs3389432254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432254" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2239", "end_pos": "2239", "site_lbl": "Arg2239", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795029", "evidence": [ { "id": "rs3406589139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589139" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2242", "end_pos": "2242", "site_lbl": "Gln2242", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795040", "evidence": [ { "id": "rs3405714451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405714451" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795039", "evidence": [ { "id": "rs3407430253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407430253" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2250", "end_pos": "2250", "site_lbl": "Glu2250", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795063", "evidence": [ { "id": "rs3389420227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420227" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784129", "evidence": [ { "id": "rs3389353656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353656" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2286", "end_pos": "2286", "site_lbl": "Asp2286", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795171", "evidence": [ { "id": "rs3389354283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354283" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2312", "end_pos": "2312", "site_lbl": "Gly2312", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795443", "evidence": [ { "id": "rs3389389103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389103" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2317", "end_pos": "2317", "site_lbl": "Ser2317", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795459", "evidence": [ { "id": "rs3389443113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443113" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2334", "end_pos": "2334", "site_lbl": "Phe2334", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24795509", "evidence": [ { "id": "rs3389456143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456143" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Gly233", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784152", "evidence": [ { "id": "rs3389409228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409228" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2358", "end_pos": "2358", "site_lbl": "Arg2358", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796512", "evidence": [ { "id": "rs3389389158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389158" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2362", "end_pos": "2362", "site_lbl": "Val2362", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796523", "evidence": [ { "id": "rs3389420159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420159" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2367", "end_pos": "2367", "site_lbl": "Val2367", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796539", "evidence": [ { "id": "rs3389433537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433537" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796538", "evidence": [ { "id": "rs3389399335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399335" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2394", "end_pos": "2394", "site_lbl": "Arg2394", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796621", "evidence": [ { "id": "rs33142571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33142571" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Ser240", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784174", "evidence": [ { "id": "rs3389439333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439333" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2438", "end_pos": "2438", "site_lbl": "Glu2438", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796838", "evidence": [ { "id": "rs3389456173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456173" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2451", "end_pos": "2451", "site_lbl": "Gly2451", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796877", "evidence": [ { "id": "rs3389451030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451030" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2489", "end_pos": "2489", "site_lbl": "Phe2489", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24796992", "evidence": [ { "id": "rs3389446708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446708" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Cys248", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784198", "evidence": [ { "id": "rs3389451051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451051" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2507", "end_pos": "2507", "site_lbl": "Ala2507", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797112", "evidence": [ { "id": "rs33228783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33228783" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797419", "evidence": [ { "id": "rs33323633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33323633" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2526", "end_pos": "2526", "site_lbl": "Gly2526", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797169", "evidence": [ { "id": "rs3389443131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443131" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2531", "end_pos": "2531", "site_lbl": "Tyr2531", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797185", "evidence": [ { "id": "rs3407162864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407162864" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2536", "end_pos": "2536", "site_lbl": "Pro2536", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797199", "evidence": [ { "id": "rs3407554756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407554756" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2546", "end_pos": "2546", "site_lbl": "Ser2546", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797230", "evidence": [ { "id": "rs3389434115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434115" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2547", "end_pos": "2547", "site_lbl": "Leu2547", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797232", "evidence": [ { "id": "rs3389420198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420198" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2577", "end_pos": "2577", "site_lbl": "Pro2577", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797391", "evidence": [ { "id": "rs3389439324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439324" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2586", "end_pos": "2586", "site_lbl": "Ser2586", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797419", "evidence": [ { "id": "rs33323633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33323633" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2602", "end_pos": "2602", "site_lbl": "Gln2602", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797466", "evidence": [ { "id": "rs3389432242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432242" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2629", "end_pos": "2629", "site_lbl": "Val2629", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797818", "evidence": [ { "id": "rs248489710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248489710" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2636", "end_pos": "2636", "site_lbl": "Gln2636", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797839", "evidence": [ { "id": "rs3389389140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389140" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Gln266", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24797466", "evidence": [ { "id": "rs3389432242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432242" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2673", "end_pos": "2673", "site_lbl": "Leu2673", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798711", "evidence": [ { "id": "rs3389433576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433576" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2680", "end_pos": "2680", "site_lbl": "Lys2680", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798732", "evidence": [ { "id": "rs3389456181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456181" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2689", "end_pos": "2689", "site_lbl": "Met2689", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798760", "evidence": [ { "id": "rs3389389093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389093" } ] }, { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798758", "evidence": [ { "id": "rs3389434076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434076" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2710", "end_pos": "2710", "site_lbl": "Ser2710", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798822", "evidence": [ { "id": "rs3389433570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433570" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2719", "end_pos": "2719", "site_lbl": "Ile2719", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798937", "evidence": [ { "id": "rs3389456210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456210" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2732", "end_pos": "2732", "site_lbl": "Leu2732", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798978", "evidence": [ { "id": "rs216395342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216395342" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2744", "end_pos": "2744", "site_lbl": "Ala2744", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799012", "evidence": [ { "id": "rs3389432304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432304" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2756", "end_pos": "2756", "site_lbl": "Arg2756", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799048", "evidence": [ { "id": "rs252101022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252101022" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2764", "end_pos": "2764", "site_lbl": "Leu2764", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799072", "evidence": [ { "id": "rs3389389089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389089" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2773", "end_pos": "2773", "site_lbl": "Gly2773", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799099", "evidence": [ { "id": "rs3389439263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439263" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2796", "end_pos": "2796", "site_lbl": "Gly2796", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799169", "evidence": [ { "id": "rs3389409270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409270" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2822", "end_pos": "2822", "site_lbl": "Phe2822", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799246", "evidence": [ { "id": "rs3389409295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409295" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2824", "end_pos": "2824", "site_lbl": "Val2824", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799253", "evidence": [ { "id": "rs3389420218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420218" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2848", "end_pos": "2848", "site_lbl": "Phe2848", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799324", "evidence": [ { "id": "rs3389441983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441983" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2854", "end_pos": "2854", "site_lbl": "Thr2854", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799343", "evidence": [ { "id": "rs3389439675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439675" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2859", "end_pos": "2859", "site_lbl": "Glu2859", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799357", "evidence": [ { "id": "rs3389456199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456199" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Ser286", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784312", "evidence": [ { "id": "rs3405714469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405714469" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784311", "evidence": [ { "id": "rs3407348880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407348880" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2886", "end_pos": "2886", "site_lbl": "Val2886", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799438", "evidence": [ { "id": "rs214844177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214844177" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2895", "end_pos": "2895", "site_lbl": "Thr2895", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799465", "evidence": [ { "id": "rs237311958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237311958" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2902", "end_pos": "2902", "site_lbl": "Thr2902", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799486", "evidence": [ { "id": "rs3389451029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451029" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2929", "end_pos": "2929", "site_lbl": "Glu2929", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799868", "evidence": [ { "id": "rs3389439261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439261" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2945", "end_pos": "2945", "site_lbl": "Asn2945", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799915", "evidence": [ { "id": "rs3389433481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433481" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2953", "end_pos": "2953", "site_lbl": "Arg2953", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799939", "evidence": [ { "id": "rs3389446714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446714" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2959", "end_pos": "2959", "site_lbl": "Val2959", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799956", "evidence": [ { "id": "rs3389389134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389134" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2979", "end_pos": "2979", "site_lbl": "Leu2979", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800175", "evidence": [ { "id": "rs3389434094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434094" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "2981", "end_pos": "2981", "site_lbl": "Arg2981", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800182", "evidence": [ { "id": "rs3389389116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389116" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Gly29", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787684", "evidence": [ { "id": "rs48951432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48951432" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Thr303", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784362", "evidence": [ { "id": "rs227557533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227557533" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3045", "end_pos": "3045", "site_lbl": "Ala3045", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800374", "evidence": [ { "id": "rs3407665512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407665512" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3060", "end_pos": "3060", "site_lbl": "Glu3060", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800538", "evidence": [ { "id": "rs3389443135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443135" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3088", "end_pos": "3088", "site_lbl": "Arg3088", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800621", "evidence": [ { "id": "rs3389432310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432310" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3095", "end_pos": "3095", "site_lbl": "Val3095", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800642", "evidence": [ { "id": "rs3389443179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443179" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3106", "end_pos": "3106", "site_lbl": "Lys3106", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24800675", "evidence": [ { "id": "rs3389399307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399307" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3142", "end_pos": "3142", "site_lbl": "Gly3142", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804701", "evidence": [ { "id": "rs3389389163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389163" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3159", "end_pos": "3159", "site_lbl": "Ile3159", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804752", "evidence": [ { "id": "rs3389456192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456192" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3177", "end_pos": "3177", "site_lbl": "Trp3177", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804807", "evidence": [ { "id": "rs3389409285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409285" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3202", "end_pos": "3202", "site_lbl": "Ser3202", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804957", "evidence": [ { "id": "rs3389442020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442020" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3222", "end_pos": "3222", "site_lbl": "Val3222", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805017", "evidence": [ { "id": "rs3413011159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413011159" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3233", "end_pos": "3233", "site_lbl": "Ala3233", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805147", "evidence": [ { "id": "rs3552815495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552815495" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3286", "end_pos": "3286", "site_lbl": "Ala3286", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805305", "evidence": [ { "id": "rs3389456128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456128" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3304", "end_pos": "3304", "site_lbl": "Val3304", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805446", "evidence": [ { "id": "rs3389399258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399258" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3310", "end_pos": "3310", "site_lbl": "Pro3310", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805465", "evidence": [ { "id": "rs3389441969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441969" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3324", "end_pos": "3324", "site_lbl": "Val3324", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805506", "evidence": [ { "id": "rs3389450974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450974" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3333", "end_pos": "3333", "site_lbl": "Leu3333", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805533", "evidence": [ { "id": "rs3389439700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439700" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3338", "end_pos": "3338", "site_lbl": "Met3338", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805548", "evidence": [ { "id": "rs3389389129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389129" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3341", "end_pos": "3341", "site_lbl": "Ser3341", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24805558", "evidence": [ { "id": "rs3389456155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456155" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3359", "end_pos": "3359", "site_lbl": "Val3359", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806202", "evidence": [ { "id": "rs3389409234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409234" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3361", "end_pos": "3361", "site_lbl": "Ser3361", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806208", "evidence": [ { "id": "rs3389399268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399268" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Leu337", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24798711", "evidence": [ { "id": "rs3389433576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433576" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3380", "end_pos": "3380", "site_lbl": "Glu3380", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806265", "evidence": [ { "id": "rs3389441977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441977" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3393", "end_pos": "3393", "site_lbl": "Glu3393", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806410", "evidence": [ { "id": "rs3389432301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432301" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3404", "end_pos": "3404", "site_lbl": "Ser3404", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806644", "evidence": [ { "id": "rs3407418924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418924" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3405", "end_pos": "3405", "site_lbl": "Glu3405", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806646", "evidence": [ { "id": "rs3406515894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406515894" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3406", "end_pos": "3406", "site_lbl": "Gly3406", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806649", "evidence": [ { "id": "rs3407848143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407848143" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3409", "end_pos": "3409", "site_lbl": "Ser3409", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806658", "evidence": [ { "id": "rs3407348903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407348903" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806660", "evidence": [ { "id": "rs3407418946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407418946" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3411", "end_pos": "3411", "site_lbl": "Pro3411", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806664", "evidence": [ { "id": "rs3389450976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450976" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3415", "end_pos": "3415", "site_lbl": "Ser3415", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806677", "evidence": [ { "id": "rs3389433487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433487" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ala341", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784477", "evidence": [ { "id": "rs264415704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264415704" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3422", "end_pos": "3422", "site_lbl": "Ser3422", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806698", "evidence": [ { "id": "rs3389409288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409288" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3453", "end_pos": "3453", "site_lbl": "Lys3453", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24806791", "evidence": [ { "id": "rs219840556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219840556" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3491", "end_pos": "3491", "site_lbl": "Ser3491", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809795", "evidence": [ { "id": "rs3389439708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439708" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3492", "end_pos": "3492", "site_lbl": "Ser3492", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809798", "evidence": [ { "id": "rs50641431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50641431" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3506", "end_pos": "3506", "site_lbl": "Val3506", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809839", "evidence": [ { "id": "rs107828289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107828289" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3509", "end_pos": "3509", "site_lbl": "Glu3509", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809848", "evidence": [ { "id": "rs107840595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107840595" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3512", "end_pos": "3512", "site_lbl": "Ala3512", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809858", "evidence": [ { "id": "rs3389439297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439297" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3517", "end_pos": "3517", "site_lbl": "Ser3517", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24809873", "evidence": [ { "id": "rs220122745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220122745" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3565", "end_pos": "3565", "site_lbl": "Trp3565", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810095", "evidence": [ { "id": "rs3389420138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420138" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810093", "evidence": [ { "id": "rs864298690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864298690" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3566", "end_pos": "3566", "site_lbl": "Ile3566", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810096", "evidence": [ { "id": "rs864266799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864266799" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3593", "end_pos": "3593", "site_lbl": "Trp3593", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810179", "evidence": [ { "id": "rs3389354218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354218" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3594", "end_pos": "3594", "site_lbl": "Glu3594", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810180", "evidence": [ { "id": "rs3406589148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406589148" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3605", "end_pos": "3605", "site_lbl": "Phe3605", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810282", "evidence": [ { "id": "rs3389434140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434140" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3640", "end_pos": "3640", "site_lbl": "His3640", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810387", "evidence": [ { "id": "rs3389354264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354264" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3656", "end_pos": "3656", "site_lbl": "Arg3656", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810437", "evidence": [ { "id": "rs3389399298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399298" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3668", "end_pos": "3668", "site_lbl": "Met3668", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810829", "evidence": [ { "id": "rs3389446742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446742" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3670", "end_pos": "3670", "site_lbl": "Phe3670", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810834", "evidence": [ { "id": "rs3389443204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443204" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3674", "end_pos": "3674", "site_lbl": "Thr3674", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810846", "evidence": [ { "id": "rs3553195478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553195478" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Val367", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784555", "evidence": [ { "id": "rs3389442014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442014" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3692", "end_pos": "3692", "site_lbl": "Gln3692", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24810901", "evidence": [ { "id": "rs3389399318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399318" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784561", "evidence": [ { "id": "rs228090772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228090772" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3710", "end_pos": "3710", "site_lbl": "Ser3710", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811587", "evidence": [ { "id": "rs3389409245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409245" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3722", "end_pos": "3722", "site_lbl": "Leu3722", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811622", "evidence": [ { "id": "rs3389451014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451014" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3725", "end_pos": "3725", "site_lbl": "Val3725", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24811631", "evidence": [ { "id": "rs3389456197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456197" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3761", "end_pos": "3761", "site_lbl": "Ala3761", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812221", "evidence": [ { "id": "rs3389409215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409215" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3795", "end_pos": "3795", "site_lbl": "Ala3795", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812451", "evidence": [ { "id": "rs250306528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250306528" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3812", "end_pos": "3812", "site_lbl": "Glu3812", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812502", "evidence": [ { "id": "rs3389446757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446757" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3832", "end_pos": "3832", "site_lbl": "Trp3832", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812564", "evidence": [ { "id": "rs3389442041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442041" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3833", "end_pos": "3833", "site_lbl": "Leu3833", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812565", "evidence": [ { "id": "rs3389451027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451027" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3841", "end_pos": "3841", "site_lbl": "Phe3841", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812786", "evidence": [ { "id": "rs3389432247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432247" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3848", "end_pos": "3848", "site_lbl": "Ser3848", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812808", "evidence": [ { "id": "rs3389446767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446767" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3862", "end_pos": "3862", "site_lbl": "Glu3862", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812849", "evidence": [ { "id": "rs3389446750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446750" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3867", "end_pos": "3867", "site_lbl": "Gly3867", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812865", "evidence": [ { "id": "rs3389354198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354198" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3871", "end_pos": "3871", "site_lbl": "Ala3871", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812876", "evidence": [ { "id": "rs224824041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224824041" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3874", "end_pos": "3874", "site_lbl": "Ser3874", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812886", "evidence": [ { "id": "rs3389433514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433514" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3884", "end_pos": "3884", "site_lbl": "Ser3884", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24812916", "evidence": [ { "id": "rs3389456187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456187" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3904", "end_pos": "3904", "site_lbl": "Phe3904", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813089", "evidence": [ { "id": "rs3389432312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432312" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3921", "end_pos": "3921", "site_lbl": "Ala3921", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813140", "evidence": [ { "id": "rs236409400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236409400" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3940", "end_pos": "3940", "site_lbl": "Leu3940", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813198", "evidence": [ { "id": "rs3389433578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433578" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3945", "end_pos": "3945", "site_lbl": "Gln3945", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813212", "evidence": [ { "id": "rs3389446768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446768" } ] }, { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813212", "evidence": [ { "id": "rs3389446768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446768" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3949", "end_pos": "3949", "site_lbl": "Ala3949", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813224", "evidence": [ { "id": "rs3389420223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420223" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3962", "end_pos": "3962", "site_lbl": "Arg3962", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813264", "evidence": [ { "id": "rs50941934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50941934" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3977", "end_pos": "3977", "site_lbl": "Ala3977", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813309", "evidence": [ { "id": "rs3389433561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433561" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3982", "end_pos": "3982", "site_lbl": "Ala3982", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813323", "evidence": [ { "id": "rs3389440369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440369" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Leu3", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24769244", "evidence": [ { "id": "rs3723472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3723472" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4000", "end_pos": "4000", "site_lbl": "Arg4000", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813460", "evidence": [ { "id": "rs3389433573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433573" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4008", "end_pos": "4008", "site_lbl": "Thr4008", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813484", "evidence": [ { "id": "rs3389433532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433532" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4027", "end_pos": "4027", "site_lbl": "Gly4027", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813540", "evidence": [ { "id": "rs3389456158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456158" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4033", "end_pos": "4033", "site_lbl": "Met4033", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813559", "evidence": [ { "id": "rs3389456211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456211" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4041", "end_pos": "4041", "site_lbl": "Gly4041", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813659", "evidence": [ { "id": "rs3389440378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440378" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4064", "end_pos": "4064", "site_lbl": "Leu4064", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813728", "evidence": [ { "id": "rs3389401985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401985" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4112", "end_pos": "4112", "site_lbl": "Trp4112", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813872_24813873i", "evidence": [ { "id": "rs3407164284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407164284" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4136", "end_pos": "4136", "site_lbl": "Val4136", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813944", "evidence": [ { "id": "rs3389354253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354253" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4138", "end_pos": "4138", "site_lbl": "Glu4138", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24813949", "evidence": [ { "id": "rs3389442004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442004" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4177", "end_pos": "4177", "site_lbl": "Pro4177", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814161", "evidence": [ { "id": "rs3389440317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440317" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4192", "end_pos": "4192", "site_lbl": "Ser4192", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814205", "evidence": [ { "id": "rs3389389112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389112" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4237", "end_pos": "4237", "site_lbl": "Gln4237", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814341", "evidence": [ { "id": "rs13468401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468401" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4250", "end_pos": "4250", "site_lbl": "Pro4250", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814380", "evidence": [ { "id": "rs3389442019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442019" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4263", "end_pos": "4263", "site_lbl": "Arg4263", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814419", "evidence": [ { "id": "rs3389434124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434124" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4283", "end_pos": "4283", "site_lbl": "Trp4283", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24814478", "evidence": [ { "id": "rs3389442011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442011" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Gln435", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784862", "evidence": [ { "id": "rs49772838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49772838" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Trp439", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24784875", "evidence": [ { "id": "rs3389446753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446753" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Gly469", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786120", "evidence": [ { "id": "rs3389443137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443137" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Phe486", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799246", "evidence": [ { "id": "rs3389409295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409295" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Asn493", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786193", "evidence": [ { "id": "rs3407511549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407511549" } ] }, { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786192", "evidence": [ { "id": "rs3407580214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407580214" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Gly4", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24804828", "evidence": [ { "id": "rs46995268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46995268" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Cys507", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786235", "evidence": [ { "id": "rs3389399271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389399271" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Thr518", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24799343", "evidence": [ { "id": "rs3389439675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439675" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Asp519", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786271", "evidence": [ { "id": "rs3407162817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407162817" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Arg532", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786310", "evidence": [ { "id": "rs3552687284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552687284" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Gly551", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24786619", "evidence": [ { "id": "rs3389389128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389128" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Gln603", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787276", "evidence": [ { "id": "rs3389353691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353691" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Glu624", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787624", "evidence": [ { "id": "rs3389439329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439329" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Lys634", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787654", "evidence": [ { "id": "rs3553069235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553069235" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Gly644", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787684", "evidence": [ { "id": "rs48951432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48951432" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "658", "end_pos": "658", "site_lbl": "His658", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787726", "evidence": [ { "id": "rs3389442009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442009" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787750", "evidence": [ { "id": "rs3389438289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438289" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ala673", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787771", "evidence": [ { "id": "rs3389438196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438196" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Phe682", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787797", "evidence": [ { "id": "rs3389456170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456170" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Leu694", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787833", "evidence": [ { "id": "rs3389441998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441998" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Pro703", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788351", "evidence": [ { "id": "rs3407665511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407665511" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Met704", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788354", "evidence": [ { "id": "rs3407665502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407665502" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Leu709", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788369", "evidence": [ { "id": "rs3389353630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353630" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Pro725", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788417", "evidence": [ { "id": "rs3389353663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353663" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Pro731", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788435", "evidence": [ { "id": "rs3389439267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439267" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Leu735", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788447", "evidence": [ { "id": "rs108516640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108516640" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Arg771", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788555", "evidence": [ { "id": "rs33254469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33254469" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Gln785", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788597", "evidence": [ { "id": "rs3389446739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446739" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "789", "end_pos": "789", "site_lbl": "His789", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788608", "evidence": [ { "id": "rs3389409256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389409256" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Leu79", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24787833", "evidence": [ { "id": "rs3389441998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441998" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ile815", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788686", "evidence": [ { "id": "rs250218931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250218931" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Pro825", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788717", "evidence": [ { "id": "rs3389432260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432260" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Ile830", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788731", "evidence": [ { "id": "rs212154969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212154969" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Gln854", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788804", "evidence": [ { "id": "rs3389433258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433258" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Pro869", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788849", "evidence": [ { "id": "rs3552726611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552726611" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Glu871", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788856", "evidence": [ { "id": "rs33551780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33551780" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Asp873", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788860", "evidence": [ { "id": "rs3407511554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407511554" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Val890", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24788912", "evidence": [ { "id": "rs3389353699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389353699" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Ser934", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "17", "chr_pos": "24789044", "evidence": [ { "id": "rs3389389157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389157" } ] } ] }, { "uniprot_canonical_ac": "O08852-1", "start_pos": "95", "end_pos": "95", "site_lbl": 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"positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P09055", "url": "https://www.uniprot.org/uniprotkb/P09055" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "P09055", "url": "https://www.uniprot.org/uniprotkb/P09055" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P09055", "url": "https://www.uniprot.org/uniprotkb/P09055" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P09055", "url": "https://www.uniprot.org/uniprotkb/P09055" } ], "pmid": "" }, { "name": "regulation of collagen catabolic process", 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gene on chromosome Xq13.1.", "url": "https://disease-ontology.org/term/DOID:0060816", "evidence": [ { "id": "0060816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060816" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of dephosphorylation", "id": "GO:0035303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035303", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "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": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "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": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "positive regulation of dephosphorylation", "id": "GO:0035306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035306", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase kinase binding", "id": "GO:0031434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031434", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "Q61249", "url": "https://www.uniprot.org/uniprotkb/Q61249" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "Q61739-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1091, "chemical_mass": 122159.0, "gene_names": "Itga6;5033401O05Rik;Cd49f;Itga6;VLA-6", "protein_name": "Integrin alpha-6", "disease": [ { "disease_id": "DOID:0060733", "name": "junctional epidermolysis bullosa with pyloric atresia", "description": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.", "url": "https://disease-ontology.org/term/DOID:0060733", "evidence": [ { "id": "0060733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060733" } ], "weight": 0.0 }, { "disease_id": "DOID:0060737", "name": "junctional epidermolysis bullosa Herlitz type", "description": "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060737", "evidence": [ { "id": "0060737", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060737" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "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:3209", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.", "url": "https://disease-ontology.org/term/DOID:3209", "evidence": [ { "id": "3209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3209" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "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": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "nail development", "id": "GO:0035878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035878", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "ectodermal cell differentiation", "id": "GO:0010668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010668", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuregulin binding", "id": "GO:0038132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038132", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "insulin-like growth factor I binding", "id": "GO:0031994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031994", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "hemidesmosome", "id": "GO:0030056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "integrin alpha6-beta4 complex", "id": "GO:0034676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034676", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" } ], "pmid": "" }, { "name": "integrin alpha6-beta1 complex", "id": "GO:0034675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034675", "evidence": [ { "database": "UniProtKB", "id": "Q61739", "url": "https://www.uniprot.org/uniprotkb/Q61739" 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cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.", "url": "https://disease-ontology.org/term/DOID:1967", "evidence": [ { "id": "1967", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1967" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2361", "name": "macrocytic anemia", "description": "An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).", "url": "https://disease-ontology.org/term/DOID:2361", "evidence": [ { "id": "2361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2361" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3263", "name": "piebaldism", "description": "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.", "url": "https://disease-ontology.org/term/DOID:3263", "evidence": [ { "id": "3263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3263" } ], "weight": 0.0 }, { "disease_id": "DOID:350", "name": "mastocytosis", "description": "", "url": "https://disease-ontology.org/term/DOID:350", "evidence": [ { "id": "350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:350" } ], "weight": 0.0 }, { "disease_id": "DOID:4226", "name": "endometrial stromal sarcoma", "description": "An endometrial stromal tumor that has_material_basis_in connective tissue.", "url": "https://disease-ontology.org/term/DOID:4226", "evidence": [ { "id": "4226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4226" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5389", "name": "oxyphilic adenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5389", "evidence": [ { "id": "5389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5389" } ], "weight": 0.0 }, { "disease_id": "DOID:6171", "name": "uterine carcinosarcoma", "description": "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.", "url": "https://disease-ontology.org/term/DOID:6171", "evidence": [ { "id": "6171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6171" } ], "weight": 0.0 }, { "disease_id": "DOID:8440", "name": "ileus", "description": "", "url": "https://disease-ontology.org/term/DOID:8440", "evidence": [ { "id": "8440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8440" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID:962", "name": "neurofibroma", "description": "", "url": "https://disease-ontology.org/term/DOID:962", "evidence": [ { "id": "962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:962" } ], "weight": 0.0 } ], "biological_process": [ { "name": "myeloid progenitor cell differentiation", "id": "GO:0002318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002318", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "myeloid leukocyte differentiation", "id": "GO:0002573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002573", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "positive regulation of small intestine smooth muscle contraction", "id": "GO:1904349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904349", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "immature B cell differentiation", "id": "GO:0002327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002327", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "Fc receptor signaling pathway", "id": "GO:0038093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038093", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "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": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "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": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "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": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "positive regulation of pseudopodium assembly", "id": "GO:0031274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031274", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P05532", "url": "https://www.uniprot.org/uniprotkb/P05532" } ], 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"https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "lumenal side of endoplasmic reticulum membrane", "id": "GO:0098553", "url": 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"GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "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": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "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": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "protein heterotetramerization", "id": "GO:0051290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051290", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "detection of mechanical stimulus", "id": "GO:0050982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050982", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "placenta blood vessel development", "id": "GO:0060674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060674", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "metanephric part of ureteric bud development", "id": "GO:0035502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035502", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "negative regulation of ryanodine-sensitive calcium-release channel activity", "id": "GO:0060315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060315", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "cellular response to hydrostatic pressure", "id": "GO:0071464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071464", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "metanephric cortex development", "id": "GO:0072214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072214", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" } ], "pmid": "" }, { "name": "metanephric cortical collecting duct development", "id": "GO:0072219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072219", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": 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"chr_pos": "104624939", "evidence": [ { "id": "rs3395984831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395984831" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Gln253", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104624962", "evidence": [ { "id": "rs3388774669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388774669" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Pro259", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104624980_104624981insTG", "evidence": [ { "id": "rs3395905881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395905881" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Val348", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104626861", "evidence": [ { "id": "rs48573151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48573151" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Trp364", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104628018_104628019insACCAC", "evidence": [ { "id": "rs3396088802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396088802" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Met365", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104628022", "evidence": [ { "id": "rs49788352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49788352" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Lys370", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104628036", "evidence": [ { "id": "rs48970352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48970352" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ala387", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104628086", "evidence": [ { "id": "rs3388771644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771644" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Glu398", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104628120", "evidence": [ { "id": "rs3388775104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775104" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Leu404", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104628138", "evidence": [ { "id": "rs3395724777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395724777" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Ala519", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104634526", "evidence": [ { "id": "rs3388760682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760682" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Asn523", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104634538", "evidence": [ { "id": "rs3388775465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775465" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ser560", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104634648", "evidence": [ { "id": "rs51835614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51835614" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104634649", "evidence": [ { "id": "rs46352854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46352854" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Phe572", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104637102", "evidence": [ { "id": "rs3388771609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771609" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Arg579", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104637124", "evidence": [ { "id": "rs3388772570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772570" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Phe602", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104637194", "evidence": [ { "id": "rs3388763259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763259" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Val621", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104637249", "evidence": [ { "id": "rs3388760633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760633" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Thr626", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104637265", "evidence": [ { "id": "rs3388771600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771600" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Gln634", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104638518", "evidence": [ { "id": "rs3388775110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775110" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Leu654", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104638577", "evidence": [ { "id": "rs3388781330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781330" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Phe659", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104638593", "evidence": [ { "id": "rs3388770334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770334" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Thr719", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104646350", "evidence": [ { "id": "rs3388771687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771687" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "748", "end_pos": "748", "site_lbl": "His748", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104646631", "evidence": [ { "id": "rs3388777737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388777737" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Asp750", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104646638", "evidence": [ { "id": "rs3388771643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771643" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ala755", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104646652", "evidence": [ { "id": "rs3388778927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778927" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "756", "end_pos": "756", "site_lbl": "Ile756", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104646656", "evidence": [ { "id": "rs3388770286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770286" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Leu789", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104647049", "evidence": [ { "id": "rs3388775109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775109" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Gln838", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104647196", "evidence": [ { "id": "rs3388755600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755600" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Asp859", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104650217", "evidence": [ { "id": "rs3388768069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388768069" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "862", "end_pos": "862", "site_lbl": "Ile862", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104650226", "evidence": [ { "id": "rs3412992100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412992100" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Glu866", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104650237", "evidence": [ { "id": "rs3388746382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388746382" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "942", "end_pos": "942", "site_lbl": "Pro942", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104651477", "evidence": [ { "id": "rs3661637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3661637" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Ser961", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104651536", "evidence": [ { "id": "rs3395987667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395987667" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "963", "end_pos": "963", "site_lbl": "Asn963", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "5", "chr_pos": "104651542", "evidence": [ { "id": "rs46393837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46393837" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Glu442", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "In lrm4; mice exhibit gross left-right abnormalities. Embryos do not show defects in kidney development. The nodes appear normal. Abolishes location at nodal cilia, but does not affect interaction with Pkd1l1.", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" }, { "database": "PubMed", "id": "22983710", "url": "https://glygen.org/publication/PubMed/22983710" }, { "database": "PubMed", "id": "21307093", "url": "https://glygen.org/publication/PubMed/21307093" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Asp509", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Abolishes location at nodal cilia and cannot complement the laterality defect of null mutants.", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" }, { "database": "PubMed", "id": "22983710", "url": "https://glygen.org/publication/PubMed/22983710" } ] } ] }, { "uniprot_canonical_ac": "O35245-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Arg6", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on location at nodal cilia and can rescue the laterality defect of null mutants. Abolishes location at nodal cilia and cannot complement the laterality defect of null mutants; when associated with DEL 819-966.", "evidence": [ { "database": "UniProtKB", "id": "O35245", "url": "https://www.uniprot.org/uniprotkb/O35245" }, { "database": "PubMed", "id": "22983710", "url": "https://glygen.org/publication/PubMed/22983710" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "O70343-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 797, "chemical_mass": 90588.0, "gene_names": "Ppargc1a;A830037N07Rik;Gm11133;PGC-1;PPARGC-1-alpha;Pgc-1alpha;Pgc1a;Pgc1;Pgco1;Ppargc1a;Ppargc1", "protein_name": "Peroxisome proliferator-activated receptor gamma coactivator 1-alpha", "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: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:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "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: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:10376", "name": "amblyopia", "description": "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.", "url": "https://disease-ontology.org/term/DOID:10376", "evidence": [ { "id": "10376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10376" } ], "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:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": "https://disease-ontology.org/term/DOID:10871", "evidence": [ { "id": "10871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10871" } ], "weight": 0.0 }, { "disease_id": "DOID:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "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: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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1907", "name": "malignant fibrous histiocytoma", "description": "", "url": "https://disease-ontology.org/term/DOID:1907", "evidence": [ { "id": "1907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1907" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "negative regulation of signaling receptor activity", "id": "GO:2000272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000272", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "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": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "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": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "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": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "O70343", "url": "https://www.uniprot.org/uniprotkb/O70343" } ], "pmid": "" }, { "name": 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autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide", "id": "GO:1903751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903751", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "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": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "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": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "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": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, dopaminergic", "id": "GO:0032226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032226", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of dopamine secretion", "id": "GO:0033603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033603", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "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": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "establishment of protein localization to mitochondrion", "id": "GO:0072655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072655", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "maintenance of protein location in mitochondrion", "id": "GO:0072656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072656", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of catecholamine secretion", "id": "GO:0033605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033605", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of protein targeting to mitochondrion", "id": "GO:1903214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903214", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "mitochondrion to lysosome vesicle-mediated transport", "id": "GO:0099074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099074", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of cristae formation", "id": "GO:1903852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903852", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway", "id": "GO:1903298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903298", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial electron transport, NADH to ubiquinone", "id": "GO:1902958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902958", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903384", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "regulation of hydrogen peroxide metabolic process", "id": "GO:0010310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010310", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": "GO:1905091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905091", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "cellular response to hydrogen sulfide", "id": "GO:1904881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904881", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "C3HC4-type RING finger domain binding", "id": "GO:0055131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055131", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q99MQ3", "url": "https://www.uniprot.org/uniprotkb/Q99MQ3" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "negative regulation of vitamin D biosynthetic process", "id": "GO:0010957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010957", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response 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regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "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": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "positive regulation of lipid 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"name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "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": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "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": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to peptide", "id": "GO:1901653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901653", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "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": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "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": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "mammary gland involution", "id": "GO:0060056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060056", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": 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"name": "cellular response to interleukin-17", "id": "GO:0097398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097398", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" } ], "cellular_component": [ { "name": "I-kappaB/NF-kappaB complex", "id": "GO:0033256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033256", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P25799", "url": "https://www.uniprot.org/uniprotkb/P25799" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P42337", "url": "https://www.uniprot.org/uniprotkb/P42337" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P42337", "url": "https://www.uniprot.org/uniprotkb/P42337" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P42337", "url": "https://www.uniprot.org/uniprotkb/P42337" } ], "pmid": "" }, { "name": "phosphatidylinositol-mediated signaling", "id": "GO:0048015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048015", "evidence": [ { "database": "UniProtKB", "id": "P42337", "url": "https://www.uniprot.org/uniprotkb/P42337" } ], "pmid": "" }, { "name": 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"database": "UniProtKB", "id": "P67778", "url": "https://www.uniprot.org/uniprotkb/P67778" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "P67778", "url": "https://www.uniprot.org/uniprotkb/P67778" } ], "pmid": "" }, { "name": "host-mediated perturbation of viral RNA genome replication", "id": "GO:0044830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044830", "evidence": [ { "database": "UniProtKB", "id": "P67778", "url": "https://www.uniprot.org/uniprotkb/P67778" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P67778", "url": "https://www.uniprot.org/uniprotkb/P67778" } ], "pmid": "" }, { "name": "progesterone receptor signaling pathway", "id": "GO:0050847", 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"start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "Q08481", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08481#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Tyr679", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08481", "url": "https://www.uniprot.org/uniprotkb/Q08481" }, { "database": "iPTMnet", "id": "Q08481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08481" }, { "database": "PubMed", "id": "16731527", "url": "https://glygen.org/publication/PubMed/16731527" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces tyrosine phosphorylation by FER by about 60%.", "evidence": [ { "database": "UniProtKB", "id": "Q08481", "url": "https://www.uniprot.org/uniprotkb/Q08481" }, { "database": "PubMed", "id": "16731527", "url": "https://glygen.org/publication/PubMed/16731527" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Tyr702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08481", "url": "https://www.uniprot.org/uniprotkb/Q08481" }, { "database": "iPTMnet", "id": "Q08481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08481" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "16731527", "url": "https://glygen.org/publication/PubMed/16731527" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces tyrosine phosphorylation by FER by about 60%.", "evidence": [ { "database": "UniProtKB", "id": "Q08481", "url": "https://www.uniprot.org/uniprotkb/Q08481" }, { "database": "PubMed", "id": "16731527", "url": "https://glygen.org/publication/PubMed/16731527" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ser718", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08481", "url": "https://www.uniprot.org/uniprotkb/Q08481" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08481", "url": "https://www.uniprot.org/uniprotkb/Q08481" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Asp170", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DKT->NKT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106588028", "evidence": [ { "id": "rs3389210805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210805" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Tyr215", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (YVT->NVT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106587893", "evidence": [ { "id": "rs258075471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258075471" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFS->NFN); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581860", "evidence": [ { "id": "rs3389209923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389209923" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Thr542", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDT->NDI); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106575909", "evidence": [ { "id": "rs3389220430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220430" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Lys129", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of 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"sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106588105", "evidence": [ { "id": "rs3389186355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389186355" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Gln145", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106588101", "evidence": [ { "id": "rs3389220394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220394" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Lys148", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229139" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "242", "end_pos": "242", "site_lbl": "His242", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586790", "evidence": [ { "id": "rs4229140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229140" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Arg244", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586782", "evidence": [ { "id": "rs4229141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229141" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Val249", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586768", "evidence": [ { "id": "rs4229142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229142" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Thr250", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586765", "evidence": [ { "id": "rs4229143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229143" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Gln254", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586753", "evidence": [ { "id": "rs4229144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229144" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Thr257", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586744", "evidence": [ { "id": "rs4229146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229146" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586745", "evidence": [ { "id": "rs4229145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229145" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Gln262", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586728", "evidence": [ { "id": "rs3389211203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211203" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Glu276", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586688", "evidence": [ { "id": "rs4229147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4229147" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ala303", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106586606", "evidence": [ { "id": "rs221568882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221568882" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Thr353", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581887", "evidence": [ { "id": "rs261997293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261997293" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Tyr358", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581872", "evidence": [ { "id": "rs229268315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229268315" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581841", "evidence": [ { "id": "rs241387030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241387030" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Thr376", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581818", "evidence": [ { "id": "rs3389146896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389146896" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ala377", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581815", "evidence": [ { "id": "rs222492068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222492068" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Gly378", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581813", "evidence": [ { "id": "rs262372914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262372914" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Gly387", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581786", "evidence": [ { "id": "rs241198724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241198724" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Cys394", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106581763", "evidence": [ { "id": "rs3389181191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389181191" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Leu3", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106605871", "evidence": [ { "id": "rs3389223745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223745" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106579858", "evidence": [ { "id": "rs27056294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27056294" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Val445", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106579728", "evidence": [ { "id": "rs245611035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245611035" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Glu46", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106590637", "evidence": [ { "id": "rs220260241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220260241" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ala475", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106579638", "evidence": [ { "id": "rs222979577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222979577" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ile494", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106576053", "evidence": [ { "id": "rs3402760011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402760011" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ile496", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106576047", "evidence": [ { "id": "rs3402872626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402872626" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Ser504", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106576024", "evidence": [ { "id": "rs3413087875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413087875" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106576023", "evidence": [ { "id": "rs3402638699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402638699" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Ser506", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106576017", "evidence": [ { "id": "rs3402926457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402926457" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Glu528", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106575950", "evidence": [ { "id": "rs3389146869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389146869" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ala537", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106575924", "evidence": [ { "id": "rs265086830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265086830" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Trp546", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106575898", "evidence": [ { "id": "rs3389146761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389146761" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Lys56", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106590606", "evidence": [ { "id": "rs3389199607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199607" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106573729", "evidence": [ { "id": "rs3389205813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389205813" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Gly659", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106571893", "evidence": [ { "id": "rs3389220437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220437" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Gln673", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106570431", "evidence": [ { "id": "rs248376146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248376146" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Lys67", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106590573", "evidence": [ { "id": "rs3389210015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210015" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ala692", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "11", "chr_pos": "106570375", "evidence": [ { "id": "rs3389205851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389205851" } ] } ] }, { "uniprot_canonical_ac": "Q08481-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Asp69", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219323695" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Pro410", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7427029", "evidence": [ { "id": "rs3389551241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389551241" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7427028", "evidence": [ { "id": "rs3389497921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389497921" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Cys419", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7427000_7427001insTCAGGATTCTTCCAGCAACCTGTGGCCTGGGTGGCCCCCCAAGGGACCAGG", "evidence": [ { "id": "rs3409412975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409412975" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Pro432", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426963", "evidence": [ { "id": "rs3389506260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389506260" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Gln447", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426918", "evidence": [ { "id": "rs3389516269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516269" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Gly457", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426888", "evidence": [ { "id": "rs3412790612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412790612" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Met464", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426865", "evidence": [ { "id": "rs3409412932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409412932" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426866", "evidence": [ { "id": "rs3408431223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408431223" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Val465", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426864", "evidence": [ { "id": "rs3408355020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408355020" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Gly466", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426861", "evidence": [ { "id": "rs3389551830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389551830" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ala467", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426858", "evidence": [ { "id": "rs3389562602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389562602" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ala473", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426840", "evidence": [ { "id": "rs237885751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237885751" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Asp483", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426809", "evidence": [ { "id": "rs3389559867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389559867" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Thr490", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426788", "evidence": [ { "id": "rs3389516241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516241" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Ser504", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426746", "evidence": [ { "id": "rs3389544699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544699" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Arg505", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426744", "evidence": [ { "id": "rs3409512214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409512214" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ala512", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426722", "evidence": [ { "id": "rs3389554930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389554930" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Gly514", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426716", "evidence": [ { "id": "rs253861684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253861684" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Gly515", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426713", "evidence": [ { "id": "rs242904644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242904644" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Glu516", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426710", "evidence": [ { "id": "rs3554237732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554237732" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Thr521", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426695", "evidence": [ { "id": "rs211930506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211930506" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Ile526", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426679", "evidence": [ { "id": "rs242516215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242516215" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Asp531", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426666", "evidence": [ { "id": "rs3389554913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389554913" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Trp536", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426650", "evidence": [ { "id": "rs3389543905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543905" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Gly561", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426576", "evidence": [ { "id": "rs3409754877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409754877" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "601", "end_pos": "601", "site_lbl": "Leu601", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426456", "evidence": [ { "id": "rs3389543963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543963" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Pro629", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426371", "evidence": [ { "id": "rs244643621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244643621" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Pro642", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426332", "evidence": [ { "id": "rs3389516308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516308" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Gly647", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426317", "evidence": [ { "id": "rs3409412905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409412905" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ile659", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426281", "evidence": [ { "id": "rs3389565990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389565990" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Pro679", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"id": "rs3389551831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389551831" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Val698", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426164", "evidence": [ { "id": "rs247881814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247881814" } ] } ] }, { "uniprot_canonical_ac": "Q9JIG4-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Ser703", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "X", "chr_pos": "7426150", "evidence": [ { "id": "rs3389551782", "database": "dbSNP", "url": 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"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:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": 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cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "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: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: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: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3904", "name": "bronchus carcinoma", "description": "A bronchus cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3904", "evidence": [ { "id": "3904", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3904" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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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:480", "name": "movement disease", "description": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.", "url": "https://disease-ontology.org/term/DOID:480", "evidence": [ { "id": "480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:480" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:4961", "name": "bone marrow disease", "description": "A hematopoietic system disease that is located_in the bone marrow.", "url": "https://disease-ontology.org/term/DOID:4961", "evidence": [ { "id": "4961", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4961" } ], "weight": 0.0 }, { "disease_id": "DOID:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "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 }, { "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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9471", "name": "meningitis", "description": "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.", "url": "https://disease-ontology.org/term/DOID:9471", "evidence": [ { "id": "9471", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9471" } ], "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:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "S-nitrosoglutathione binding", "id": "GO:0035730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035730", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "dinitrosyl-iron complex binding", "id": "GO:0035731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035731", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "JUN kinase binding", "id": "GO:0008432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008432", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "linoleic acid metabolic process", "id": "GO:0043651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043651", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of monocyte chemotactic protein-1 production", "id": "GO:0071638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071638", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell chemotaxis", "id": "GO:0071672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071672", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "glutathione derivative biosynthetic process", "id": "GO:1901687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901687", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "response to L-ascorbic acid", "id": "GO:0033591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033591", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "common myeloid progenitor cell proliferation", "id": "GO:0035726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035726", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "regulation of stress-activated MAPK cascade", "id": "GO:0032872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032872", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "cellular response to cell-matrix adhesion", "id": "GO:0071460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071460", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "P19157", "url": "https://www.uniprot.org/uniprotkb/P19157" } ], "pmid": "" }, { "name": "negative regulation of leukocyte proliferation", "id": "GO:0070664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070664", "evidence": [ { "database": "UniProtKB", "id": "P19157", 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"10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Asn79", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G88891KO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PLNFHNLPEHVDQLLQVDSEDNESQGQVEGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 79, "start_aa": "Asn", "end_pos": 79, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn79", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Ser675", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XPI3", "url": "https://www.uniprot.org/uniprotkb/Q5XPI3" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Gly250", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NFG->NFS); glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107946891", "evidence": [ { "id": "rs3389074419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389074419" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Ser81", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NES->NEI); glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107948582", "evidence": [ { "id": "rs3389018620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389018620" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Asp1024", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107934094", "evidence": [ { "id": "rs3389052195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389052195" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Glu1059", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933882", "evidence": [ { "id": "rs3400429594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400429594" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1075", "end_pos": "1075", "site_lbl": "Phe1075", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933836", "evidence": [ { "id": "rs3389047628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389047628" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1094", "end_pos": "1094", "site_lbl": "Glu1094", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933779", "evidence": [ { "id": "rs3389081631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389081631" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1098", "end_pos": "1098", "site_lbl": "Asp1098", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933767", "evidence": [ { "id": "rs3389039900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389039900" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1112", "end_pos": "1112", "site_lbl": "Ala1112", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933725", "evidence": [ { "id": "rs3400558357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400558357" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Arg1121", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933609", "evidence": [ { "id": "rs3400746511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400746511" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1125", "end_pos": "1125", "site_lbl": "Glu1125", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933597", "evidence": [ { "id": "rs3389068362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389068362" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933597", "evidence": [ { "id": "rs3389068362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389068362" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1154", "end_pos": "1154", "site_lbl": "Gly1154", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933275", "evidence": [ { "id": "rs3389074497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389074497" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Ile1155", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933273", "evidence": [ { "id": "rs3389061066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061066" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1167", "end_pos": "1167", "site_lbl": "Glu1167", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933237", "evidence": [ { "id": "rs3400792653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400792653" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107933236", "evidence": [ { "id": "rs3399560258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399560258" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1182", "end_pos": "1182", "site_lbl": "Gln1182", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929743", "evidence": [ { "id": "rs3389039844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389039844" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1194", "end_pos": "1194", "site_lbl": "Glu1194", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929707", "evidence": [ { "id": "rs3389077168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389077168" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929706", "evidence": [ { "id": "rs3389077233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389077233" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Gln1229", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929465", "evidence": [ { "id": "rs3389047554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389047554" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Gly122", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107947957", "evidence": [ { "id": "rs3389070769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389070769" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1245", "end_pos": "1245", "site_lbl": "Ser1245", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929418", "evidence": [ { "id": "rs3412671724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412671724" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1276", "end_pos": "1276", "site_lbl": "Ala1276", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929157", "evidence": [ { "id": "rs3389047580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389047580" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Arg12", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107954968", "evidence": [ { "id": "rs3400646651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400646651" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1301", "end_pos": "1301", "site_lbl": "Trp1301", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929083", "evidence": [ { "id": "rs3389061054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061054" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "1307", "end_pos": "1307", "site_lbl": "Thr1307", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107929064", "evidence": [ { "id": "rs33280269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33280269" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ile154", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107947767", "evidence": [ { "id": "rs3389047564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389047564" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asp166", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107947488", "evidence": [ { "id": "rs3389018591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389018591" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Trp192", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107947209_107947210insATC", "evidence": [ { "id": "rs3389081077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389081077" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ala193", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107947207", "evidence": [ { "id": "rs3389071648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071648" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ala194", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107947204", "evidence": [ { "id": "rs3389072943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072943" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Arg255", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107946876", "evidence": [ { "id": "rs3412746288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412746288" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Val298", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107946282", "evidence": [ { "id": "rs3389066122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066122" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Leu328", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107946192", "evidence": [ { "id": "rs3389077206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389077206" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Val331", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107945793", "evidence": [ { "id": "rs3389047569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389047569" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Pro396", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107945483", "evidence": [ { "id": "rs3389081097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389081097" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Gln401", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107945467", "evidence": [ { "id": "rs3412796684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412796684" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ile42", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107954591", "evidence": [ { "id": "rs231100425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231100425" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Gly49", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107954569", "evidence": [ { "id": "rs3389070770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389070770" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Pro50", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107954567", "evidence": [ { "id": "rs213768484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213768484" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Tyr525", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "107943878", "evidence": [ { "id": "rs3389066143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066143" } ] } ] }, { "uniprot_canonical_ac": "Q5XPI3-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Lys573", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": 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"database": "UniProtKB", "id": "Q9EQZ7", "url": "https://www.uniprot.org/uniprotkb/Q9EQZ7" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q9EQZ7", "url": "https://www.uniprot.org/uniprotkb/Q9EQZ7" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "Q9EQZ7", "url": "https://www.uniprot.org/uniprotkb/Q9EQZ7" } ], "pmid": "" }, { "name": "positive regulation of inhibitory postsynaptic potential", "id": "GO:0097151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097151", "evidence": [ { "database": "UniProtKB", "id": "Q9EQZ7", "url": "https://www.uniprot.org/uniprotkb/Q9EQZ7" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", 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"comment": "Reduced phosphorylation by OXSR1/OSR1 and STK39/SPAK; when associated with A-58 and A-71. 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No effect on MAPK1/3 (ERK1/2) phosphorylation in response to IL18, with or without IL12. Substantial reduction in MAPK1/3 (ERK1/2) phosphorylation in response to IL18, with or without IL12; when associated with A-53 and A-71.", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "26099046", "url": "https://glygen.org/publication/PubMed/26099046" }, { "database": "PubMed", "id": "16263722", "url": "https://glygen.org/publication/PubMed/16263722" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16263722", "url": "https://glygen.org/publication/PubMed/16263722" }, { "database": "iPTMnet", "id": "P59158", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59158" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced phosphorylation by OXSR1/OSR1 and STK39/SPAK; when associated with A-53 and A-58. No effect on MAPK1/3 (ERK1/2) phosphorylation in response to IL18, with or without IL12. Substantial reduction in MAPK1/3 (ERK1/2) phosphorylation in response to IL18, with or without IL12; when associated with A-53 and A-58.", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "26099046", "url": "https://glygen.org/publication/PubMed/26099046" }, { "database": "PubMed", "id": "16263722", "url": "https://glygen.org/publication/PubMed/16263722" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "iPTMnet", "id": "P59158", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59158" }, { "database": "PubMed", "id": "20091762", "url": "https://glygen.org/publication/PubMed/20091762" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Thr426", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->NFA).", "chr_id": "8", "chr_pos": "95067222", "evidence": [ { "id": "rs3399448042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399448042" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "701", "end_pos": "701", "site_lbl": "Arg701", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKR->NKS).", "chr_id": "8", "chr_pos": "95072981", "evidence": [ { "id": "rs3389002600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002600" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Arg156", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Knockin mice display typical Gitelman syndrome features, characterized by hypokalemia, hypomagnesemia and increased fractional excretion of K(+) and Mg(2+) with a normal blood pressure level; when associated with S-210.", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "36370249", "url": "https://glygen.org/publication/PubMed/36370249" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Gly210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Knockin mice display typical Gitelman syndrome features, characterized by hypokalemia, hypomagnesemia and increased fractional excretion of K(+) and Mg(2+) with a normal blood pressure level; when associated with Q-156.", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "36370249", "url": "https://glygen.org/publication/PubMed/36370249" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ala224", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Does not affect protein processing and glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "15068971", "url": "https://glygen.org/publication/PubMed/15068971" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Pro347", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Impairs protein processing and glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "P59158", "url": "https://www.uniprot.org/uniprotkb/P59158" }, { "database": "PubMed", "id": "15068971", "url": "https://glygen.org/publication/PubMed/15068971" } ] } ] }, { "uniprot_canonical_ac": "P59158-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ala586", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Does not affect protein processing and glycosylation. 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} ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "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": "Q8CHG7", 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{ "name": "positive regulation of microvillus assembly", "id": "GO:1903698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903698", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q8CHG7", "url": "https://www.uniprot.org/uniprotkb/Q8CHG7" } ], "pmid": "" }, { 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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:3119", "name": "gastrointestinal system cancer", "description": "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:3119", "evidence": [ { "id": "3119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3119" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. 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"Cornelia de Lange syndrome 2", "description": "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0080506", "evidence": [ { "id": "0080506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080506" } ], "weight": 0.0 }, { "disease_id": "DOID:11725", "name": "Cornelia de Lange syndrome", "description": "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.", "url": "https://disease-ontology.org/term/DOID:11725", "evidence": [ { "id": "11725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11725" } ], "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: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 } ], "cellular_component": [ { "name": "mitotic cohesin complex", "id": "GO:0030892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030892", "evidence": [ { "database": "UniProtKB", "id": "Q9CU62", "url": "https://www.uniprot.org/uniprotkb/Q9CU62" } ], "pmid": "" }, { "name": "meiotic cohesin complex", "id": "GO:0030893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030893", "evidence": [ { "database": "UniProtKB", "id": "Q9CU62", "url": "https://www.uniprot.org/uniprotkb/Q9CU62" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CU62", "url": "https://www.uniprot.org/uniprotkb/Q9CU62" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CU62", "url": "https://www.uniprot.org/uniprotkb/Q9CU62" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CU62", "url": "https://www.uniprot.org/uniprotkb/Q9CU62" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": 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"protein_name": "Sorting nexin-1", "disease": [], "cellular_component": [ { "name": "extrinsic component of postsynaptic endosome membrane", "id": "GO:0098999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098999", "evidence": [ { "database": "UniProtKB", "id": "Q9WV80", "url": "https://www.uniprot.org/uniprotkb/Q9WV80" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WV80", "url": "https://www.uniprot.org/uniprotkb/Q9WV80" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9WV80", "url": "https://www.uniprot.org/uniprotkb/Q9WV80" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9WV80", "url": 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"https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" }, { "name": "positive regulation of collagen metabolic process", "id": "GO:0010714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010714", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" }, { "name": "positive regulation of progesterone secretion", "id": "GO:2000872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000872", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q99P87", "url": "https://www.uniprot.org/uniprotkb/Q99P87" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "Q9ERI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 221, "chemical_mass": 25017.0, "gene_names": "Rab27a;2210402C08Rik;2410003M20Rik;4933437C11Rik;Rab27a;ash", "protein_name": "Ras-related protein Rab-27A", "disease": [ { "disease_id": "DOID:0050120", "name": "hemophagocytic lymphohistiocytosis", "description": "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.", "url": "https://disease-ontology.org/term/DOID:0050120", "evidence": [ { "id": "0050120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050120" } ], "weight": 0.0 }, { "disease_id": "DOID:0060539", "name": "Hermansky-Pudlak syndrome 1", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0060539", "evidence": [ { "id": "0060539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060539" } ], "weight": 0.0 }, { "disease_id": "DOID:0060833", "name": "Griscelli syndrome type 2", "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.", "url": "https://disease-ontology.org/term/DOID:0060833", "evidence": [ { "id": "0060833", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060833" } ], "weight": 0.0 }, { "disease_id": "DOID:2223", "name": "platelet storage pool deficiency", "description": "", "url": "https://disease-ontology.org/term/DOID:2223", "evidence": [ { "id": "2223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2223" } ], "weight": 0.0 }, { "disease_id": "DOID:4330", "name": "non-Langerhans-cell histiocytosis", "description": "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells.", "url": "https://disease-ontology.org/term/DOID:4330", "evidence": [ { "id": "4330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4330" } ], "weight": 0.0 } ], "biological_process": [ { "name": "multivesicular body sorting pathway", "id": "GO:0071985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071985", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "pigment granule localization", "id": "GO:0051875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051875", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "exosomal secretion", "id": "GO:1990182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990182", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "positive regulation of regulated secretory pathway", "id": "GO:1903307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903307", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "melanosome transport", "id": "GO:0032402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032402", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "melanosome localization", "id": "GO:0032400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032400", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "pigment granule transport", "id": "GO:0051904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051904", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "multivesicular body organization", "id": "GO:0036257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036257", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "cytotoxic T cell degranulation", "id": "GO:0043316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043316", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "complement-dependent cytotoxicity", "id": "GO:0097278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097278", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "positive regulation of constitutive secretory pathway", "id": "GO:1903435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903435", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "natural killer cell degranulation", "id": "GO:0043320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043320", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "myosin V binding", "id": "GO:0031489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031489", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "exocytic vesicle", "id": "GO:0070382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070382", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" }, { "name": "Weibel-Palade body", "id": "GO:0033093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033093", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ERI2-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" } ] } ] }, { "uniprot_canonical_ac": "Q9ERI2-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Gln78", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Loss of GTPase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9ERI2", "url": "https://www.uniprot.org/uniprotkb/Q9ERI2" }, { "database": "PubMed", "id": "18940603", "url": "https://glygen.org/publication/PubMed/18940603" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "Q8QZY4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8QZY4", "url": "https://www.uniprot.org/uniprotkb/Q8QZY4" } ], "common_name": 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regulation of ERBB3 signaling pathway", "id": "GO:1905580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905580", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "positive regulation of protein localization to endoplasmic reticulum", "id": "GO:1905552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905552", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "nuclear pore complex assembly", "id": "GO:0051292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051292", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "negative regulation of vasculogenesis", "id": "GO:2001213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001213", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "negative regulation of dendrite extension", "id": "GO:1903860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903860", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "positive regulation of mammary gland epithelial cell proliferation", "id": "GO:0033601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033601", "evidence": [ { 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"database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "intracellular sphingolipid homeostasis", "id": "GO:0090156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090156", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "regulation of branching morphogenesis of a nerve", "id": "GO:2000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000172", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "negative regulation of neuron projection regeneration", "id": "GO:0070571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070571", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "positive regulation of collateral sprouting of injured axon", "id": "GO:0048694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048694", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "negative regulation of formation of growth cone in injured axon", "id": "GO:1905943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905943", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "positive regulation of neutrophil migration", "id": "GO:1902624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902624", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "positive regulation of artery morphogenesis", "id": "GO:1905653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905653", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "cell adhesion involved in sprouting angiogenesis", "id": "GO:0120078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120078", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q99P72", "url": "https://www.uniprot.org/uniprotkb/Q99P72" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": 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"url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "POU domain binding", "id": "GO:0070974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070974", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "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": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "HMG box domain binding", "id": "GO:0071837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071837", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding", "id": "GO:0001162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001162", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "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": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "histone H3K56ac reader activity", "id": "GO:0140129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140129", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P20263-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Thr125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 125, "start_aa": "Thr", "end_pos": 125, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr125", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817370", "evidence": [ { "id": "rs3389458198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389458198" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Thr228", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 228, "start_aa": "Thr", "end_pos": 228, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr228", "evidence": [ { "id": "27311888", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27311888" }, { "id": "P20263", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20263" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22608532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22608532" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" }, { "id": "P20263", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P20263" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PRO", "id": "P20263", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P20263" }, { "database": "iPTMnet", "id": "P20263", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20263" }, { "database": "PubMed", "id": "23495099", "url": "https://glygen.org/publication/PubMed/23495099" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "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": 229, "start_aa": "Ser", "end_pos": 229, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser229", "evidence": [ { "id": "27311888", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27311888" }, { "id": "P20263", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20263" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "22608532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22608532" }, { "id": "40128797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40128797" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "iPTMnet", "id": "P20263", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20263" }, { "database": "PubMed", "id": "33451972", "url": "https://glygen.org/publication/PubMed/33451972" }, { "database": "PubMed", "id": "29153991", "url": "https://glygen.org/publication/PubMed/29153991" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Absence of phosphorylation. Reduced protein degradation. Reduced self-renewal ability in ES cells. No change in FBXW4 binding. Loss of FBXW8 binding.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "29153991", "url": "https://glygen.org/publication/PubMed/29153991" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Thr105", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817309", "evidence": [ { "id": "rs3553072893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553072893" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ala10", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35819961", "evidence": [ { "id": "rs3389466157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389466157" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Asn115", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817340", "evidence": [ { "id": "rs3389450201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450201" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817340", "evidence": [ { "id": "rs3389450201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450201" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Glu123", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817363", "evidence": [ { "id": "rs3389458243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389458243" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Pro124", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817367", "evidence": [ { "id": "rs3389418301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389418301" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Leu135", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35820018", "evidence": [ { "id": "rs3389460485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389460485" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Glu140", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35820033", "evidence": [ { "id": "rs3389470489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470489" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Gly165", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35820108", "evidence": [ { "id": "rs3389458223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389458223" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Lys199", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35820394", "evidence": [ { "id": "rs3407282013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407282013" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Gln211", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35820432", "evidence": [ { "id": "rs3389439904", "database": "dbSNP", 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No loss of self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "No change in DNA binding. Loss of self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Cys214", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35820882", "evidence": [ { "id": "rs3389408948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408948" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Arg227", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": 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"N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35821014", "evidence": [ { "id": "rs3553389304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553389304" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Gly261", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35821022", "evidence": [ { "id": "rs3407633742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407633742" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Lys279", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of 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"uniprot_canonical_ac": "P20263-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Gly78", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817228", "evidence": [ { "id": "rs3552969648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552969648" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Val85", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817249", "evidence": [ { "id": "rs3389460477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389460477" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Gln89", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "17", "chr_pos": "35817263", "evidence": [ { "id": "rs3389418305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389418305" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Lys118", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Absence of sumoylation. Enhanced protein degradation. Reduced self-renewal ability in ES cells. 70% lower expression of YES1. Reduced DNA binding. No change in nuclear location. No change in nuclear localization. Absence of sumoylation; when associated with R-215 and R-244.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "17097055", "url": "https://glygen.org/publication/PubMed/17097055" }, { "database": "PubMed", "id": "17525163", "url": "https://glygen.org/publication/PubMed/17525163" }, { "database": "PubMed", "id": "17496161", "url": "https://glygen.org/publication/PubMed/17496161" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Glu120", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Absence of sumoylation. Enhanced protein degradation. Reduced self-renewal ability in ES cells. 55% lower expression of YES1.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "17496161", "url": "https://glygen.org/publication/PubMed/17496161" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Val166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "K", "comment": "No change in DNA binding. No loss of self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No change in DNA binding. Reduced self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Asn207", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No change in DNA binding. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Glu208", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No change in DNA binding. No loss of self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asn209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No change in DNA binding. Reduced self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Leu210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No change in DNA binding. Loss of self-renewal ability in iPS cells. No change in nuclear location. No loss of ability to bind SOX2. Reduced levels of CHD4 and SMARCA4 in a POU5F1 pulldown assay.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Glu212", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No change in DNA binding. No loss of self-renewal ability in iPS cells. No change in nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "23376973", "url": "https://glygen.org/publication/PubMed/23376973" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Lys215", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation; when associated with R-244. Loss of sumoylation. No change in nuclear localization; when associated with R-118 and R-244.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "17496161", "url": "https://glygen.org/publication/PubMed/17496161" } ] } ] }, { "uniprot_canonical_ac": "P20263-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Lys244", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No change in sumoylation. No change in sumoylation; when associated with R-215. Loss of sumoylation; when associated with R-118 and R-215. No change in nuclear localization; when associated with R-118 and R-215.", "evidence": [ { "database": "UniProtKB", "id": "P20263", "url": "https://www.uniprot.org/uniprotkb/P20263" }, { "database": "PubMed", "id": "17496161", "url": "https://glygen.org/publication/PubMed/17496161" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "P24369-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 216, "chemical_mass": 23713.0, "gene_names": "Ppib;Cphn-2;Cphn2;CyP-20b;Ppib", "protein_name": "Peptidyl-prolyl cis-trans isomerase B", "disease": [ { "disease_id": "DOID:0110349", "name": "osteogenesis imperfecta type 9", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0110349", "evidence": [ { "id": "0110349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110349" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum chaperone complex", "id": "GO:0034663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034663", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" } ], "biological_process": [ { "name": "host-mediated activation of viral genome replication", "id": "GO:0044829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044829", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "host-mediated activation of viral process", "id": "GO:0044794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044794", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P24369", "url": "https://www.uniprot.org/uniprotkb/P24369" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": 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Abolishes L-glutamine transport activity; when associated with Q-257.", "evidence": [ { "database": "UniProtKB", "id": "Q8K2P7", "url": "https://www.uniprot.org/uniprotkb/Q8K2P7" }, { "database": "PubMed", "id": "27655909", "url": "https://glygen.org/publication/PubMed/27655909" } ] } ] }, { "uniprot_canonical_ac": "Q8K2P7-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Asn257", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 257, "start_aa": "Asn", "end_pos": 257, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn257", "evidence": [ { "id": "Q8K2P7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K2P7#ptm_processing" }, { "id": "27655909", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655909" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Affects N-glycosylation. Abolishes Nglycosylation; when associated with Q-251 and Q-310. Does not affect cell membrane localization. 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Does not affect cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8K2P7", "url": "https://www.uniprot.org/uniprotkb/Q8K2P7" }, { "database": "PubMed", "id": "27655909", "url": "https://glygen.org/publication/PubMed/27655909" } ] } ] }, { "uniprot_canonical_ac": "Q8K2P7-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asn310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Does not affect N-glycosylation. Abolishes Nglycosylation; when associated with Q-251 and Q-257. 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"name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q9D818", "url": "https://www.uniprot.org/uniprotkb/Q9D818" } ], "pmid": "" }, { "name": "establishment of mitotic spindle 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No effect on interactions with TLR4 and CSK.", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "28290451", "url": "https://glygen.org/publication/PubMed/28290451" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3UU41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UU41" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3UU41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UU41" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Tyr96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "iPTMnet", "id": "Q3UU41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UU41" }, { "database": "PubMed", "id": "28290451", "url": "https://glygen.org/publication/PubMed/28290451" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Inhibits interaction with TLR4. Decreases IL12B expression after TLR4 activation by lipopolysaccharide. Inhibits interaction with CSK. No effect on interactions with LYN, GRB2, and BLNK.", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "28290451", "url": "https://glygen.org/publication/PubMed/28290451" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Trp95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Inhibits interaction with TLR4. Inhibits IL12B expression after TLR4 activation by lipopolysaccharide. No effect on interaction with LYN.", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with TLR4.", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with TLR4.", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ] }, { "uniprot_canonical_ac": "Q3UU41-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Val99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on interaction with TLR4.", "evidence": [ { "database": "UniProtKB", "id": "Q3UU41", "url": "https://www.uniprot.org/uniprotkb/Q3UU41" }, { "database": "PubMed", "id": "28098138", "url": "https://glygen.org/publication/PubMed/28098138" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "P09671-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 24603.0, "gene_names": "Sod2;MnSOD;Sod-2;Sod2", "protein_name": "Superoxide dismutase [Mn], mitochondrial", "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:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.", "url": "https://disease-ontology.org/term/DOID:0060193", "evidence": [ { "id": "0060193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060193" } ], "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: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: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:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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: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: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:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "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: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:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "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: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:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "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: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: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: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:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:14503", "name": "neuronal ceroid lipofuscinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14503", "evidence": [ { "id": "14503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14503" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "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: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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:3613", "name": "Canavan disease", "description": "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:3613", "evidence": [ { "id": "3613", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3613" } ], "weight": 0.0 }, { "disease_id": "DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "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: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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "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:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID: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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "weight": 0.0 }, { "disease_id": "DOID:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "erythrophore differentiation", "id": "GO:0048773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048773", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to silicon dioxide", "id": "GO:0034021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034021", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "negative regulation of membrane hyperpolarization", "id": "GO:1902631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902631", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to superoxide", "id": "GO:0000303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000303", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide biosynthetic process", "id": "GO:0010729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010729", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "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": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to isolation stress", "id": "GO:0035900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035900", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "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": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "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": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": "https://www.uniprot.org/uniprotkb/P09671" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P09671", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060242", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "determination of left/right asymmetry in lateral mesoderm", "id": "GO:0003140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003140", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "cerebellar cortex 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"https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "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": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "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": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060644", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "regulation of stem cell population maintenance", "id": "GO:2000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000036", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "central nervous system neuron differentiation", "id": "GO:0021953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021953", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "ventral midline determination", "id": "GO:0007371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007371", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "negative regulation of hair follicle development", "id": "GO:0051799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051799", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "mesenchymal to epithelial transition involved in metanephric renal vesicle formation", "id": "GO:0072285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072285", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "regulation of heart morphogenesis", "id": "GO:2000826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000826", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": "https://www.uniprot.org/uniprotkb/P56726" } ], "pmid": "" }, { "name": "negative regulation of hepatocyte proliferation", "id": "GO:2000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000346", "evidence": [ { "database": "UniProtKB", "id": "P56726", "url": 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} ] }, { "uniprot_canonical_ac": "Q9CW03-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Glu208", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "19", "chr_pos": "53610237", "evidence": [ { "id": "rs3389540687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389540687" } ] } ] }, { "uniprot_canonical_ac": "Q9CW03-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ala211", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "19", "chr_pos": "53610246", "evidence": [ { "id": "rs3413077061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413077061" } ] } ] }, { "uniprot_canonical_ac": "Q9CW03-1", "start_pos": "230", "end_pos": "230", 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{ "uniprot_canonical_ac": "Q9CW03-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Pro589", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "19", "chr_pos": "53617769", "evidence": [ { "id": "rs3389556009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389556009" } ] } ] }, { "uniprot_canonical_ac": "Q9CW03-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Val595", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "19", "chr_pos": "53617787", "evidence": [ { "id": "rs3389502841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389502841" } ] } ] }, { "uniprot_canonical_ac": "Q9CW03-1", "start_pos": "68", "end_pos": "68", 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"name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 483, "chemical_mass": 54986.0, "gene_names": "Smarcd3;1500001J14Rik;2210409C08Rik;BAF60C;Baf60c;Smarcd3", "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1925", "name": "Coffin-Siris syndrome", "description": "An autosomal dominant intellectual developmental disorder that is 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"GO:0003219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003219", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" }, { "name": "regulation of 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"name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": "https://www.uniprot.org/uniprotkb/Q6P9Z1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P9Z1-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P9Z1", "url": 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binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "G3X939", "url": "https://www.uniprot.org/uniprotkb/G3X939" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "G3X939", "url": "https://www.uniprot.org/uniprotkb/G3X939" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G3X939", "url": "https://www.uniprot.org/uniprotkb/G3X939" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "G3X939", "url": "https://www.uniprot.org/uniprotkb/G3X939" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "positive regulation of fatty acid metabolic process", "id": "GO:0045923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045923", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "negative regulation of leukocyte cell-cell adhesion", "id": "GO:1903038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903038", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "cellular response to fructose stimulus", "id": "GO:0071332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071332", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "positive regulation of fatty acid oxidation", "id": "GO:0046321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046321", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "positive regulation of transformation of host cell by virus", "id": "GO:1904189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904189", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" } ], "molecular_function": [ { "name": "NFAT protein binding", "id": "GO:0051525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051525", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P23204", "url": "https://www.uniprot.org/uniprotkb/P23204" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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"Asn147", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66984334", "evidence": [ { "id": "rs3389357784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357784" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66984298", "evidence": [ { "id": "rs250430078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250430078" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Asn198", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": 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"chr_id": "15", "chr_pos": "66980068", "evidence": [ { "id": "rs3551788655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551788655" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Trp34", "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": "66985553", "evidence": [ { "id": "rs3389365885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389365885" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Lys37", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66985543", "evidence": [ { "id": "rs3389344711", "database": "dbSNP", 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"uniprot_canonical_ac": "P54751-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66985640", "evidence": [ { "id": "rs3389361446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361446" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Cys61", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66985471", "evidence": [ { "id": "rs3389379914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389379914" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Gln80", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66985415", "evidence": [ { "id": "rs3389379956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389379956" } ] } ] }, { "uniprot_canonical_ac": "P54751-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Trp98", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "66985359", "evidence": [ { "id": "rs3389366154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389366154" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "P58043-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 480, "chemical_mass": 54377.0, "gene_names": "Sesn2;HI95;SEST2;Ses2;Sesn2", "protein_name": "Sestrin-2", "disease": [], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "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": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "positive regulation of lipophagy", "id": "GO:1904504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904504", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "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": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "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": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "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": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "cellular oxidant detoxification", "id": "GO:0098869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098869", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "negative regulation of translation in response to endoplasmic reticulum stress", "id": "GO:1902010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902010", "evidence": [ { "database": "UniProtKB", "id": "P58043", "url": "https://www.uniprot.org/uniprotkb/P58043" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", 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"description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0017015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017015", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of striated muscle tissue development", "id": "GO:0016202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016202", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "cellular response to chemokine", "id": "GO:1990869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990869", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:0035791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035791", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "protein oxidation", "id": "GO:0018158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018158", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of megakaryocyte differentiation", "id": "GO:0045652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045652", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "elastic fiber assembly", "id": "GO:0048251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "connective tissue development", "id": "GO:0061448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061448", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "peptidyl-lysine oxidation", "id": "GO:0018057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018057", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "ascending aorta development", "id": "GO:0035905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035905", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "descending aorta development", "id": "GO:0035906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035906", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000586", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "protein-lysine 6-oxidase activity", "id": "GO:0004720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004720", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", 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aneurysm and dissection. Heterozygous mice display thicker arterial wall with discontinuous elastic lamellae.", "evidence": [ { "database": "UniProtKB", "id": "P28301", "url": "https://www.uniprot.org/uniprotkb/P28301" }, { "database": "PubMed", "id": "27432961", "url": "https://glygen.org/publication/PubMed/27432961" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "P10085-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10085", "url": "https://www.uniprot.org/uniprotkb/P10085" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 318, "chemical_mass": 34233.0, "gene_names": "Myod1;MYF3;MyoD;Myod-1;Myod1;Myod;bHLHc1", "protein_name": "Myoblast determination protein 1", "disease": [ { "disease_id": "DOID:0081349", "name": "congenital myopathy 17", "description": "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0081349", "evidence": [ { "id": "0081349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081349" } ], "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:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. 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The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:17", "name": "musculoskeletal system disease", "description": "A disease of anatomical entity that occurs in the muscular and/or skeletal system.", "url": "https://disease-ontology.org/term/DOID:17", "evidence": [ { "id": "17", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:17" } ], "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": 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"name": "paranodal junction", "id": "GO:0033010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033010", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "meiotic spindle", "id": "GO:0072687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072687", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "juxtaparanode region of axon", "id": "GO:0044224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044224", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "paranode region of axon", "id": "GO:0033270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033270", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "lateral loop", "id": "GO:0043219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043219", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070446", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "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": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of fatty acid biosynthetic process", "id": "GO:0045717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045717", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "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": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "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": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "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": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "positive regulation of fatty acid biosynthetic process", "id": "GO:0045723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045723", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "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": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "cellular response to epinephrine stimulus", "id": "GO:0071872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071872", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "rDNA heterochromatin formation", "id": "GO:0000183", 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deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "positive regulation of oocyte maturation", "id": "GO:1900195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900195", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte differentiation", "id": "GO:0048715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048715", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "positive regulation of attachment of spindle microtubules to kinetochore", "id": "GO:0051987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051987", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "peptidyl-lysine deacetylation", "id": "GO:0034983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034983", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "tubulin deacetylation", "id": "GO:0090042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090042", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "negative regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900226", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor internalization", "id": "GO:0099149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099149", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H4K16 deacetylase activity, NAD-dependent", "id": "GO:0046970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046970", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8VDQ8", "url": "https://www.uniprot.org/uniprotkb/Q8VDQ8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ 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"name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5363", "name": "myxoid liposarcoma", "description": "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.", "url": "https://disease-ontology.org/term/DOID:5363", "evidence": [ { "id": "5363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5363" } ], "weight": 0.0 }, { "disease_id": "DOID:5453", "name": "pulmonary venoocclusive disease", "description": "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.", "url": "https://disease-ontology.org/term/DOID:5453", "evidence": [ { "id": "5453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5453" } ], "weight": 0.0 }, { "disease_id": "DOID:9870", "name": "galactosemia", "description": "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.", "url": "https://disease-ontology.org/term/DOID:9870", "evidence": [ { "id": "9870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9870" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "CHOP-C/EBP complex", "id": "GO:0036488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036488", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "CHOP-ATF3 complex", "id": "GO:1990622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990622", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "CHOP-ATF4 complex", "id": "GO:1990617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990617", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "leucine zipper domain binding", "id": "GO:0043522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043522", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "cAMP response element binding protein binding", "id": "GO:0008140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008140", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "transcription regulator activator activity", "id": "GO:0140537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140537", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "blood vessel maturation", "id": "GO:0001955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001955", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902237", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "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": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "establishment of protein localization to mitochondrion", "id": "GO:0072655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072655", "evidence": [ { "database": "UniProtKB", "id": "P35639", "url": "https://www.uniprot.org/uniprotkb/P35639" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "miRNA processing", "id": "GO:0035196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035196", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:0010804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010804", "evidence": [ { 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"url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "negative regulation of Schwann cell proliferation", "id": "GO:0010626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010626", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "spermatogonial cell division", "id": "GO:0007284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007284", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of miRNA metabolic process", "id": "GO:2000628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000628", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "olfactory bulb interneuron differentiation", "id": "GO:0021889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021889", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell differentiation", "id": "GO:0014040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014040", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "peripheral nervous system myelin formation", "id": "GO:0032290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032290", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of oligodendrocyte differentiation", "id": "GO:0048713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048713", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "zygote asymmetric cell division", "id": "GO:0010070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010070", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "trophectodermal cell proliferation", "id": "GO:0001834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001834", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of viral genome replication", "id": "GO:0045069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045069", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of odontogenesis of dentin-containing tooth", "id": "GO:0042487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042487", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "positive regulation of miRNA metabolic process", "id": "GO:2000630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000630", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of muscle cell apoptotic process", "id": "GO:0010660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010660", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "hair follicle cell proliferation", "id": "GO:0071335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071335", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "meiotic spindle organization", "id": "GO:0000212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000212", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of regulatory T cell differentiation", "id": "GO:0045589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045589", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "positive regulation of myelination", "id": "GO:0031643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031643", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048730", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of stem cell differentiation", "id": "GO:2000736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000736", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "ganglion development", "id": "GO:0061548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061548", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "cardiac neural crest cell development involved in outflow tract morphogenesis", "id": "GO:0061309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061309", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell proliferation", "id": "GO:1904899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904899", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell-matrix adhesion via fibronectin", "id": "GO:1904906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904906", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "global gene silencing by mRNA cleavage", "id": "GO:0098795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098795", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "RISC complex", "id": "GO:0016442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016442", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "RISC-loading complex", "id": "GO:0070578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070578", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8R418", "url": "https://www.uniprot.org/uniprotkb/Q8R418" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": 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concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "Q6Q477", "url": "https://www.uniprot.org/uniprotkb/Q6Q477" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071878", "evidence": [ { "database": "UniProtKB", "id": "Q6Q477", "url": "https://www.uniprot.org/uniprotkb/Q6Q477" } ], "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": "Q6Q477", "url": "https://www.uniprot.org/uniprotkb/Q6Q477" } ], "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": 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], "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": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "unmethylated CpG binding", "id": "GO:0045322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045322", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "DNA (cytosine-5-)-methyltransferase activity, acting on CpN substrates", "id": "GO:0051719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051719", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "protein-cysteine methyltransferase activity", "id": "GO:0106363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106363", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" } ], "biological_process": [ { "name": "epigenetic programming of gene expression", "id": "GO:0043045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043045", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "positive regulation of cellular response to hypoxia", "id": "GO:1900039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900039", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "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": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "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": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "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": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "genomic imprinting", "id": "GO:0071514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071514", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "cellular response to bisphenol A", "id": "GO:1903926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903926", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "DNA methylation-dependent constitutive heterochromatin formation", "id": "GO:0006346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006346", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated heterochromatin formation", "id": "GO:0031048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031048", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "negative regulation of 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], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" } ], "pmid": "" }, { "name": "nuclear matrix", "id": 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No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Cys706", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces activity about 5-fold. Reduces DNA-binding capacity. 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Reduces DNA-binding capacity.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Lys717", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Reduces activity about 3-fold.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Phe728", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of activity due to the incapacity to bind the regulatory subunit DNMT3L.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "17713477", "url": "https://glygen.org/publication/PubMed/17713477" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "752", "end_pos": "752", "site_lbl": "Glu752", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces activity about 10-fold.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Asn753", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduces activity about 10-fold.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "788", "end_pos": "788", "site_lbl": "Arg788", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces activity about 15-fold.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Arg827", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces activity about 2-fold. Reduces DNA-binding capacity.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Arg832", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces DNA-binding capacity. No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "O88508", "url": "https://www.uniprot.org/uniprotkb/O88508" }, { "database": "PubMed", "id": "16472822", "url": "https://glygen.org/publication/PubMed/16472822" } ] } ] }, { "uniprot_canonical_ac": "O88508-1", "start_pos": "878", "end_pos": "878", "site_lbl": "Arg878", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces activity about 6-fold. 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"name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "peptidyl-serine dephosphorylation", "id": "GO:0070262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070262", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "negative regulation of DNA biosynthetic process", "id": "GO:2000279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000279", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "negative regulation of meiotic cell cycle", "id": "GO:0051447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051447", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090266", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { "name": "negative regulation of p38MAPK cascade", "id": "GO:1903753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903753", "evidence": [ { "database": "UniProtKB", "id": "P28563", "url": "https://www.uniprot.org/uniprotkb/P28563" } ], "pmid": "" }, { 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"weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72905073", "evidence": [ { "id": "rs3410565828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410565828" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Thr465", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72905061", "evidence": [ { "id": "rs3389576546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389576546" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Val46", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline 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"chr_id": "X", "chr_pos": "72904959", "evidence": [ { "id": "rs29037518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29037518" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Leu511", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904923", "evidence": [ { "id": "rs3389531291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389531291" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Gln512", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904921", "evidence": [ { "id": "rs3410790621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410790621" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Thr517", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904805", "evidence": [ { "id": "rs3389543275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543275" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Thr520", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904795", "evidence": [ { "id": "rs3389567490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389567490" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Gln521", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904793", "evidence": [ { "id": "rs3409321963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409321963" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Thr537", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904744", "evidence": [ { "id": "rs3409870051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409870051" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Leu55", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904364", "evidence": [ { "id": "rs3389543295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543295" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Lys567", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904654", "evidence": [ { "id": "rs3409321965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409321965" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Phe569", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": 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"id": "rs3411042729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411042729" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Leu596", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904364", "evidence": [ { "id": "rs3389543295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543295" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Leu606", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904334", "evidence": [ { "id": "rs3389472676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389472676" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Lys626", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904105", "evidence": [ { "id": "rs3411300621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411300621" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Trp634", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72904079", "evidence": [ { "id": "rs3389565033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389565033" } ] } ] }, { 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"Tyr684", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903708_72903709insCCCCCTATGTCCACTACACCTTTCGG", "evidence": [ { "id": "rs3410670304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410670304" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Thr685", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903705", "evidence": [ { "id": "rs3409322024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409322024" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Phe686", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903701", "evidence": [ { "id": "rs3410677304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410677304" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Glu704", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903648", "evidence": [ { "id": "rs3389567456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389567456" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Pro709", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903633", "evidence": [ { "id": "rs3389574827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389574827" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Pro713", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903376", "evidence": [ { "id": "rs3389574861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389574861" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "759", "end_pos": "759", "site_lbl": "Gln759", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72903060", "evidence": [ { "id": "rs3389565047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389565047" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Lys786", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72902981", "evidence": [ { "id": "rs3389564154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389564154" } ] } ] }, { "uniprot_canonical_ac": "P11627-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Thr802", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "X", "chr_pos": "72902932", "evidence": [ { "id": "rs250666338", "database": "dbSNP", 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pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4762", "name": "vasculogenic impotence", "description": "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue.", "url": "https://disease-ontology.org/term/DOID:4762", "evidence": [ { "id": "4762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4762" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of T cell tolerance induction", "id": "GO:0002666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002666", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "lens fiber cell apoptotic process", "id": "GO:1990086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990086", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "trachea morphogenesis", "id": "GO:0060439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060439", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "mammary gland morphogenesis", "id": "GO:0060443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060443", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "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": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "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": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "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": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "endocardial cushion fusion", "id": "GO:0003274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003274", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:1905007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905007", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "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": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "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": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell proliferation", "id": "GO:0060044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060044", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte growth", "id": "GO:0003430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003430", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "miRNA transport", "id": "GO:1990428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990428", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "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": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "membranous septum morphogenesis", "id": "GO:0003149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003149", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "tricuspid valve morphogenesis", "id": "GO:0003186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003186", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, alpha-beta T cell proliferation", "id": "GO:2000563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000563", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of tolerance induction to self antigen", "id": "GO:0002651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002651", "evidence": [ { "database": "UniProtKB", "id": "Q62312", "url": "https://www.uniprot.org/uniprotkb/Q62312" } ], "pmid": "" }, { "name": "positive regulation of B cell tolerance induction", "id": "GO:0002663", "url": 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receptor.", "chr_id": "4", "chr_pos": "43450077", "evidence": [ { "id": "rs253813064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253813064" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43450077", "evidence": [ { "id": "rs253813064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253813064" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Glu279", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43450072", "evidence": [ { "id": "rs236438966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236438966" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Arg292", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43449492", "evidence": [ { "id": "rs3388658875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658875" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43449488", "evidence": [ { "id": "rs27849846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27849846" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Cys29", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43454347", "evidence": [ { "id": "rs1132397533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132397533" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Met300", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43449467", "evidence": [ { "id": "rs1132442843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132442843" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Lys302", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43449461", "evidence": [ { "id": "rs3388658836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658836" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Gln306", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448412", "evidence": [ { "id": "rs256496489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256496489" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ser308", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448407", "evidence": [ { "id": "rs238433553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238433553" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Asp309", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448405", "evidence": [ { "id": "rs585908578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585908578" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Arg313", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448393", "evidence": [ { "id": "rs581936889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581936889" } ] }, { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448392", "evidence": [ { "id": "rs223034435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223034435" } ] }, { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448392", "evidence": [ { "id": "rs223034435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223034435" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "314", "end_pos": "314", "site_lbl": "His314", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448390", "evidence": [ { "id": "rs51397461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51397461" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Cys315", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448386", "evidence": [ { "id": "rs3388681621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681621" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Val316", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448383", "evidence": [ { "id": "rs49668817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49668817" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Arg317", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448380", "evidence": [ { "id": "rs225540466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225540466" } ] }, { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448380", "evidence": [ { "id": "rs225540466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225540466" } ] }, { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448380", "evidence": [ { "id": "rs225540466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225540466" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Lys319", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448375", "evidence": [ { "id": "rs582670799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582670799" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Thr320", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448371", "evidence": [ { "id": "rs257243562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257243562" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448371", "evidence": [ { "id": "rs257243562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257243562" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Tyr321", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448366_43448367", "evidence": [ { "id": "rs245189434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245189434" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Tyr322", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448366", "evidence": [ { "id": "rs232325959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232325959" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Gln323", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448363", "evidence": [ { "id": "rs218014840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218014840" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Lys324", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448339", "evidence": [ { "id": "rs213367371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213367371" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Glu326", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448353", "evidence": [ { "id": "rs234449210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234449210" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448354", "evidence": [ { "id": "rs248956791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248956791" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Thr328", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448347", "evidence": [ { "id": "rs219084294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219084294" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ile329", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448345", "evidence": [ { "id": "rs232088737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232088737" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Tyr32", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43454336_43454337insCAG", "evidence": [ { "id": "rs3394222496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394222496" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Lys331", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448339", "evidence": [ { "id": "rs213367371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213367371" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Cys340", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448311", "evidence": [ { "id": "rs3388674581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388674581" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448305", "evidence": [ { "id": "rs242797566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242797566" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Asn352", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43448276", "evidence": [ { "id": "rs223164781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223164781" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Val42", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43454308", "evidence": [ { "id": "rs3388678328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678328" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Asn78", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43453669", "evidence": [ { "id": "rs27849787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27849787" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Ala81", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "4", "chr_pos": "43453662", "evidence": [ { "id": "rs234347518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234347518" } ] } ] }, { "uniprot_canonical_ac": "P21855-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Tyr95", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk 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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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "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", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "negative regulation of double-strand break repair via homologous recombination", "id": "GO:2000042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000042", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "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": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomerase", "id": "GO:0032212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032212", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "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": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "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": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "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": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043517", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to nitrosative stress", "id": "GO:0071500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071500", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "DNA double-strand break processing", "id": "GO:0000729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000729", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "pre-B cell allelic exclusion", "id": "GO:0002331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002331", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "female gamete generation", "id": "GO:0007292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007292", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "regulation of telomere maintenance via telomerase", "id": "GO:0032210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032210", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "V(D)J recombination", "id": "GO:0033151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033151", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "peptidyl-serine autophosphorylation", "id": "GO:0036289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036289", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "meiotic telomere clustering", "id": "GO:0045141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045141", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "histone mRNA catabolic process", "id": "GO:0071044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071044", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cellular response to X-ray", "id": "GO:0071481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071481", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "replicative senescence", "id": "GO:0090399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090399", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "establishment of RNA localization to telomere", "id": "GO:0097694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097694", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "establishment of protein-containing complex localization to telomere", "id": "GO:0097695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097695", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of DNA catabolic process", "id": "GO:1903626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903626", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "regulation of microglial cell activation", "id": "GO:1903978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903978", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "negative regulation of telomere capping", "id": "GO:1904354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904354", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomere lengthening", "id": "GO:1904358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904358", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of telomerase catalytic core complex assembly", "id": "GO:1904884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904884", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of autophagosome assembly", "id": "GO:2000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000786", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "chromosome organization involved in meiotic cell cycle", "id": "GO:0070192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070192", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "negative regulation of signal transduction by p53 class mediator", "id": "GO:1901797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901797", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "DNA strand resection involved in replication fork processing", "id": "GO:0110025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110025", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "pexophagy", "id": "GO:0000425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000425", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" } ], "cellular_component": [ { "name": "extrinsic component of synaptic vesicle membrane", "id": "GO:0098850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098850", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q62388", "url": "https://www.uniprot.org/uniprotkb/Q62388" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { 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regulation of sister chromatid cohesion", "id": "GO:0045876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045876", "evidence": [ { "database": "UniProtKB", "id": "Q6AXC6", "url": "https://www.uniprot.org/uniprotkb/Q6AXC6" } ], "pmid": "" }, { "name": "positive regulation of transcription of nucleolar large rRNA by RNA polymerase I", "id": "GO:1901838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901838", "evidence": [ { "database": "UniProtKB", "id": "Q6AXC6", "url": "https://www.uniprot.org/uniprotkb/Q6AXC6" } ], "pmid": "" }, { "name": "cellular response to bleomycin", "id": "GO:1904976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904976", "evidence": [ { "database": "UniProtKB", "id": "Q6AXC6", "url": "https://www.uniprot.org/uniprotkb/Q6AXC6" } ], "pmid": "" }, { "name": "nucleolar chromatin organization", "id": "GO:1990700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990700", "evidence": [ { "database": "UniProtKB", "id": "Q6AXC6", "url": 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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: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 } 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{ "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "P28700", "url": "https://www.uniprot.org/uniprotkb/P28700" } ], "pmid": "" }, { "name": "regulation of branching 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"P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "negative regulation of mature B cell apoptotic process", "id": "GO:0002906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002906", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": 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"cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "positive regulation of monocyte aggregation", "id": "GO:1900625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900625", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "regulation of lamellipodium morphogenesis", "id": "GO:2000392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000392", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "negative regulation of regulatory T cell differentiation", "id": "GO:0045590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045590", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:1902166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902166", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "hyaluronan catabolic process", "id": "GO:0030214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030214", "evidence": [ { "database": "UniProtKB", "id": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "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": "P15379", "url": "https://www.uniprot.org/uniprotkb/P15379" } ], "pmid": "" }, { "name": "monocyte aggregation", "id": "GO:0070487", "url": 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"name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cell-substrate junction", "id": "GO:0030055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030055", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "neuron projection terminus", "id": "GO:0044306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044306", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "matrix side of mitochondrial inner membrane", "id": "GO:0099617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099617", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "postsynaptic specialization", "id": "GO:0099572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099572", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "myotube cell development", "id": "GO:0014904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014904", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "olfactory nerve structural organization", "id": "GO:0021629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021629", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "reactive oxygen species biosynthetic process", "id": "GO:1903409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903409", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "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": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "response to denervation involved in regulation of muscle adaptation", "id": "GO:0014894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014894", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0010880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010880", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P11531", "url": "https://www.uniprot.org/uniprotkb/P11531" } ], "pmid": "" }, { "name": "response to xenobiotic 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}, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O55070", "url": "https://www.uniprot.org/uniprotkb/O55070" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O55070", "url": "https://www.uniprot.org/uniprotkb/O55070" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "P70396-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70396", "url": "https://www.uniprot.org/uniprotkb/P70396" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 289, "chemical_mass": 31396.0, "gene_names": "Dlx5;Dlx5", "protein_name": "Homeobox protein DLX-5", "disease": [ { "disease_id": 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proliferation", "id": "GO:0048660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048660", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "positive regulation of immune system process", "id": "GO:0002684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002684", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "protein 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recombination", "id": "GO:0033151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033151", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "B cell lineage commitment", "id": "GO:0002326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002326", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "T cell receptor V(D)J recombination", "id": "GO:0033153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033153", "evidence": [ { "database": "UniProtKB", "id": "P97313", "url": "https://www.uniprot.org/uniprotkb/P97313" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint 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"evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "phagosome-lysosome fusion", "id": "GO:0090385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090385", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": "https://www.uniprot.org/uniprotkb/Q8BHD0" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q8BHD0", "url": 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"database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "positive regulation of cholesterol biosynthetic process", "id": "GO:0045542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045542", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of macrophage differentiation", "id": "GO:0045650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045650", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "muscle cell differentiation", "id": "GO:0042692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042692", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "axon ensheathment", "id": "GO:0008366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008366", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "regulation of mRNA splicing, via spliceosome", "id": "GO:0048024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048024", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "long-chain fatty acid biosynthetic process", "id": "GO:0042759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042759", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "regulation of astrocyte differentiation", "id": "GO:0048710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048710", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "positive regulation of myelination", "id": "GO:0031643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031643", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of type I interferon production", "id": "GO:0032480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032480", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "positive regulation of 3'-UTR-mediated mRNA stabilization", "id": "GO:1905870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905870", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "microglia differentiation", "id": "GO:0014004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014004", "evidence": [ { "database": "UniProtKB", "id": "Q9QYS9", "url": "https://www.uniprot.org/uniprotkb/Q9QYS9" } ], "pmid": "" }, { "name": "negative regulation of miRNA 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "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: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: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. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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", "name": 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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:0080797", "name": "nasal type extranodal NK/T-cell lymphoma", "description": "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.", "url": "https://disease-ontology.org/term/DOID:0080797", "evidence": [ { "id": "0080797", "database": "AGR", "url": 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"https://disease-ontology.org/term/DOID:1040", "evidence": [ { "id": "1040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "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:1996", "name": "rectum adenocarcinoma", "description": "A rectum cancer that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:1996", "evidence": [ { "id": "1996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1996" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "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:3049", "name": "Churg-Strauss syndrome", "description": "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.", "url": "https://disease-ontology.org/term/DOID:3049", "evidence": [ { "id": "3049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3049" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3261", "name": "autosomal dominant hyper-IgE syndrome 1 with recurrent infections", "description": "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:3261", "evidence": [ { "id": "3261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3261" } ], "weight": 0.0 }, { "disease_id": "DOID:3314", "name": "angiomyolipoma", "description": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.", "url": "https://disease-ontology.org/term/DOID:3314", "evidence": [ { "id": "3314", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3314" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9997", "name": "peripartum cardiomyopathy", "description": "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.", "url": "https://disease-ontology.org/term/DOID:9997", "evidence": [ { "id": "9997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9997" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ciliary neurotrophic factor-mediated signaling pathway", "id": "GO:0070120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070120", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "interleukin-2-mediated signaling pathway", "id": "GO:0038110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038110", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of hydrogen peroxide biosynthetic process", "id": "GO:0010730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010730", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of primary miRNA processing", "id": "GO:2000635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000635", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "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": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "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": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "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": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "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": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": 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"P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { 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"name": "plasma cell differentiation", "id": "GO:0002317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002317", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "radial glial cell differentiation", "id": "GO:0060019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060019", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "interleukin-11-mediated signaling pathway", "id": "GO:0038154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038154", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix disassembly", "id": "GO:0090091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090091", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "eye photoreceptor cell differentiation", "id": "GO:0001754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001754", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "positive regulation of growth factor dependent skeletal muscle satellite cell proliferation", "id": "GO:1902728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902728", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway via JAK-STAT", "id": "GO:0060397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060397", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "interleukin-15-mediated signaling pathway", "id": "GO:0035723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035723", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "interleukin-9-mediated signaling pathway", "id": "GO:0038113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038113", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "interleukin-23-mediated signaling pathway", "id": "GO:0038155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038155", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "cellular response to interleukin-17", "id": "GO:0097398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097398", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": "leptin-mediated signaling pathway", "id": "GO:0033210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033210", "evidence": [ { "database": "UniProtKB", "id": "P42227", "url": "https://www.uniprot.org/uniprotkb/P42227" } ], "pmid": "" }, { "name": 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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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. 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"https://www.alliancegenome.org/disease/DOID:3910" } ], "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:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "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: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:571", "name": "median neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:571", "evidence": [ { "id": "571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:571" } ], "weight": 0.0 }, { "disease_id": "DOID:62", "name": "aortic valve disease", "description": "A heart valve disease that is located_in the aortic valve.", "url": "https://disease-ontology.org/term/DOID:62", "evidence": [ { "id": "62", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:62" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": 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"cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle lumen", "id": "GO:0097489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097489", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein localization to early endosome", "id": "GO:1902966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902966", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "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": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q01279", "url": "https://www.uniprot.org/uniprotkb/Q01279" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", 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"site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35137-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ser188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35137", "url": "https://www.uniprot.org/uniprotkb/O35137" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "Q8BH66-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BH66", "url": "https://www.uniprot.org/uniprotkb/Q8BH66" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus 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Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "weight": 0.0 }, { "disease_id": "DOID:1929", "name": "supravalvular aortic stenosis", "description": "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.", "url": "https://disease-ontology.org/term/DOID:1929", "evidence": [ { "id": "1929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1929" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "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:3144", "name": "cutis laxa", "description": "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.", "url": "https://disease-ontology.org/term/DOID:3144", "evidence": [ { "id": "3144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3144" } ], "weight": 0.0 }, { "disease_id": "DOID:3159", "name": "photosensitivity disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3159", "evidence": [ { "id": "3159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3159" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "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: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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "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:62", "name": "aortic valve disease", "description": "A heart valve disease that is located_in the aortic valve.", "url": "https://disease-ontology.org/term/DOID:62", "evidence": [ { "id": "62", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:62" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:8505", "name": "dermatitis herpetiformis", "description": "", "url": "https://disease-ontology.org/term/DOID:8505", 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"site_lbl": "Asn246", "evidence": [ { "id": "Q80ZE3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80ZE3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Asn458", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLHCNCSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 458, "start_aa": "Asn", "end_pos": 458, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn458", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Tyr659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80ZE3", "url": "https://www.uniprot.org/uniprotkb/Q80ZE3" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreases interaction with RIGI; when associated with F-590,F-635 and F-682.", "evidence": [ { "database": "UniProtKB", "id": "Q80ZE3", "url": "https://www.uniprot.org/uniprotkb/Q80ZE3" }, { "database": "PubMed", "id": "23374343", "url": "https://glygen.org/publication/PubMed/23374343" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Lys570", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KGT->NGT); glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43062060", "evidence": [ { "id": "rs3388883857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883857" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Asn116", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058461", "evidence": [ { "id": "rs32044161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32044161" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Arg135", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058519", "evidence": [ { "id": "rs3388903878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903878" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Pro15", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058157", "evidence": [ { "id": "rs244555247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244555247" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Phe165", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058743", "evidence": [ { "id": "rs3388862860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862860" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Phe177", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058777", "evidence": [ { "id": "rs3388905630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388905630" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Pro191", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058820", "evidence": [ { "id": "rs3388886750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886750" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "207", "end_pos": "207", "site_lbl": "His207", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058868", "evidence": [ { "id": "rs3388904322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388904322" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Gln215", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43058891", "evidence": [ { "id": "rs3388878499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388878499" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Arg268", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43060424", "evidence": [ { "id": "rs250877714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250877714" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Gln276", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43060449", "evidence": [ { "id": "rs3388894094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388894094" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Gln288", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43060484", "evidence": [ { "id": "rs32394168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32394168" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Asp312", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43060555", "evidence": [ { "id": "rs3388906408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906408" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Gln327", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43060602", "evidence": [ { "id": "rs3388878549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388878549" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Asn384", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061079", "evidence": [ { "id": "rs3545669130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545669130" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Glu417", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061179", "evidence": [ { "id": "rs38978703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38978703" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Phe418", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061180", "evidence": [ { "id": "rs1132716744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132716744" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Trp450", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061347", "evidence": [ { "id": "rs3388862828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862828" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "453", "end_pos": "453", 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51238667" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Leu477", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061427", "evidence": [ { "id": "rs47284799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47284799" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ala485", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061452", "evidence": [ { "id": "rs46359058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46359058" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061474", "evidence": [ { "id": "rs3388897820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388897820" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061475", "evidence": [ { "id": "rs3388906466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906466" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Trp513", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061535", "evidence": [ { "id": "rs3388901022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901022" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Leu514", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43061538", "evidence": [ { "id": "rs3388904333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388904333" } ] } ] }, { "uniprot_canonical_ac": "Q80ZE3-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Thr527", "weight": 0.0, "snv": [ { "sequence_org": "T", 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"evidence": [ { "database": "UniProtKB", "id": "Q91YT7", "url": "https://www.uniprot.org/uniprotkb/Q91YT7" } ] } ] }, { "uniprot_canonical_ac": "Q91YT7-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YT7", "url": "https://www.uniprot.org/uniprotkb/Q91YT7" } ] } ] }, { "uniprot_canonical_ac": "Q91YT7-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YT7", "url": "https://www.uniprot.org/uniprotkb/Q91YT7" } ] } ] }, { "uniprot_canonical_ac": "Q91YT7-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YT7", "url": "https://www.uniprot.org/uniprotkb/Q91YT7" } ] } ] }, { "uniprot_canonical_ac": "Q91YT7-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ile185", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "4", "chr_pos": "131932605", "evidence": [ { "id": "rs3542866207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542866207" } ] } ] }, { "uniprot_canonical_ac": "Q91YT7-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ala47", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "4", "chr_pos": "131933020", "evidence": [ { "id": "rs3388723359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723359" } ] } ] } ], "record_id": "batch.mouse.6" }, { "uniprot_canonical_ac": "E9PYI1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 671, "chemical_mass": 77116.0, "gene_names": "Zfp568;Znf568;Gm1691;Zfp568;Znf568;chato", "protein_name": "Zinc finger protein 568", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" }, { "name": "DNA-templated 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"name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "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": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "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": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Leu154", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "No effect on transcriptional repression. Abolishes interaction with TRIM28; when associated with P-64.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Asp155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Increases transcriptional repression. No effect on interaction with THRIM28.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Lys37", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "No effect on transcriptional repression.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Gln45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "No effect on transcriptional repression.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Gln55", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Decreases transcriptional repression.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asp61", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreases transcriptional repression.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Leu64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "In chato; probable null mutation. Almost abolishes transcriptional repression. No effect on interaction with THRIM28. Embryonic development arrests at stage 9 dpc. Widespread morphogenetic defects are found in all germ layers, associated with defective convergent extension movements. The anterior-posterior axis is abnormally shortened, somites are mediolaterally expanded, and the neural tube fails to close normally. Morphogenesis of most mesodermal tissues is also defective. The definitive endoderm fails to narrow and elongate leading to an open gut tube. Extraembryonic tissues are also abnormal with bubble-like protrusions in the yolk sac, aberrant migration of extraembryonic mesoderm, and incomplete placental development. Abolishes interaction with TRIM28; when associated with P-154.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "21094155", "url": "https://glygen.org/publication/PubMed/21094155" }, { "database": "PubMed", "id": "18701545", "url": "https://glygen.org/publication/PubMed/18701545" }, { "database": "PubMed", "id": "22110054", "url": "https://glygen.org/publication/PubMed/22110054" }, { "database": "PubMed", "id": "27658112", "url": "https://glygen.org/publication/PubMed/27658112" } ] } ] }, { "uniprot_canonical_ac": "E9PYI1-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Glu65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Decreases transcriptional repression.", "evidence": [ { "database": "UniProtKB", "id": "E9PYI1", "url": "https://www.uniprot.org/uniprotkb/E9PYI1" }, { "database": "PubMed", "id": "27658112", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" }, { "name": "protein sumoylation", "id": "GO:0016925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016925", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" }, { "name": "negative regulation of transcription initiation by RNA polymerase II", "id": "GO:0060633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060633", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C0P7-1", "start_pos": "819", "end_pos": "819", "site_lbl": "Thr819", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 819, "start_aa": "Thr", "end_pos": 819, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr819", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C0P7-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0P7", "url": "https://www.uniprot.org/uniprotkb/Q8C0P7" } ] } ] }, { "uniprot_canonical_ac": "Q8C0P7-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Ser429", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { 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"end_pos": 588, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn588", "evidence": [ { "id": "P58735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58735#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Thr13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58735", "url": "https://www.uniprot.org/uniprotkb/P58735" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821851", "evidence": [ { "id": "rs254003750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254003750" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Ser587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58735", "url": "https://www.uniprot.org/uniprotkb/P58735" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P58735", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P58735" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ser590", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58735", "url": "https://www.uniprot.org/uniprotkb/P58735" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Val121", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821527", "evidence": [ { "id": "rs3388772977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772977" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Val137", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821527", "evidence": [ { "id": "rs3388772977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772977" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Pro148", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821445", "evidence": [ { "id": "rs231382184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231382184" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Lys156", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821421", "evidence": [ { "id": "rs236857701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236857701" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Asn157", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821417", "evidence": [ { "id": "rs219311730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219311730" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asp175", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821363", "evidence": [ { "id": "rs3388780381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388780381" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Gln20", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821830", "evidence": [ { "id": "rs3388766292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388766292" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Val250", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820450", "evidence": [ { "id": "rs3388771218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771218" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Leu258", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820426", "evidence": [ { "id": "rs3388763584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763584" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820384", "evidence": [ { "id": "rs3388778323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778323" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Leu274", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820426", "evidence": [ { "id": "rs3388763584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763584" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Pro296", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820311", "evidence": [ { "id": "rs3388771733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771733" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Asp321", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820236", "evidence": [ { "id": "rs245990685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245990685" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Arg323", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820230", "evidence": [ { "id": "rs217355424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217355424" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Asp339", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820183", "evidence": [ { "id": "rs3388778078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778078" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ala365", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820104", "evidence": [ { "id": "rs3388775701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775701" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ala384", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108820047", "evidence": [ { "id": "rs3388771778", "database": "dbSNP", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769376" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Cys45", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821754", "evidence": [ { "id": "rs3388777267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388777267" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Gln47", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821748", "evidence": [ { "id": "rs3388775292", "database": "dbSNP", "url": 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"rs3388778087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778087" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819666", "evidence": [ { "id": "rs3388758580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758580" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Phe545", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819565", "evidence": [ { "id": "rs3388777839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388777839" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Pro550", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819549", "evidence": [ { "id": "rs3388778075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778075" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Phe559", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819523", "evidence": [ { "id": "rs3388763593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763593" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Ala571", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819487", "evidence": [ { "id": "rs3388758527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758527" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Val592", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819423", "evidence": [ { "id": "rs232900449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232900449" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "595", "end_pos": "595", "site_lbl": 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"sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108819210", "evidence": [ { "id": "rs220015354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220015354" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Glu6", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108822419", "evidence": [ { "id": "rs3388778088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778088" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "108821619", "evidence": [ { "id": "rs3388780458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388780458" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Thr190", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Decreased sulfate-hydrogencarbonate exchange activity. Loss of localization to plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "P58735", "url": "https://www.uniprot.org/uniprotkb/P58735" }, { "database": "PubMed", "id": "27210743", "url": "https://glygen.org/publication/PubMed/27210743" } ] } ] }, { "uniprot_canonical_ac": "P58735-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Decreased sulfate-hydrogencarbonate exchange activity. 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modification of synaptic structure", "id": "GO:1905244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905244", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "intracellular water homeostasis", "id": "GO:0009992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009992", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "protein localization 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of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of autophagosome size", "id": "GO:0016243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016243", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "lysosomal lumen acidification", "id": "GO:0007042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007042", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "lysosomal protein catabolic process", "id": "GO:1905146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905146", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "lysosomal lumen pH elevation", "id": "GO:0035752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035752", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "phagosome-lysosome fusion", "id": "GO:0090385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090385", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of phagosome maturation", "id": "GO:1905162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905162", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "L-arginine transmembrane transport", "id": "GO:1903826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903826", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of protein processing", "id": "GO:0070613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070613", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "renal potassium excretion", "id": "GO:0036359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036359", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of autophagosome maturation", "id": "GO:1901096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901096", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "plasma membrane raft organization", "id": "GO:0044857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044857", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "phagosome-lysosome docking", "id": "GO:0090384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090384", "evidence": [ { "database": "UniProtKB", "id": "Q61124", "url": "https://www.uniprot.org/uniprotkb/Q61124" } ], "pmid": "" }, { "name": "regulation of cellular 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cavity adenocarcinoma", "description": "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4930", "evidence": [ { "id": "4930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4930" } ], "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" } 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EDS has five cardinal signs, which may be present to some degree in all of the subtypes. 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 } ], "biological_process": [ { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "protein heterotrimerization", "id": "GO:0070208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070208", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "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": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q01149", "url": "https://www.uniprot.org/uniprotkb/Q01149" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": 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